Incidental Mutation 'R1694:Ltbp1'
| ID |
192081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp1
|
| Ensembl Gene |
ENSMUSG00000001870 |
| Gene Name |
latent transforming growth factor beta binding protein 1 |
| Synonyms |
9430031G15Rik, Ltbp1L, b2b1000Clo, LTBP-1 |
| MMRRC Submission |
039727-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75312563-75699507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75532280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 118
(Q118R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001927]
[ENSMUST00000112514]
[ENSMUST00000112516]
[ENSMUST00000135447]
|
| AlphaFold |
Q8CG19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001927
AA Change: Q436R
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: Q436R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
158 |
N/A |
INTRINSIC |
|
EGF
|
184 |
213 |
9.27e-1 |
SMART |
|
EGF
|
394 |
423 |
2.23e-3 |
SMART |
|
Pfam:TB
|
559 |
601 |
2.4e-9 |
PFAM |
|
EGF_CA
|
618 |
658 |
9.39e-11 |
SMART |
|
Pfam:TB
|
680 |
720 |
1e-18 |
PFAM |
|
low complexity region
|
839 |
849 |
N/A |
INTRINSIC |
|
EGF_CA
|
865 |
906 |
5.83e-7 |
SMART |
|
EGF_CA
|
907 |
948 |
6.39e-13 |
SMART |
|
EGF_CA
|
949 |
989 |
4.25e-9 |
SMART |
|
EGF_CA
|
990 |
1029 |
2.44e-9 |
SMART |
|
EGF_CA
|
1030 |
1070 |
5.87e-12 |
SMART |
|
EGF_CA
|
1071 |
1111 |
3.61e-12 |
SMART |
|
EGF_CA
|
1112 |
1152 |
1.57e-12 |
SMART |
|
EGF_CA
|
1153 |
1193 |
1.75e-10 |
SMART |
|
EGF_CA
|
1194 |
1235 |
6.74e-12 |
SMART |
|
EGF_CA
|
1236 |
1277 |
3.22e-9 |
SMART |
|
EGF
|
1281 |
1320 |
2.16e1 |
SMART |
|
Pfam:TB
|
1349 |
1391 |
5.6e-17 |
PFAM |
|
EGF
|
1418 |
1457 |
1.14e0 |
SMART |
|
EGF_CA
|
1458 |
1498 |
2.68e-6 |
SMART |
|
Pfam:TB
|
1526 |
1567 |
4.2e-15 |
PFAM |
|
EGF
|
1615 |
1652 |
1e-5 |
SMART |
|
EGF_CA
|
1653 |
1697 |
5.11e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112514
AA Change: Q118R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: Q118R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
76 |
105 |
2.23e-3 |
SMART |
|
Pfam:TB
|
240 |
283 |
9.5e-13 |
PFAM |
|
EGF_CA
|
300 |
340 |
9.39e-11 |
SMART |
|
Pfam:TB
|
361 |
400 |
3.1e-17 |
PFAM |
|
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
|
EGF_CA
|
494 |
535 |
5.83e-7 |
SMART |
|
EGF_CA
|
536 |
577 |
6.39e-13 |
SMART |
|
EGF_CA
|
578 |
618 |
4.25e-9 |
SMART |
|
EGF_CA
|
619 |
658 |
2.44e-9 |
SMART |
|
EGF_CA
|
659 |
699 |
5.87e-12 |
SMART |
|
EGF_CA
|
700 |
740 |
3.61e-12 |
SMART |
|
EGF_CA
|
741 |
781 |
1.57e-12 |
SMART |
|
EGF_CA
|
782 |
822 |
1.75e-10 |
SMART |
|
EGF_CA
|
823 |
864 |
6.74e-12 |
SMART |
|
EGF_CA
|
865 |
906 |
3.22e-9 |
SMART |
|
EGF
|
910 |
949 |
2.16e1 |
SMART |
|
Pfam:TB
|
977 |
1020 |
4.3e-20 |
PFAM |
|
EGF
|
1047 |
1086 |
1.14e0 |
SMART |
|
EGF_CA
|
1087 |
1127 |
2.68e-6 |
SMART |
|
Pfam:TB
|
1154 |
1196 |
1.3e-17 |
PFAM |
|
EGF
|
1244 |
1281 |
1e-5 |
SMART |
|
EGF_CA
|
1282 |
1326 |
5.11e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112516
AA Change: Q118R
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: Q118R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
76 |
105 |
2.23e-3 |
SMART |
|
Pfam:TB
|
240 |
283 |
9.9e-13 |
PFAM |
|
EGF_CA
|
300 |
340 |
9.39e-11 |
SMART |
|
Pfam:TB
|
361 |
402 |
7.6e-20 |
PFAM |
|
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
|
EGF_CA
|
547 |
588 |
5.83e-7 |
SMART |
|
EGF_CA
|
589 |
630 |
6.39e-13 |
SMART |
|
EGF_CA
|
631 |
671 |
4.25e-9 |
SMART |
|
EGF_CA
|
672 |
711 |
2.44e-9 |
SMART |
|
EGF_CA
|
712 |
752 |
5.87e-12 |
SMART |
|
EGF_CA
|
753 |
793 |
3.61e-12 |
SMART |
|
EGF_CA
|
794 |
834 |
1.57e-12 |
SMART |
|
EGF_CA
|
835 |
875 |
1.75e-10 |
SMART |
|
EGF_CA
|
876 |
917 |
6.74e-12 |
SMART |
|
EGF_CA
|
918 |
959 |
3.22e-9 |
SMART |
|
EGF
|
963 |
1002 |
2.16e1 |
SMART |
|
Pfam:TB
|
1030 |
1073 |
4.5e-20 |
PFAM |
|
EGF
|
1100 |
1139 |
1.14e0 |
SMART |
|
EGF_CA
|
1140 |
1180 |
2.68e-6 |
SMART |
|
Pfam:TB
|
1207 |
1249 |
1.4e-17 |
PFAM |
|
EGF
|
1297 |
1334 |
1e-5 |
SMART |
|
EGF_CA
|
1335 |
1379 |
5.11e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135447
AA Change: Q118R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000116890
Gene: ENSMUSG00000001870
AA Change: Q118R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
76 |
105 |
1.1e-5 |
SMART |
|
Pfam:TB
|
240 |
283 |
4.3e-10 |
PFAM |
|
EGF_CA
|
300 |
340 |
4.4e-13 |
SMART |
|
Pfam:TB
|
361 |
402 |
3.3e-17 |
PFAM |
|
low complexity region
|
521 |
531 |
N/A |
INTRINSIC |
|
EGF_CA
|
547 |
588 |
2.9e-9 |
SMART |
|
EGF_CA
|
589 |
630 |
3e-15 |
SMART |
|
EGF_CA
|
631 |
671 |
2.1e-11 |
SMART |
|
EGF_CA
|
672 |
711 |
1.2e-11 |
SMART |
|
EGF_CA
|
712 |
752 |
2.8e-14 |
SMART |
|
EGF_CA
|
753 |
793 |
1.8e-14 |
SMART |
|
EGF_CA
|
794 |
834 |
7.5e-15 |
SMART |
|
EGF_CA
|
835 |
875 |
8.4e-13 |
SMART |
|
EGF_CA
|
876 |
917 |
3.2e-14 |
SMART |
|
EGF_CA
|
918 |
959 |
1.6e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.1099 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| 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 TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
T |
C |
10: 120,614,533 (GRCm39) |
|
probably benign |
Het |
| 4930447C04Rik |
C |
T |
12: 72,931,992 (GRCm39) |
|
probably null |
Het |
| Abca16 |
A |
G |
7: 120,119,307 (GRCm39) |
H1017R |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,807,207 (GRCm39) |
Y510C |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,664 (GRCm39) |
T341A |
probably damaging |
Het |
| Agbl5 |
A |
G |
5: 31,050,726 (GRCm39) |
Y458C |
probably damaging |
Het |
| Akap5 |
C |
T |
12: 76,376,698 (GRCm39) |
S710L |
probably damaging |
Het |
| Akr1c21 |
A |
G |
13: 4,625,177 (GRCm39) |
E36G |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,944,023 (GRCm39) |
S163P |
probably damaging |
Het |
| Armc1 |
A |
G |
3: 19,189,050 (GRCm39) |
V205A |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,610,869 (GRCm39) |
L102P |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,422,925 (GRCm39) |
E74G |
probably damaging |
Het |
| Brms1l |
A |
G |
12: 55,888,385 (GRCm39) |
R58G |
probably damaging |
Het |
| C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
| Calcrl |
A |
T |
2: 84,169,631 (GRCm39) |
L350H |
probably damaging |
Het |
| Casr |
A |
T |
16: 36,315,953 (GRCm39) |
F706I |
probably damaging |
Het |
| Ceacam10 |
T |
A |
7: 24,480,491 (GRCm39) |
N87K |
probably benign |
Het |
| Cfap206 |
G |
T |
4: 34,719,058 (GRCm39) |
T316K |
probably damaging |
Het |
| Col4a3 |
A |
T |
1: 82,668,384 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,398 (GRCm39) |
V183A |
probably damaging |
Het |
| Crygs |
A |
T |
16: 22,625,425 (GRCm39) |
|
probably null |
Het |
| Dact1 |
C |
A |
12: 71,359,551 (GRCm39) |
T139K |
probably damaging |
Het |
| Dlx6 |
T |
C |
6: 6,867,173 (GRCm39) |
W259R |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,845,650 (GRCm39) |
S627* |
probably null |
Het |
| Dnajc11 |
T |
A |
4: 152,063,730 (GRCm39) |
V442D |
probably damaging |
Het |
| Dnajc21 |
A |
T |
15: 10,451,649 (GRCm39) |
S393T |
probably benign |
Het |
| Dpysl3 |
C |
A |
18: 43,461,439 (GRCm39) |
C584F |
possibly damaging |
Het |
| Efcab14 |
A |
G |
4: 115,603,736 (GRCm39) |
K138R |
possibly damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,495 (GRCm39) |
E577G |
probably damaging |
Het |
| Exoc3 |
C |
T |
13: 74,338,184 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
A |
G |
2: 3,226,660 (GRCm39) |
S473G |
probably benign |
Het |
| Fbxl2 |
A |
T |
9: 113,832,239 (GRCm39) |
F58L |
probably damaging |
Het |
| Fmo6 |
T |
C |
1: 162,750,241 (GRCm39) |
M272V |
probably benign |
Het |
| Gm10000 |
T |
C |
12: 104,442,859 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
T |
A |
16: 87,746,956 (GRCm39) |
D442V |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,791,375 (GRCm39) |
Y2588H |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,711,369 (GRCm39) |
T430P |
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,577,709 (GRCm39) |
S278P |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,636,723 (GRCm39) |
T463A |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,835,746 (GRCm39) |
F1809L |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Magoh |
G |
T |
4: 107,740,362 (GRCm39) |
R82L |
probably benign |
Het |
| Mdfic2 |
A |
C |
6: 98,215,100 (GRCm39) |
S174R |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,057,543 (GRCm39) |
V756A |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,313,915 (GRCm39) |
E757G |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,464,947 (GRCm39) |
T1339A |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,455,113 (GRCm39) |
E46V |
probably damaging |
Het |
| Naalad2 |
T |
A |
9: 18,238,683 (GRCm39) |
R677S |
probably damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,361,749 (GRCm39) |
T324I |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,787,886 (GRCm39) |
L1389Q |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,107,681 (GRCm39) |
|
probably null |
Het |
| Nup210 |
A |
C |
6: 91,039,785 (GRCm39) |
I690S |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,547 (GRCm39) |
S177T |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,246,281 (GRCm39) |
I229N |
probably damaging |
Het |
| Or9r7 |
T |
A |
10: 129,962,123 (GRCm39) |
I268F |
possibly damaging |
Het |
| Otud7a |
C |
A |
7: 63,383,458 (GRCm39) |
H316N |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,429,995 (GRCm39) |
S1241P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,570,977 (GRCm39) |
K121E |
probably damaging |
Het |
| Pcmtd1 |
A |
T |
1: 7,217,872 (GRCm39) |
I107L |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,168,673 (GRCm39) |
I755V |
probably damaging |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,113,240 (GRCm39) |
I1532N |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,271,428 (GRCm39) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,474,621 (GRCm39) |
N661S |
probably null |
Het |
| Plekhd1 |
A |
G |
12: 80,769,095 (GRCm39) |
K452E |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,678,003 (GRCm39) |
V2003F |
unknown |
Het |
| Ptger1 |
G |
A |
8: 84,395,107 (GRCm39) |
G195R |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,711,240 (GRCm39) |
Q67R |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,136,094 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
C |
12: 72,270,298 (GRCm39) |
Y71C |
probably damaging |
Het |
| Rtp4 |
T |
C |
16: 23,431,870 (GRCm39) |
*62Q |
probably null |
Het |
| Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
| Scimp |
G |
T |
11: 70,684,618 (GRCm39) |
P78H |
probably damaging |
Het |
| Scn8a |
C |
A |
15: 100,853,409 (GRCm39) |
S132* |
probably null |
Het |
| Set |
A |
G |
2: 29,959,436 (GRCm39) |
I124M |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sgce |
A |
G |
6: 4,689,709 (GRCm39) |
S375P |
probably damaging |
Het |
| Slc4a1ap |
G |
C |
5: 31,701,098 (GRCm39) |
E600Q |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,626,031 (GRCm39) |
V577A |
possibly damaging |
Het |
| Sqstm1 |
A |
G |
11: 50,098,307 (GRCm39) |
V153A |
probably benign |
Het |
| Src |
A |
G |
2: 157,311,675 (GRCm39) |
M468V |
possibly damaging |
Het |
| Srrm3 |
A |
G |
5: 135,902,079 (GRCm39) |
|
probably benign |
Het |
| Stk11ip |
C |
T |
1: 75,504,030 (GRCm39) |
R257W |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,433,443 (GRCm39) |
D32E |
probably damaging |
Het |
| Tor1aip2 |
A |
T |
1: 155,941,031 (GRCm39) |
I446L |
probably benign |
Het |
| Trmt11 |
T |
C |
10: 30,411,221 (GRCm39) |
H424R |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,563,928 (GRCm39) |
Y1612H |
probably benign |
Het |
| Vcan |
A |
T |
13: 89,836,602 (GRCm39) |
S2981T |
probably damaging |
Het |
| Vdac1 |
G |
C |
11: 52,265,190 (GRCm39) |
G21A |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,231,399 (GRCm39) |
T328A |
probably benign |
Het |
| Xrcc5 |
C |
T |
1: 72,358,255 (GRCm39) |
L197F |
possibly damaging |
Het |
| Zfhx2 |
G |
C |
14: 55,311,401 (GRCm39) |
S431C |
possibly damaging |
Het |
| Zfp410 |
C |
T |
12: 84,372,494 (GRCm39) |
P54S |
probably benign |
Het |
| Zfp560 |
C |
A |
9: 20,259,282 (GRCm39) |
G527* |
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,389 (GRCm39) |
T88A |
possibly damaging |
Het |
| Zfp780b |
T |
A |
7: 27,663,808 (GRCm39) |
H249L |
possibly damaging |
Het |
|
| Other mutations in Ltbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Ltbp1
|
APN |
17 |
75,532,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00156:Ltbp1
|
APN |
17 |
75,692,155 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00161:Ltbp1
|
APN |
17 |
75,617,147 (GRCm39) |
splice site |
probably benign |
|
|
IGL00771:Ltbp1
|
APN |
17 |
75,669,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00822:Ltbp1
|
APN |
17 |
75,458,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01760:Ltbp1
|
APN |
17 |
75,534,145 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01796:Ltbp1
|
APN |
17 |
75,534,240 (GRCm39) |
splice site |
probably benign |
|
|
IGL01826:Ltbp1
|
APN |
17 |
75,599,835 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02372:Ltbp1
|
APN |
17 |
75,559,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02792:Ltbp1
|
APN |
17 |
75,589,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02862:Ltbp1
|
APN |
17 |
75,697,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Ltbp1
|
APN |
17 |
75,589,413 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03345:Ltbp1
|
APN |
17 |
75,373,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03404:Ltbp1
|
APN |
17 |
75,532,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Hiphop
|
UTSW |
17 |
75,666,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Pygea
|
UTSW |
17 |
75,634,223 (GRCm39) |
nonsense |
probably null |
|
|
Twist
|
UTSW |
17 |
75,617,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Ltbp1
|
UTSW |
17 |
75,670,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Ltbp1
|
UTSW |
17 |
75,670,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Ltbp1
|
UTSW |
17 |
75,671,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Ltbp1
|
UTSW |
17 |
75,671,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Ltbp1
|
UTSW |
17 |
75,583,504 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0033:Ltbp1
|
UTSW |
17 |
75,583,504 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0034:Ltbp1
|
UTSW |
17 |
75,354,563 (GRCm39) |
intron |
probably benign |
|
|
R0068:Ltbp1
|
UTSW |
17 |
75,666,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Ltbp1
|
UTSW |
17 |
75,666,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Ltbp1
|
UTSW |
17 |
75,589,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0554:Ltbp1
|
UTSW |
17 |
75,532,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0584:Ltbp1
|
UTSW |
17 |
75,670,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Ltbp1
|
UTSW |
17 |
75,559,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0991:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1084:Ltbp1
|
UTSW |
17 |
75,666,420 (GRCm39) |
nonsense |
probably null |
|
|
R1114:Ltbp1
|
UTSW |
17 |
75,667,770 (GRCm39) |
missense |
probably benign |
|
|
R1177:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1179:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1195:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1245:Ltbp1
|
UTSW |
17 |
75,634,189 (GRCm39) |
splice site |
probably benign |
|
|
R1246:Ltbp1
|
UTSW |
17 |
75,692,156 (GRCm39) |
nonsense |
probably null |
|
|
R1258:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1259:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1260:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1262:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1265:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1267:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1269:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1272:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1411:Ltbp1
|
UTSW |
17 |
75,532,280 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1579:Ltbp1
|
UTSW |
17 |
75,559,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1705:Ltbp1
|
UTSW |
17 |
75,692,196 (GRCm39) |
splice site |
probably null |
|
|
R1716:Ltbp1
|
UTSW |
17 |
75,622,019 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1815:Ltbp1
|
UTSW |
17 |
75,559,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1932:Ltbp1
|
UTSW |
17 |
75,620,029 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1951:Ltbp1
|
UTSW |
17 |
75,458,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2044:Ltbp1
|
UTSW |
17 |
75,583,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2120:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2121:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2122:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2171:Ltbp1
|
UTSW |
17 |
75,598,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2237:Ltbp1
|
UTSW |
17 |
75,617,158 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2655:Ltbp1
|
UTSW |
17 |
75,312,978 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2941:Ltbp1
|
UTSW |
17 |
75,486,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Ltbp1
|
UTSW |
17 |
75,666,273 (GRCm39) |
splice site |
probably null |
|
|
R3177:Ltbp1
|
UTSW |
17 |
75,583,475 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3277:Ltbp1
|
UTSW |
17 |
75,666,273 (GRCm39) |
splice site |
probably null |
|
|
R3277:Ltbp1
|
UTSW |
17 |
75,583,475 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3797:Ltbp1
|
UTSW |
17 |
75,669,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Ltbp1
|
UTSW |
17 |
75,666,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3897:Ltbp1
|
UTSW |
17 |
75,581,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4002:Ltbp1
|
UTSW |
17 |
75,617,154 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4057:Ltbp1
|
UTSW |
17 |
75,617,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Ltbp1
|
UTSW |
17 |
75,598,362 (GRCm39) |
nonsense |
probably null |
|
|
R4375:Ltbp1
|
UTSW |
17 |
75,619,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Ltbp1
|
UTSW |
17 |
75,583,502 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4519:Ltbp1
|
UTSW |
17 |
75,671,492 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4529:Ltbp1
|
UTSW |
17 |
75,458,355 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4614:Ltbp1
|
UTSW |
17 |
75,596,989 (GRCm39) |
intron |
probably benign |
|
|
R4724:Ltbp1
|
UTSW |
17 |
75,620,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Ltbp1
|
UTSW |
17 |
75,532,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Ltbp1
|
UTSW |
17 |
75,312,899 (GRCm39) |
missense |
probably benign |
|
|
R4910:Ltbp1
|
UTSW |
17 |
75,634,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Ltbp1
|
UTSW |
17 |
75,628,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5011:Ltbp1
|
UTSW |
17 |
75,373,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5047:Ltbp1
|
UTSW |
17 |
75,599,881 (GRCm39) |
splice site |
probably benign |
|
|
R5259:Ltbp1
|
UTSW |
17 |
75,670,357 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5438:Ltbp1
|
UTSW |
17 |
75,598,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5583:Ltbp1
|
UTSW |
17 |
75,598,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5757:Ltbp1
|
UTSW |
17 |
75,580,944 (GRCm39) |
splice site |
probably null |
|
|
R5950:Ltbp1
|
UTSW |
17 |
75,580,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Ltbp1
|
UTSW |
17 |
75,597,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Ltbp1
|
UTSW |
17 |
75,312,984 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6383:Ltbp1
|
UTSW |
17 |
75,666,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6400:Ltbp1
|
UTSW |
17 |
75,458,397 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6861:Ltbp1
|
UTSW |
17 |
75,534,187 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6880:Ltbp1
|
UTSW |
17 |
75,628,044 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7168:Ltbp1
|
UTSW |
17 |
75,598,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Ltbp1
|
UTSW |
17 |
75,533,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7260:Ltbp1
|
UTSW |
17 |
75,373,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7262:Ltbp1
|
UTSW |
17 |
75,671,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Ltbp1
|
UTSW |
17 |
75,634,223 (GRCm39) |
nonsense |
probably null |
|
|
R7443:Ltbp1
|
UTSW |
17 |
75,671,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Ltbp1
|
UTSW |
17 |
75,659,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7676:Ltbp1
|
UTSW |
17 |
75,598,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7717:Ltbp1
|
UTSW |
17 |
75,597,073 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7720:Ltbp1
|
UTSW |
17 |
75,692,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Ltbp1
|
UTSW |
17 |
75,559,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7944:Ltbp1
|
UTSW |
17 |
75,697,546 (GRCm39) |
makesense |
probably null |
|
|
R7945:Ltbp1
|
UTSW |
17 |
75,697,546 (GRCm39) |
makesense |
probably null |
|
|
R7976:Ltbp1
|
UTSW |
17 |
75,670,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8256:Ltbp1
|
UTSW |
17 |
75,622,236 (GRCm39) |
intron |
probably benign |
|
|
R8295:Ltbp1
|
UTSW |
17 |
75,486,184 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8423:Ltbp1
|
UTSW |
17 |
75,599,852 (GRCm39) |
missense |
probably benign |
|
|
R8462:Ltbp1
|
UTSW |
17 |
75,620,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Ltbp1
|
UTSW |
17 |
75,655,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8742:Ltbp1
|
UTSW |
17 |
75,617,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8766:Ltbp1
|
UTSW |
17 |
75,603,250 (GRCm39) |
nonsense |
probably null |
|
|
R8873:Ltbp1
|
UTSW |
17 |
75,486,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Ltbp1
|
UTSW |
17 |
75,486,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Ltbp1
|
UTSW |
17 |
75,622,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9100:Ltbp1
|
UTSW |
17 |
75,622,102 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9141:Ltbp1
|
UTSW |
17 |
75,598,309 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9204:Ltbp1
|
UTSW |
17 |
75,670,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Ltbp1
|
UTSW |
17 |
75,583,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Ltbp1
|
UTSW |
17 |
75,696,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Ltbp1
|
UTSW |
17 |
75,597,112 (GRCm39) |
missense |
probably benign |
|
|
R9426:Ltbp1
|
UTSW |
17 |
75,598,309 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9448:Ltbp1
|
UTSW |
17 |
75,666,455 (GRCm39) |
nonsense |
probably null |
|
|
R9519:Ltbp1
|
UTSW |
17 |
75,692,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Ltbp1
|
UTSW |
17 |
75,697,498 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9625:Ltbp1
|
UTSW |
17 |
75,486,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Ltbp1
|
UTSW |
17 |
75,603,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0001:Ltbp1
|
UTSW |
17 |
75,534,173 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTGTTCTTGTTCATGCCAGAAG -3'
(R):5'- CAGTGGCTGGTTCACTGTAGACAC -3'
Sequencing Primer
(F):5'- GTCACTTAACCTTTGGGAAACTAACC -3'
(R):5'- CTGGTTCACTGTAGACACATAGG -3'
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| Posted On |
2014-05-14 |
Incidental Mutation