Incidental Mutation 'R1912:Ltbp2'
| ID |
210433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp2
|
| Ensembl Gene |
ENSMUSG00000002020 |
| Gene Name |
latent transforming growth factor beta binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
039930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.794)
|
| Stock # |
R1912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84829986-84923306 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84832637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 67
(I67F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002073]
[ENSMUST00000110254]
[ENSMUST00000163189]
[ENSMUST00000166383]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002073
AA Change: I1573F
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002073
Gene: ENSMUSG00000002020
AA Change: I1573F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
EGF
|
184 |
213 |
6.55e-1 |
SMART |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
EGF
|
384 |
413 |
8.19e-2 |
SMART |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:TB
|
546 |
582 |
3.8e-9 |
PFAM |
|
EGF_CA
|
606 |
646 |
8.05e-10 |
SMART |
|
Pfam:TB
|
666 |
707 |
3.4e-17 |
PFAM |
|
EGF_CA
|
832 |
874 |
7.18e-7 |
SMART |
|
EGF_CA
|
875 |
917 |
1.75e-10 |
SMART |
|
EGF_CA
|
918 |
957 |
1.53e-10 |
SMART |
|
EGF_CA
|
958 |
997 |
3.51e-10 |
SMART |
|
EGF_CA
|
998 |
1038 |
8.3e-12 |
SMART |
|
EGF_CA
|
1039 |
1080 |
4.56e-9 |
SMART |
|
EGF_CA
|
1081 |
1122 |
4.56e-9 |
SMART |
|
EGF_CA
|
1123 |
1163 |
8.76e-11 |
SMART |
|
EGF_CA
|
1164 |
1205 |
4.38e-11 |
SMART |
|
EGF_CA
|
1206 |
1246 |
1.75e-10 |
SMART |
|
EGF_CA
|
1247 |
1290 |
2.24e-8 |
SMART |
|
EGF_CA
|
1291 |
1332 |
6.01e-9 |
SMART |
|
EGF
|
1336 |
1375 |
1.95e1 |
SMART |
|
Pfam:TB
|
1410 |
1450 |
1.4e-13 |
PFAM |
|
EGF_CA
|
1473 |
1515 |
2.31e-10 |
SMART |
|
EGF_CA
|
1516 |
1555 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1582 |
1623 |
1e-13 |
PFAM |
|
low complexity region
|
1691 |
1704 |
N/A |
INTRINSIC |
|
EGF
|
1724 |
1761 |
4e-5 |
SMART |
|
EGF_CA
|
1762 |
1806 |
1.91e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110254
AA Change: I1550F
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105883
Gene: ENSMUSG00000002020
AA Change: I1550F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
128 |
N/A |
INTRINSIC |
|
EGF
|
204 |
233 |
6.55e-1 |
SMART |
|
low complexity region
|
275 |
295 |
N/A |
INTRINSIC |
|
EGF
|
404 |
433 |
8.19e-2 |
SMART |
|
low complexity region
|
535 |
546 |
N/A |
INTRINSIC |
|
Pfam:TB
|
565 |
602 |
4e-8 |
PFAM |
|
EGF_CA
|
626 |
666 |
8.05e-10 |
SMART |
|
Pfam:TB
|
685 |
727 |
3.7e-16 |
PFAM |
|
EGF_CA
|
852 |
894 |
7.18e-7 |
SMART |
|
EGF_CA
|
895 |
934 |
1.53e-10 |
SMART |
|
EGF_CA
|
935 |
974 |
3.51e-10 |
SMART |
|
EGF_CA
|
975 |
1015 |
8.3e-12 |
SMART |
|
EGF_CA
|
1016 |
1057 |
4.56e-9 |
SMART |
|
EGF_CA
|
1058 |
1099 |
4.56e-9 |
SMART |
|
EGF_CA
|
1100 |
1140 |
8.76e-11 |
SMART |
|
EGF_CA
|
1141 |
1182 |
4.38e-11 |
SMART |
|
EGF_CA
|
1183 |
1223 |
1.75e-10 |
SMART |
|
EGF_CA
|
1224 |
1267 |
2.24e-8 |
SMART |
|
EGF_CA
|
1268 |
1309 |
6.01e-9 |
SMART |
|
EGF
|
1313 |
1352 |
1.95e1 |
SMART |
|
Pfam:TB
|
1387 |
1427 |
1.4e-11 |
PFAM |
|
EGF_CA
|
1450 |
1492 |
2.31e-10 |
SMART |
|
EGF_CA
|
1493 |
1532 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1558 |
1600 |
4.6e-13 |
PFAM |
|
low complexity region
|
1668 |
1681 |
N/A |
INTRINSIC |
|
EGF
|
1701 |
1738 |
4e-5 |
SMART |
|
EGF_CA
|
1739 |
1783 |
1.91e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163189
AA Change: I1530F
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127693
Gene: ENSMUSG00000002020
AA Change: I1530F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
108 |
N/A |
INTRINSIC |
|
EGF
|
184 |
213 |
6.55e-1 |
SMART |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
EGF
|
384 |
413 |
8.19e-2 |
SMART |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
Pfam:TB
|
545 |
582 |
4e-8 |
PFAM |
|
EGF_CA
|
606 |
646 |
8.05e-10 |
SMART |
|
Pfam:TB
|
665 |
707 |
3.8e-16 |
PFAM |
|
EGF_CA
|
832 |
874 |
7.18e-7 |
SMART |
|
EGF_CA
|
875 |
914 |
1.53e-10 |
SMART |
|
EGF_CA
|
915 |
954 |
3.51e-10 |
SMART |
|
EGF_CA
|
955 |
995 |
8.3e-12 |
SMART |
|
EGF_CA
|
996 |
1037 |
4.56e-9 |
SMART |
|
EGF_CA
|
1038 |
1079 |
4.56e-9 |
SMART |
|
EGF_CA
|
1080 |
1120 |
8.76e-11 |
SMART |
|
EGF_CA
|
1121 |
1162 |
4.38e-11 |
SMART |
|
EGF_CA
|
1163 |
1203 |
1.75e-10 |
SMART |
|
EGF_CA
|
1204 |
1247 |
2.24e-8 |
SMART |
|
EGF_CA
|
1248 |
1289 |
6.01e-9 |
SMART |
|
EGF
|
1293 |
1332 |
1.95e1 |
SMART |
|
Pfam:TB
|
1367 |
1407 |
1.5e-11 |
PFAM |
|
EGF_CA
|
1430 |
1472 |
2.31e-10 |
SMART |
|
EGF_CA
|
1473 |
1512 |
7.93e-9 |
SMART |
|
Pfam:TB
|
1538 |
1580 |
4.7e-13 |
PFAM |
|
low complexity region
|
1648 |
1661 |
N/A |
INTRINSIC |
|
EGF
|
1681 |
1718 |
4e-5 |
SMART |
|
EGF_CA
|
1719 |
1763 |
1.91e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163214
|
| SMART Domains |
Protein: ENSMUSP00000132067
Gene: ENSMUSG00000002020
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_CA
|
6 |
46 |
8.76e-11 |
SMART |
|
EGF_CA
|
47 |
90 |
2.24e-8 |
SMART |
|
EGF_CA
|
91 |
132 |
6.01e-9 |
SMART |
|
EGF
|
136 |
175 |
1.95e1 |
SMART |
|
Pfam:TB
|
210 |
250 |
1.5e-14 |
PFAM |
|
EGF
|
276 |
307 |
1.5e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166383
AA Change: I67F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127255
Gene: ENSMUSG00000002020
AA Change: I67F
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_CA
|
8 |
49 |
2.13e-9 |
SMART |
|
Pfam:TB
|
75 |
117 |
1.3e-14 |
PFAM |
|
low complexity region
|
185 |
198 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early embryonic lethality prior to E6.5. Mice homozygous for a different null allele are viable, fertile, and developmentally normal but develop lens dislocations due to ciliary zonule fragmentation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,288,582 (GRCm39) |
M132V |
probably benign |
Het |
| 4921524L21Rik |
T |
A |
18: 6,620,205 (GRCm39) |
I45N |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,156,599 (GRCm39) |
V55A |
probably benign |
Het |
| Adam28 |
A |
T |
14: 68,881,780 (GRCm39) |
D105E |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,995,245 (GRCm39) |
S5510P |
probably damaging |
Het |
| Aldh3b1 |
T |
G |
19: 3,971,187 (GRCm39) |
D159A |
probably damaging |
Het |
| Alx1 |
A |
G |
10: 102,861,222 (GRCm39) |
L102P |
probably damaging |
Het |
| Ankrd50 |
C |
T |
3: 38,510,925 (GRCm39) |
V481I |
probably benign |
Het |
| Aox4 |
G |
T |
1: 58,303,561 (GRCm39) |
G1200W |
probably damaging |
Het |
| Arhgap45 |
A |
C |
10: 79,856,524 (GRCm39) |
D24A |
probably benign |
Het |
| Arhgef16 |
A |
T |
4: 154,364,780 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,445,876 (GRCm39) |
Y235F |
possibly damaging |
Het |
| Asph |
T |
C |
4: 9,453,335 (GRCm39) |
E646G |
probably damaging |
Het |
| Atg4d |
A |
G |
9: 21,183,935 (GRCm39) |
D350G |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,472,412 (GRCm39) |
T347A |
probably damaging |
Het |
| Bsnd |
A |
T |
4: 106,345,227 (GRCm39) |
L73* |
probably null |
Het |
| Cachd1 |
A |
T |
4: 100,810,366 (GRCm39) |
S323C |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,312,195 (GRCm39) |
I1290T |
probably damaging |
Het |
| Cdh8 |
T |
A |
8: 99,825,502 (GRCm39) |
N498Y |
probably damaging |
Het |
| Cdkn3 |
A |
G |
14: 47,007,291 (GRCm39) |
|
probably null |
Het |
| Celf2 |
A |
T |
2: 6,620,564 (GRCm39) |
M40K |
probably damaging |
Het |
| Cfap57 |
A |
C |
4: 118,472,207 (GRCm39) |
S57R |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,063,879 (GRCm39) |
|
probably null |
Het |
| Chdh |
A |
G |
14: 29,754,745 (GRCm39) |
S252G |
probably benign |
Het |
| Col8a1 |
T |
A |
16: 57,448,287 (GRCm39) |
I408F |
unknown |
Het |
| Corin |
C |
T |
5: 72,515,746 (GRCm39) |
C303Y |
probably damaging |
Het |
| Crlf2 |
C |
T |
5: 109,705,007 (GRCm39) |
C66Y |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,284,012 (GRCm39) |
|
probably null |
Het |
| Cyp4f16 |
T |
C |
17: 32,764,018 (GRCm39) |
V270A |
probably damaging |
Het |
| Defa29 |
T |
A |
8: 21,816,028 (GRCm39) |
H113L |
possibly damaging |
Het |
| Dhx35 |
A |
T |
2: 158,684,227 (GRCm39) |
N501Y |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,522,716 (GRCm39) |
E55G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,330,931 (GRCm39) |
R4690G |
probably damaging |
Het |
| Elac2 |
T |
A |
11: 64,885,089 (GRCm39) |
D439E |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,298,760 (GRCm39) |
R1383G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,881,284 (GRCm39) |
Y3196F |
probably damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,010,611 (GRCm39) |
D342E |
probably benign |
Het |
| Fmod |
A |
G |
1: 133,968,458 (GRCm39) |
N166S |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,412,175 (GRCm39) |
S199P |
possibly damaging |
Het |
| Fv1 |
A |
G |
4: 147,954,235 (GRCm39) |
N267S |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,402,828 (GRCm39) |
V200A |
possibly damaging |
Het |
| Gfus |
A |
T |
15: 75,797,498 (GRCm39) |
D278E |
possibly damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,753,122 (GRCm39) |
N39S |
probably benign |
Het |
| Gm10509 |
A |
T |
17: 21,909,831 (GRCm39) |
I53F |
possibly damaging |
Het |
| Gpr139 |
A |
T |
7: 118,744,102 (GRCm39) |
I161N |
possibly damaging |
Het |
| Grhl2 |
C |
T |
15: 37,358,651 (GRCm39) |
T148I |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,480,633 (GRCm39) |
M4514I |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,236,993 (GRCm39) |
T1063P |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,625,830 (GRCm39) |
Y792C |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,135 (GRCm39) |
Q456R |
probably benign |
Het |
| Jph4 |
G |
A |
14: 55,345,818 (GRCm39) |
A613V |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,717 (GRCm39) |
T433A |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,697,393 (GRCm39) |
K97R |
probably benign |
Het |
| Krba1 |
C |
A |
6: 48,392,699 (GRCm39) |
A871E |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,427,833 (GRCm39) |
F468L |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,596,728 (GRCm39) |
V713A |
probably damaging |
Het |
| Mdc1 |
G |
A |
17: 36,155,430 (GRCm39) |
R35H |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,703 (GRCm39) |
D872G |
probably benign |
Het |
| Mgam |
C |
T |
6: 40,741,119 (GRCm39) |
Q959* |
probably null |
Het |
| Mttp |
T |
A |
3: 137,821,788 (GRCm39) |
T260S |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,287,831 (GRCm39) |
D266E |
probably benign |
Het |
| Nans |
T |
A |
4: 46,500,162 (GRCm39) |
L182H |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,616,145 (GRCm39) |
C2228S |
probably benign |
Het |
| Nfix |
A |
T |
8: 85,448,306 (GRCm39) |
V407E |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,579,306 (GRCm39) |
|
probably benign |
Het |
| Nlrp10 |
G |
A |
7: 108,524,602 (GRCm39) |
R293* |
probably null |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or11h4 |
G |
A |
14: 50,974,235 (GRCm39) |
P128L |
probably damaging |
Het |
| Or12e7 |
T |
C |
2: 87,287,727 (GRCm39) |
S73P |
probably damaging |
Het |
| Or1e21 |
A |
T |
11: 73,344,820 (GRCm39) |
F73I |
probably damaging |
Het |
| Or2f2 |
T |
C |
6: 42,767,411 (GRCm39) |
I146T |
probably benign |
Het |
| Or3a1c |
T |
C |
11: 74,046,711 (GRCm39) |
C244R |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,604 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,946,014 (GRCm39) |
L58P |
probably damaging |
Het |
| Or6d12 |
A |
G |
6: 116,492,950 (GRCm39) |
T71A |
probably benign |
Het |
| Oxld1 |
A |
G |
11: 120,347,732 (GRCm39) |
V155A |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,645 (GRCm39) |
F648Y |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,932,497 (GRCm39) |
W446R |
probably damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,915 (GRCm39) |
T23S |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
| Phf7 |
T |
C |
14: 30,962,281 (GRCm39) |
I175V |
possibly damaging |
Het |
| Pibf1 |
G |
A |
14: 99,425,245 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,251,308 (GRCm39) |
I295V |
probably benign |
Het |
| Pole2 |
A |
C |
12: 69,256,764 (GRCm39) |
Y254D |
probably damaging |
Het |
| Ppm1e |
T |
A |
11: 87,135,196 (GRCm39) |
I225F |
probably benign |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,230,342 (GRCm39) |
D1129E |
possibly damaging |
Het |
| Rnase2b |
T |
G |
14: 51,400,357 (GRCm39) |
V146G |
probably damaging |
Het |
| Rnf169 |
G |
A |
7: 99,575,461 (GRCm39) |
T378I |
probably damaging |
Het |
| Rpf2 |
A |
G |
10: 40,112,197 (GRCm39) |
F80L |
probably benign |
Het |
| Sec11c |
T |
A |
18: 65,947,945 (GRCm39) |
D128E |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,417 (GRCm39) |
V248A |
probably damaging |
Het |
| Serinc1 |
T |
C |
10: 57,401,547 (GRCm39) |
N82S |
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,967,508 (GRCm39) |
W296G |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,384,503 (GRCm39) |
D164E |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,825,977 (GRCm39) |
N223D |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,325,815 (GRCm39) |
Y12H |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 74,154,359 (GRCm39) |
F42S |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx7 |
A |
T |
3: 117,623,317 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
A |
T |
9: 41,993,246 (GRCm39) |
D259E |
probably damaging |
Het |
| Stpg2 |
G |
A |
3: 139,228,742 (GRCm39) |
|
probably null |
Het |
| Strn |
T |
A |
17: 78,991,824 (GRCm39) |
Y165F |
probably damaging |
Het |
| Sval2 |
T |
A |
6: 41,841,254 (GRCm39) |
*106R |
probably null |
Het |
| Tcaf3 |
A |
G |
6: 42,573,622 (GRCm39) |
S197P |
possibly damaging |
Het |
| Tespa1 |
C |
A |
10: 130,190,592 (GRCm39) |
T73N |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Thoc5 |
C |
A |
11: 4,865,561 (GRCm39) |
T380K |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,476,911 (GRCm39) |
R784* |
probably null |
Het |
| Trank1 |
A |
T |
9: 111,219,777 (GRCm39) |
L2171F |
probably benign |
Het |
| Trpm2 |
T |
G |
10: 77,781,710 (GRCm39) |
K303T |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,549,784 (GRCm39) |
V681M |
probably damaging |
Het |
| Usp40 |
A |
G |
1: 87,874,368 (GRCm39) |
F1131L |
probably benign |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,673 (GRCm39) |
I238F |
possibly damaging |
Het |
| Vwa3a |
A |
T |
7: 120,394,850 (GRCm39) |
Y890F |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,171 (GRCm39) |
L234P |
probably damaging |
Het |
| Zfp109 |
A |
G |
7: 23,927,676 (GRCm39) |
S578P |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,674,418 (GRCm39) |
D121G |
unknown |
Het |
| Zgrf1 |
G |
T |
3: 127,356,786 (GRCm39) |
V671L |
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,704,927 (GRCm39) |
C265* |
probably null |
Het |
| Zscan26 |
T |
C |
13: 21,629,310 (GRCm39) |
I398V |
possibly damaging |
Het |
|
| Other mutations in Ltbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Ltbp2
|
APN |
12 |
84,837,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00938:Ltbp2
|
APN |
12 |
84,878,573 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01397:Ltbp2
|
APN |
12 |
84,837,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01570:Ltbp2
|
APN |
12 |
84,840,807 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01631:Ltbp2
|
APN |
12 |
84,855,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01662:Ltbp2
|
APN |
12 |
84,856,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01728:Ltbp2
|
APN |
12 |
84,837,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01839:Ltbp2
|
APN |
12 |
84,840,432 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01946:Ltbp2
|
APN |
12 |
84,877,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Ltbp2
|
APN |
12 |
84,876,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Ltbp2
|
APN |
12 |
84,876,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02340:Ltbp2
|
APN |
12 |
84,839,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02430:Ltbp2
|
APN |
12 |
84,846,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02492:Ltbp2
|
APN |
12 |
84,856,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Ltbp2
|
APN |
12 |
84,832,091 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02794:Ltbp2
|
APN |
12 |
84,838,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deft
|
UTSW |
12 |
84,900,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
masterful
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
practiced
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Ltbp2
|
UTSW |
12 |
84,860,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Ltbp2
|
UTSW |
12 |
84,856,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Ltbp2
|
UTSW |
12 |
84,840,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Ltbp2
|
UTSW |
12 |
84,846,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Ltbp2
|
UTSW |
12 |
84,833,132 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0265:Ltbp2
|
UTSW |
12 |
84,832,743 (GRCm39) |
splice site |
probably null |
|
|
R0394:Ltbp2
|
UTSW |
12 |
84,853,198 (GRCm39) |
splice site |
probably benign |
|
|
R0535:Ltbp2
|
UTSW |
12 |
84,837,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Ltbp2
|
UTSW |
12 |
84,831,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ltbp2
|
UTSW |
12 |
84,860,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Ltbp2
|
UTSW |
12 |
84,860,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Ltbp2
|
UTSW |
12 |
84,838,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Ltbp2
|
UTSW |
12 |
84,877,555 (GRCm39) |
nonsense |
probably null |
|
|
R1880:Ltbp2
|
UTSW |
12 |
84,876,045 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1894:Ltbp2
|
UTSW |
12 |
84,834,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Ltbp2
|
UTSW |
12 |
84,877,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Ltbp2
|
UTSW |
12 |
84,876,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1993:Ltbp2
|
UTSW |
12 |
84,855,220 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1995:Ltbp2
|
UTSW |
12 |
84,855,220 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2069:Ltbp2
|
UTSW |
12 |
84,840,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Ltbp2
|
UTSW |
12 |
84,832,483 (GRCm39) |
splice site |
probably null |
|
|
R2139:Ltbp2
|
UTSW |
12 |
84,862,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Ltbp2
|
UTSW |
12 |
84,855,937 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2511:Ltbp2
|
UTSW |
12 |
84,851,183 (GRCm39) |
splice site |
probably null |
|
|
R3737:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Ltbp2
|
UTSW |
12 |
84,831,681 (GRCm39) |
unclassified |
probably benign |
|
|
R4034:Ltbp2
|
UTSW |
12 |
84,851,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Ltbp2
|
UTSW |
12 |
84,878,593 (GRCm39) |
nonsense |
probably null |
|
|
R4621:Ltbp2
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Ltbp2
|
UTSW |
12 |
84,856,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Ltbp2
|
UTSW |
12 |
84,840,414 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5080:Ltbp2
|
UTSW |
12 |
84,850,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5116:Ltbp2
|
UTSW |
12 |
84,856,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5351:Ltbp2
|
UTSW |
12 |
84,837,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5445:Ltbp2
|
UTSW |
12 |
84,856,428 (GRCm39) |
missense |
probably null |
1.00 |
|
R5608:Ltbp2
|
UTSW |
12 |
84,834,238 (GRCm39) |
splice site |
probably null |
|
|
R5784:Ltbp2
|
UTSW |
12 |
84,915,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Ltbp2
|
UTSW |
12 |
84,835,875 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5859:Ltbp2
|
UTSW |
12 |
84,840,837 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6004:Ltbp2
|
UTSW |
12 |
84,922,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6028:Ltbp2
|
UTSW |
12 |
84,831,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Ltbp2
|
UTSW |
12 |
84,900,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6615:Ltbp2
|
UTSW |
12 |
84,860,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Ltbp2
|
UTSW |
12 |
84,922,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6637:Ltbp2
|
UTSW |
12 |
84,922,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6755:Ltbp2
|
UTSW |
12 |
84,841,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Ltbp2
|
UTSW |
12 |
84,834,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6806:Ltbp2
|
UTSW |
12 |
84,856,012 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6968:Ltbp2
|
UTSW |
12 |
84,835,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7084:Ltbp2
|
UTSW |
12 |
84,915,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Ltbp2
|
UTSW |
12 |
84,834,166 (GRCm39) |
nonsense |
probably null |
|
|
R7374:Ltbp2
|
UTSW |
12 |
84,876,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Ltbp2
|
UTSW |
12 |
84,877,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Ltbp2
|
UTSW |
12 |
84,837,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7754:Ltbp2
|
UTSW |
12 |
84,860,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7827:Ltbp2
|
UTSW |
12 |
84,836,655 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8042:Ltbp2
|
UTSW |
12 |
84,838,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8110:Ltbp2
|
UTSW |
12 |
84,850,676 (GRCm39) |
nonsense |
probably null |
|
|
R8411:Ltbp2
|
UTSW |
12 |
84,833,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Ltbp2
|
UTSW |
12 |
84,850,578 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8711:Ltbp2
|
UTSW |
12 |
84,900,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8712:Ltbp2
|
UTSW |
12 |
84,853,124 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8893:Ltbp2
|
UTSW |
12 |
84,875,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Ltbp2
|
UTSW |
12 |
84,834,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9016:Ltbp2
|
UTSW |
12 |
84,856,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9123:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9129:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9132:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9144:Ltbp2
|
UTSW |
12 |
84,856,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9152:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9158:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9159:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Ltbp2
|
UTSW |
12 |
84,832,750 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9212:Ltbp2
|
UTSW |
12 |
84,839,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Ltbp2
|
UTSW |
12 |
84,876,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9276:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9278:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9279:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9280:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9281:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9312:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9313:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Ltbp2
|
UTSW |
12 |
84,922,965 (GRCm39) |
missense |
probably benign |
|
|
R9355:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9377:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9378:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9450:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9457:Ltbp2
|
UTSW |
12 |
84,835,927 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9486:Ltbp2
|
UTSW |
12 |
84,878,648 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9505:Ltbp2
|
UTSW |
12 |
84,900,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9581:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9582:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9645:Ltbp2
|
UTSW |
12 |
84,837,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9747:Ltbp2
|
UTSW |
12 |
84,915,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Ltbp2
|
UTSW |
12 |
84,876,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9795:Ltbp2
|
UTSW |
12 |
84,876,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Ltbp2
|
UTSW |
12 |
84,875,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ltbp2
|
UTSW |
12 |
84,876,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ltbp2
|
UTSW |
12 |
84,922,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ltbp2
|
UTSW |
12 |
84,876,090 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTCAGGGTGAGGTATCCCC -3'
(R):5'- GTGTGAACACAGAAGGCTCC -3'
Sequencing Primer
(F):5'- TGAGGTATCCCCTTCCCAGAG -3'
(R):5'- GAAGGCTCCTTCCATTGCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation