Incidental Mutation 'R9057:Col17a1'
| ID |
688783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col17a1
|
| Ensembl Gene |
ENSMUSG00000025064 |
| Gene Name |
collagen, type XVII, alpha 1 |
| Synonyms |
Bpag2, BP180, BPAg2, Bpag |
| MMRRC Submission |
068883-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47634783-47680460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47637522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1245
(D1245E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000026045]
[ENSMUST00000086923]
|
| AlphaFold |
Q07563 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026043
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
292 |
3.18e-99 |
SMART |
|
low complexity region
|
305 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
795 |
N/A |
INTRINSIC |
|
Pfam:PKK
|
849 |
928 |
1.2e-19 |
PFAM |
|
Pfam:PKK
|
986 |
1127 |
7.4e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026045
AA Change: D1245E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
AA Change: D1245E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
461 |
N/A |
INTRINSIC |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
570 |
631 |
3.2e-10 |
PFAM |
|
low complexity region
|
634 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
693 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
695 |
714 |
1.12e-5 |
PROSPERO |
|
internal_repeat_3
|
695 |
723 |
3.81e-6 |
PROSPERO |
|
internal_repeat_1
|
709 |
735 |
1.93e-9 |
PROSPERO |
|
internal_repeat_4
|
719 |
738 |
1.12e-5 |
PROSPERO |
|
Pfam:Collagen
|
753 |
816 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
825 |
871 |
5.9e-9 |
PFAM |
|
low complexity region
|
889 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1266 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1385 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1408 |
1462 |
3.5e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086923
AA Change: D1208E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
AA Change: D1208E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
461 |
N/A |
INTRINSIC |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
570 |
631 |
3.1e-10 |
PFAM |
|
Pfam:Collagen
|
647 |
726 |
5.2e-7 |
PFAM |
|
Pfam:Collagen
|
699 |
772 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
753 |
816 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
825 |
871 |
5.9e-9 |
PFAM |
|
low complexity region
|
889 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1164 |
1180 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1238 |
1300 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1348 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1371 |
1425 |
3.5e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,782 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
A |
2: 25,331,584 (GRCm39) |
D1324N |
probably benign |
Het |
| Acat1 |
C |
T |
9: 53,503,300 (GRCm39) |
G180R |
probably damaging |
Het |
| AI837181 |
A |
C |
19: 5,476,730 (GRCm39) |
T298P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,586,814 (GRCm39) |
D556E |
unknown |
Het |
| Ankle1 |
T |
A |
8: 71,858,961 (GRCm39) |
W65R |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,203,654 (GRCm39) |
N234S |
probably benign |
Het |
| Asb7 |
T |
A |
7: 66,309,395 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,068,102 (GRCm39) |
C1033* |
probably null |
Het |
| B4galnt1 |
A |
G |
10: 127,006,999 (GRCm39) |
D452G |
probably damaging |
Het |
| B4gat1 |
G |
T |
19: 5,089,056 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,069,807 (GRCm39) |
Y724H |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,306 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Cenpt |
C |
A |
8: 106,576,405 (GRCm39) |
*43L |
probably null |
Het |
| Ces2f |
C |
A |
8: 105,674,744 (GRCm39) |
H49N |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,549,962 (GRCm39) |
H312N |
unknown |
Het |
| Cyb5d2 |
C |
T |
11: 72,679,924 (GRCm39) |
E124K |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,391,014 (GRCm39) |
A3291V |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,779,186 (GRCm39) |
D226E |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,067 (GRCm39) |
T189M |
probably damaging |
Het |
| Gm5592 |
C |
A |
7: 40,938,887 (GRCm39) |
S723Y |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,332,465 (GRCm39) |
T133M |
probably damaging |
Het |
| Heatr5a |
C |
T |
12: 51,986,420 (GRCm39) |
E598K |
probably damaging |
Het |
| Hfe |
T |
A |
13: 23,889,658 (GRCm39) |
I330F |
possibly damaging |
Het |
| Htt |
A |
G |
5: 35,009,454 (GRCm39) |
I1478M |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,833,186 (GRCm39) |
F449L |
probably damaging |
Het |
| Ints4 |
T |
C |
7: 97,158,987 (GRCm39) |
V453A |
possibly damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,740 (GRCm39) |
|
probably null |
Het |
| Klrh1 |
T |
A |
6: 129,752,803 (GRCm39) |
M1L |
probably benign |
Het |
| Kpna4 |
G |
A |
3: 69,002,018 (GRCm39) |
T248M |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,874,977 (GRCm39) |
I372V |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,728 (GRCm39) |
D696E |
possibly damaging |
Het |
| Mpzl3 |
G |
A |
9: 44,979,592 (GRCm39) |
R181Q |
probably damaging |
Het |
| Mup12 |
A |
T |
4: 60,696,779 (GRCm39) |
I33N |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,656,011 (GRCm39) |
I502V |
possibly damaging |
Het |
| Nacad |
C |
A |
11: 6,550,876 (GRCm39) |
V772F |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,456,218 (GRCm39) |
T2417N |
probably benign |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Or2ag17 |
A |
T |
7: 106,389,296 (GRCm39) |
V304D |
probably damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,148 (GRCm39) |
E68G |
probably damaging |
Het |
| Pan2 |
A |
T |
10: 128,156,141 (GRCm39) |
H1133L |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,735 (GRCm39) |
V231A |
possibly damaging |
Het |
| Psmd12 |
G |
A |
11: 107,377,328 (GRCm39) |
R129Q |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,072,021 (GRCm39) |
R139C |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,446,246 (GRCm39) |
Q158H |
|
Het |
| Scd3 |
C |
T |
19: 44,224,340 (GRCm39) |
P191L |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,111,890 (GRCm39) |
S262I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,794,209 (GRCm39) |
T526A |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,520,958 (GRCm39) |
T721S |
probably benign |
Het |
| Slc8a1 |
A |
C |
17: 81,955,479 (GRCm39) |
S520A |
probably benign |
Het |
| Sp9 |
A |
T |
2: 73,103,613 (GRCm39) |
S56C |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,095,547 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,167 (GRCm39) |
L255R |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,026 (GRCm39) |
I156T |
probably damaging |
Het |
| Tnrc6b |
G |
A |
15: 80,763,349 (GRCm39) |
A284T |
probably benign |
Het |
| Trappc14 |
A |
T |
5: 138,260,949 (GRCm39) |
V232E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,575,874 (GRCm39) |
L919H |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,828,209 (GRCm39) |
H1454Q |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,027,702 (GRCm39) |
D537E |
probably benign |
Het |
| Wnt16 |
T |
A |
6: 22,288,823 (GRCm39) |
C47S |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,310,027 (GRCm39) |
E840K |
possibly damaging |
Het |
| Zfp61 |
A |
T |
7: 23,990,702 (GRCm39) |
V483E |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,793 (GRCm39) |
S179T |
probably benign |
Het |
|
| Other mutations in Col17a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Col17a1
|
APN |
19 |
47,669,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Col17a1
|
APN |
19 |
47,656,978 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02149:Col17a1
|
APN |
19 |
47,657,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02176:Col17a1
|
APN |
19 |
47,639,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03352:Col17a1
|
APN |
19 |
47,669,814 (GRCm39) |
splice site |
probably null |
|
|
IGL03409:Col17a1
|
APN |
19 |
47,654,979 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
fleabitten
|
UTSW |
19 |
47,656,544 (GRCm39) |
nonsense |
probably null |
|
|
idaho
|
UTSW |
19 |
47,667,861 (GRCm39) |
nonsense |
probably null |
|
|
scabby
|
UTSW |
19 |
47,668,847 (GRCm39) |
nonsense |
probably null |
|
|
testimony
|
UTSW |
19 |
47,643,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03050:Col17a1
|
UTSW |
19 |
47,636,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Col17a1
|
UTSW |
19 |
47,659,813 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0309:Col17a1
|
UTSW |
19 |
47,659,801 (GRCm39) |
splice site |
probably benign |
|
|
R0316:Col17a1
|
UTSW |
19 |
47,673,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0330:Col17a1
|
UTSW |
19 |
47,658,871 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0391:Col17a1
|
UTSW |
19 |
47,652,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Col17a1
|
UTSW |
19 |
47,654,317 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0737:Col17a1
|
UTSW |
19 |
47,657,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1344:Col17a1
|
UTSW |
19 |
47,659,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Col17a1
|
UTSW |
19 |
47,659,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Col17a1
|
UTSW |
19 |
47,637,349 (GRCm39) |
unclassified |
probably benign |
|
|
R1585:Col17a1
|
UTSW |
19 |
47,639,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Col17a1
|
UTSW |
19 |
47,659,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Col17a1
|
UTSW |
19 |
47,637,442 (GRCm39) |
unclassified |
probably benign |
|
|
R1800:Col17a1
|
UTSW |
19 |
47,639,301 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2007:Col17a1
|
UTSW |
19 |
47,656,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Col17a1
|
UTSW |
19 |
47,639,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2258:Col17a1
|
UTSW |
19 |
47,669,816 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2268:Col17a1
|
UTSW |
19 |
47,638,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3608:Col17a1
|
UTSW |
19 |
47,668,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4380:Col17a1
|
UTSW |
19 |
47,645,529 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4675:Col17a1
|
UTSW |
19 |
47,651,497 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4928:Col17a1
|
UTSW |
19 |
47,658,897 (GRCm39) |
splice site |
probably null |
|
|
R5058:Col17a1
|
UTSW |
19 |
47,673,989 (GRCm39) |
nonsense |
probably null |
|
|
R5407:Col17a1
|
UTSW |
19 |
47,654,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Col17a1
|
UTSW |
19 |
47,650,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Col17a1
|
UTSW |
19 |
47,639,168 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5889:Col17a1
|
UTSW |
19 |
47,637,511 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5988:Col17a1
|
UTSW |
19 |
47,642,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Col17a1
|
UTSW |
19 |
47,668,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Col17a1
|
UTSW |
19 |
47,641,818 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6432:Col17a1
|
UTSW |
19 |
47,668,847 (GRCm39) |
nonsense |
probably null |
|
|
R6484:Col17a1
|
UTSW |
19 |
47,658,868 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6754:Col17a1
|
UTSW |
19 |
47,639,160 (GRCm39) |
splice site |
probably null |
|
|
R7028:Col17a1
|
UTSW |
19 |
47,640,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7465:Col17a1
|
UTSW |
19 |
47,656,544 (GRCm39) |
nonsense |
probably null |
|
|
R7565:Col17a1
|
UTSW |
19 |
47,659,963 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7662:Col17a1
|
UTSW |
19 |
47,669,940 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7726:Col17a1
|
UTSW |
19 |
47,643,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7957:Col17a1
|
UTSW |
19 |
47,649,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Col17a1
|
UTSW |
19 |
47,640,240 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8720:Col17a1
|
UTSW |
19 |
47,637,531 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8877:Col17a1
|
UTSW |
19 |
47,637,197 (GRCm39) |
missense |
unknown |
|
|
R9017:Col17a1
|
UTSW |
19 |
47,657,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9231:Col17a1
|
UTSW |
19 |
47,667,861 (GRCm39) |
nonsense |
probably null |
|
|
R9714:Col17a1
|
UTSW |
19 |
47,636,634 (GRCm39) |
missense |
unknown |
|
|
Z1088:Col17a1
|
UTSW |
19 |
47,640,617 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Col17a1
|
UTSW |
19 |
47,637,868 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Col17a1
|
UTSW |
19 |
47,638,743 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATATACCACCACCTGCAGCTG -3'
(R):5'- GGTCAGCAGTCTAGATAAACCAC -3'
Sequencing Primer
(F):5'- ATGTCGGTACCATAGGGGC -3'
(R):5'- GCAGTCTAGATAAACCACTCTCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation