Incidental Mutation 'R6146:Ltbp4'
| ID |
488875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltbp4
|
| Ensembl Gene |
ENSMUSG00000040488 |
| Gene Name |
latent transforming growth factor beta binding protein 4 |
| Synonyms |
2310046A13Rik |
| MMRRC Submission |
044293-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27004561-27037117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27019149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 992
(I992F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038618]
[ENSMUST00000108369]
[ENSMUST00000118583]
[ENSMUST00000118961]
[ENSMUST00000121175]
|
| AlphaFold |
Q8K4G1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038618
AA Change: I1058F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488
AA Change: I1058F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
125 |
N/A |
INTRINSIC |
|
EGF
|
151 |
180 |
2.74e-3 |
SMART |
|
low complexity region
|
244 |
265 |
N/A |
INTRINSIC |
|
EGF_CA
|
356 |
396 |
3.51e-10 |
SMART |
|
Pfam:TB
|
416 |
457 |
4.8e-15 |
PFAM |
|
low complexity region
|
490 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
590 |
N/A |
INTRINSIC |
|
EGF
|
591 |
629 |
6.06e-5 |
SMART |
|
EGF_CA
|
630 |
671 |
8.3e-12 |
SMART |
|
EGF_CA
|
672 |
713 |
7.34e-13 |
SMART |
|
EGF_CA
|
714 |
751 |
8.43e-13 |
SMART |
|
EGF_CA
|
753 |
794 |
1.66e-11 |
SMART |
|
EGF_CA
|
795 |
836 |
3.61e-12 |
SMART |
|
EGF_CA
|
837 |
876 |
5.61e-9 |
SMART |
|
EGF_CA
|
877 |
919 |
1.73e-9 |
SMART |
|
EGF_CA
|
920 |
961 |
7.12e-11 |
SMART |
|
EGF_CA
|
962 |
1002 |
3.56e-11 |
SMART |
|
EGF_CA
|
1003 |
1046 |
1.61e-9 |
SMART |
|
EGF_CA
|
1047 |
1090 |
2.13e-9 |
SMART |
|
EGF_CA
|
1091 |
1132 |
1.02e-11 |
SMART |
|
EGF
|
1136 |
1175 |
1.69e1 |
SMART |
|
low complexity region
|
1185 |
1223 |
N/A |
INTRINSIC |
|
Pfam:TB
|
1234 |
1276 |
1.7e-13 |
PFAM |
|
EGF_CA
|
1295 |
1337 |
2.72e-7 |
SMART |
|
EGF_CA
|
1338 |
1379 |
1.36e-7 |
SMART |
|
Pfam:TB
|
1402 |
1443 |
4.3e-14 |
PFAM |
|
low complexity region
|
1449 |
1461 |
N/A |
INTRINSIC |
|
low complexity region
|
1478 |
1500 |
N/A |
INTRINSIC |
|
EGF
|
1578 |
1615 |
6.06e-5 |
SMART |
|
EGF_CA
|
1616 |
1660 |
9.54e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108369
AA Change: I1057F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488
AA Change: I1057F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
145 |
N/A |
INTRINSIC |
|
EGF
|
150 |
179 |
2.74e-3 |
SMART |
|
low complexity region
|
243 |
264 |
N/A |
INTRINSIC |
|
EGF_CA
|
355 |
395 |
3.51e-10 |
SMART |
|
Pfam:TB
|
414 |
456 |
2.5e-14 |
PFAM |
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
589 |
N/A |
INTRINSIC |
|
EGF
|
590 |
628 |
6.06e-5 |
SMART |
|
EGF_CA
|
629 |
670 |
8.3e-12 |
SMART |
|
EGF_CA
|
671 |
712 |
7.34e-13 |
SMART |
|
EGF_CA
|
713 |
750 |
8.43e-13 |
SMART |
|
EGF_CA
|
752 |
793 |
1.66e-11 |
SMART |
|
EGF_CA
|
794 |
835 |
3.61e-12 |
SMART |
|
EGF_CA
|
836 |
875 |
5.61e-9 |
SMART |
|
EGF_CA
|
876 |
918 |
1.73e-9 |
SMART |
|
EGF_CA
|
919 |
960 |
7.12e-11 |
SMART |
|
EGF_CA
|
961 |
1001 |
3.56e-11 |
SMART |
|
EGF_CA
|
1002 |
1045 |
1.61e-9 |
SMART |
|
EGF_CA
|
1046 |
1089 |
2.13e-9 |
SMART |
|
EGF_CA
|
1090 |
1131 |
1.02e-11 |
SMART |
|
EGF
|
1135 |
1174 |
1.69e1 |
SMART |
|
low complexity region
|
1184 |
1222 |
N/A |
INTRINSIC |
|
Pfam:TB
|
1232 |
1275 |
2.4e-13 |
PFAM |
|
EGF_CA
|
1294 |
1336 |
2.72e-7 |
SMART |
|
EGF_CA
|
1337 |
1378 |
1.36e-7 |
SMART |
|
Pfam:TB
|
1400 |
1442 |
7.6e-15 |
PFAM |
|
low complexity region
|
1448 |
1460 |
N/A |
INTRINSIC |
|
low complexity region
|
1477 |
1499 |
N/A |
INTRINSIC |
|
EGF
|
1577 |
1614 |
6.06e-5 |
SMART |
|
EGF_CA
|
1615 |
1659 |
9.54e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118583
AA Change: I992F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113523
Gene: ENSMUSG00000040488
AA Change: I992F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
EGF
|
85 |
114 |
2.74e-3 |
SMART |
|
low complexity region
|
178 |
199 |
N/A |
INTRINSIC |
|
EGF_CA
|
290 |
330 |
3.51e-10 |
SMART |
|
Pfam:TB
|
349 |
391 |
2.3e-14 |
PFAM |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
EGF
|
525 |
563 |
6.06e-5 |
SMART |
|
EGF_CA
|
564 |
605 |
8.3e-12 |
SMART |
|
EGF_CA
|
606 |
647 |
7.34e-13 |
SMART |
|
EGF_CA
|
648 |
685 |
8.43e-13 |
SMART |
|
EGF_CA
|
687 |
728 |
1.66e-11 |
SMART |
|
EGF_CA
|
729 |
770 |
3.61e-12 |
SMART |
|
EGF_CA
|
771 |
810 |
5.61e-9 |
SMART |
|
EGF_CA
|
811 |
853 |
1.73e-9 |
SMART |
|
EGF_CA
|
854 |
895 |
7.12e-11 |
SMART |
|
EGF_CA
|
896 |
936 |
3.56e-11 |
SMART |
|
EGF_CA
|
937 |
980 |
1.61e-9 |
SMART |
|
EGF_CA
|
981 |
1024 |
2.13e-9 |
SMART |
|
EGF_CA
|
1025 |
1066 |
1.02e-11 |
SMART |
|
EGF
|
1070 |
1109 |
1.69e1 |
SMART |
|
low complexity region
|
1119 |
1157 |
N/A |
INTRINSIC |
|
Pfam:TB
|
1167 |
1210 |
2.2e-13 |
PFAM |
|
EGF_CA
|
1229 |
1271 |
2.72e-7 |
SMART |
|
EGF_CA
|
1272 |
1313 |
1.36e-7 |
SMART |
|
Pfam:TB
|
1335 |
1377 |
7.1e-15 |
PFAM |
|
low complexity region
|
1383 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1412 |
1434 |
N/A |
INTRINSIC |
|
EGF
|
1512 |
1549 |
6.06e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118961
AA Change: I992F
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113746
Gene: ENSMUSG00000040488
AA Change: I992F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
EGF
|
85 |
114 |
2.74e-3 |
SMART |
|
low complexity region
|
178 |
199 |
N/A |
INTRINSIC |
|
EGF_CA
|
290 |
330 |
3.51e-10 |
SMART |
|
Pfam:TB
|
349 |
391 |
1.6e-14 |
PFAM |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
EGF
|
525 |
563 |
6.06e-5 |
SMART |
|
EGF_CA
|
564 |
605 |
8.3e-12 |
SMART |
|
EGF_CA
|
606 |
647 |
7.34e-13 |
SMART |
|
EGF_CA
|
648 |
685 |
8.43e-13 |
SMART |
|
EGF_CA
|
687 |
728 |
1.66e-11 |
SMART |
|
EGF_CA
|
729 |
770 |
3.61e-12 |
SMART |
|
EGF_CA
|
771 |
810 |
5.61e-9 |
SMART |
|
EGF_CA
|
811 |
853 |
1.73e-9 |
SMART |
|
EGF_CA
|
854 |
895 |
7.12e-11 |
SMART |
|
EGF_CA
|
896 |
936 |
3.56e-11 |
SMART |
|
EGF_CA
|
937 |
980 |
1.61e-9 |
SMART |
|
EGF_CA
|
981 |
1024 |
2.13e-9 |
SMART |
|
EGF_CA
|
1025 |
1066 |
1.02e-11 |
SMART |
|
EGF
|
1070 |
1109 |
1.69e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121175
AA Change: I992F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113674
Gene: ENSMUSG00000040488
AA Change: I992F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
EGF
|
85 |
114 |
2.74e-3 |
SMART |
|
low complexity region
|
178 |
199 |
N/A |
INTRINSIC |
|
EGF_CA
|
290 |
330 |
3.51e-10 |
SMART |
|
Pfam:TB
|
349 |
391 |
3.4e-14 |
PFAM |
|
low complexity region
|
424 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
EGF
|
525 |
563 |
6.06e-5 |
SMART |
|
EGF_CA
|
564 |
605 |
8.3e-12 |
SMART |
|
EGF_CA
|
606 |
647 |
7.34e-13 |
SMART |
|
EGF_CA
|
648 |
685 |
8.43e-13 |
SMART |
|
EGF_CA
|
687 |
728 |
1.66e-11 |
SMART |
|
EGF_CA
|
729 |
770 |
3.61e-12 |
SMART |
|
EGF_CA
|
771 |
810 |
5.61e-9 |
SMART |
|
EGF_CA
|
811 |
853 |
1.73e-9 |
SMART |
|
EGF_CA
|
854 |
895 |
7.12e-11 |
SMART |
|
EGF_CA
|
896 |
936 |
3.56e-11 |
SMART |
|
EGF_CA
|
937 |
980 |
1.61e-9 |
SMART |
|
EGF_CA
|
981 |
1024 |
2.13e-9 |
SMART |
|
EGF_CA
|
1025 |
1066 |
1.02e-11 |
SMART |
|
EGF
|
1070 |
1109 |
1.69e1 |
SMART |
|
low complexity region
|
1119 |
1157 |
N/A |
INTRINSIC |
|
Pfam:TB
|
1167 |
1210 |
3.3e-13 |
PFAM |
|
EGF_CA
|
1229 |
1271 |
2.72e-7 |
SMART |
|
EGF_CA
|
1272 |
1313 |
1.36e-7 |
SMART |
|
Pfam:TB
|
1335 |
1377 |
1e-14 |
PFAM |
|
low complexity region
|
1383 |
1395 |
N/A |
INTRINSIC |
|
low complexity region
|
1412 |
1434 |
N/A |
INTRINSIC |
|
EGF
|
1512 |
1549 |
6.06e-5 |
SMART |
|
EGF_CA
|
1550 |
1594 |
9.54e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206413
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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 binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
| AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
| Cgn |
G |
T |
3: 94,674,435 (GRCm39) |
Q901K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
| Cluh |
G |
T |
11: 74,558,054 (GRCm39) |
|
probably null |
Het |
| Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,126,075 (GRCm39) |
E569G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
| Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
| Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
| Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
| Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
| Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
| Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
| Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
| Setd5 |
T |
C |
6: 113,098,773 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,180,534 (GRCm39) |
M623L |
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
| Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
| Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
| Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
| Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
| Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
| Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
| Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
probably null |
Het |
|
| Other mutations in Ltbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Ltbp4
|
APN |
7 |
27,028,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00585:Ltbp4
|
APN |
7 |
27,026,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01320:Ltbp4
|
APN |
7 |
27,027,784 (GRCm39) |
splice site |
probably benign |
|
|
IGL01860:Ltbp4
|
APN |
7 |
27,019,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02026:Ltbp4
|
APN |
7 |
27,026,842 (GRCm39) |
nonsense |
probably null |
|
|
IGL02226:Ltbp4
|
APN |
7 |
27,006,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02422:Ltbp4
|
APN |
7 |
27,019,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02611:Ltbp4
|
APN |
7 |
27,010,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Ltbp4
|
APN |
7 |
27,010,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Ltbp4
|
APN |
7 |
27,028,297 (GRCm39) |
splice site |
probably null |
|
|
IGL02950:Ltbp4
|
APN |
7 |
27,006,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03008:Ltbp4
|
APN |
7 |
27,023,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03271:Ltbp4
|
APN |
7 |
27,029,240 (GRCm39) |
missense |
unknown |
|
|
IGL02837:Ltbp4
|
UTSW |
7 |
27,013,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Ltbp4
|
UTSW |
7 |
27,024,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Ltbp4
|
UTSW |
7 |
27,023,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Ltbp4
|
UTSW |
7 |
27,005,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Ltbp4
|
UTSW |
7 |
27,009,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Ltbp4
|
UTSW |
7 |
27,009,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Ltbp4
|
UTSW |
7 |
27,009,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Ltbp4
|
UTSW |
7 |
27,028,464 (GRCm39) |
missense |
unknown |
|
|
R1403:Ltbp4
|
UTSW |
7 |
27,028,464 (GRCm39) |
missense |
unknown |
|
|
R1448:Ltbp4
|
UTSW |
7 |
27,006,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1575:Ltbp4
|
UTSW |
7 |
27,022,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Ltbp4
|
UTSW |
7 |
27,036,994 (GRCm39) |
unclassified |
probably benign |
|
|
R1932:Ltbp4
|
UTSW |
7 |
27,007,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1959:Ltbp4
|
UTSW |
7 |
27,028,443 (GRCm39) |
missense |
unknown |
|
|
R1960:Ltbp4
|
UTSW |
7 |
27,028,443 (GRCm39) |
missense |
unknown |
|
|
R1976:Ltbp4
|
UTSW |
7 |
27,026,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Ltbp4
|
UTSW |
7 |
27,008,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2333:Ltbp4
|
UTSW |
7 |
27,027,203 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2431:Ltbp4
|
UTSW |
7 |
27,019,101 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3125:Ltbp4
|
UTSW |
7 |
27,027,203 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4093:Ltbp4
|
UTSW |
7 |
27,024,641 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4095:Ltbp4
|
UTSW |
7 |
27,024,641 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4592:Ltbp4
|
UTSW |
7 |
27,024,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4610:Ltbp4
|
UTSW |
7 |
27,006,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Ltbp4
|
UTSW |
7 |
27,013,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Ltbp4
|
UTSW |
7 |
27,005,541 (GRCm39) |
nonsense |
probably null |
|
|
R5002:Ltbp4
|
UTSW |
7 |
27,027,110 (GRCm39) |
frame shift |
probably null |
|
|
R5016:Ltbp4
|
UTSW |
7 |
27,027,110 (GRCm39) |
frame shift |
probably null |
|
|
R5216:Ltbp4
|
UTSW |
7 |
27,026,736 (GRCm39) |
small deletion |
probably benign |
|
|
R5218:Ltbp4
|
UTSW |
7 |
27,026,736 (GRCm39) |
small deletion |
probably benign |
|
|
R5219:Ltbp4
|
UTSW |
7 |
27,026,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5219:Ltbp4
|
UTSW |
7 |
27,026,736 (GRCm39) |
small deletion |
probably benign |
|
|
R5539:Ltbp4
|
UTSW |
7 |
27,027,149 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5991:Ltbp4
|
UTSW |
7 |
27,008,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Ltbp4
|
UTSW |
7 |
27,035,105 (GRCm39) |
unclassified |
probably benign |
|
|
R6125:Ltbp4
|
UTSW |
7 |
27,027,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Ltbp4
|
UTSW |
7 |
27,029,587 (GRCm39) |
missense |
unknown |
|
|
R6414:Ltbp4
|
UTSW |
7 |
27,010,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Ltbp4
|
UTSW |
7 |
27,008,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6719:Ltbp4
|
UTSW |
7 |
27,028,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6940:Ltbp4
|
UTSW |
7 |
27,008,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Ltbp4
|
UTSW |
7 |
27,007,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7116:Ltbp4
|
UTSW |
7 |
27,004,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7326:Ltbp4
|
UTSW |
7 |
27,029,180 (GRCm39) |
missense |
unknown |
|
|
R7419:Ltbp4
|
UTSW |
7 |
27,029,192 (GRCm39) |
missense |
unknown |
|
|
R8068:Ltbp4
|
UTSW |
7 |
27,023,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8435:Ltbp4
|
UTSW |
7 |
27,034,870 (GRCm39) |
missense |
unknown |
|
|
R8543:Ltbp4
|
UTSW |
7 |
27,024,666 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8897:Ltbp4
|
UTSW |
7 |
27,026,119 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9103:Ltbp4
|
UTSW |
7 |
27,028,186 (GRCm39) |
missense |
unknown |
|
|
R9131:Ltbp4
|
UTSW |
7 |
27,036,976 (GRCm39) |
missense |
unknown |
|
|
R9206:Ltbp4
|
UTSW |
7 |
27,022,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Ltbp4
|
UTSW |
7 |
27,021,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9302:Ltbp4
|
UTSW |
7 |
27,008,481 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
X0025:Ltbp4
|
UTSW |
7 |
27,025,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ltbp4
|
UTSW |
7 |
27,005,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Ltbp4
|
UTSW |
7 |
27,007,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGCCGTTTCAATAAGGTC -3'
(R):5'- AGAGGGCTAGACTTTGATATGTC -3'
Sequencing Primer
(F):5'- CAGGCCGTTTCAATAAGGTCATGTC -3'
(R):5'- ACCCTGTTTGAGAAACGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation