Incidental Mutation 'IGL01586:Krt1c'
| ID |
91807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt1c
|
| Ensembl Gene |
|
| Gene Name |
keratin 1 complex |
| Synonyms |
Krt-2, Krt2 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101719825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 615
(G615V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023712
AA Change: G615V
|
| SMART Domains |
Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: G615V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
23 |
195 |
3.6e-26 |
PFAM |
|
Filament
|
198 |
511 |
4.22e-152 |
SMART |
|
low complexity region
|
520 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
701 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
A |
T |
17: 48,439,125 (GRCm39) |
Y144N |
unknown |
Het |
| Abca9 |
A |
C |
11: 110,045,243 (GRCm39) |
C363W |
probably damaging |
Het |
| Acmsd |
G |
A |
1: 127,687,447 (GRCm39) |
R243H |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,970 (GRCm39) |
T490A |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,610,928 (GRCm39) |
D1411G |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,614,638 (GRCm39) |
E842G |
probably benign |
Het |
| Asgr2 |
T |
C |
11: 69,996,193 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,557,293 (GRCm39) |
V14A |
possibly damaging |
Het |
| Cer1 |
A |
G |
4: 82,803,080 (GRCm39) |
S81P |
probably damaging |
Het |
| Cln6 |
T |
A |
9: 62,751,900 (GRCm39) |
H41Q |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,355,106 (GRCm39) |
D334G |
probably damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,578,271 (GRCm39) |
I261T |
probably benign |
Het |
| Fhod3 |
T |
G |
18: 25,223,804 (GRCm39) |
I1050S |
probably damaging |
Het |
| Gbgt1 |
T |
C |
2: 28,387,842 (GRCm39) |
V22A |
probably benign |
Het |
| Izumo3 |
A |
G |
4: 92,034,532 (GRCm39) |
|
probably null |
Het |
| Kif11 |
T |
C |
19: 37,372,681 (GRCm39) |
|
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,477 (GRCm39) |
|
probably benign |
Het |
| Mier1 |
C |
T |
4: 103,012,769 (GRCm39) |
T342I |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,378,305 (GRCm39) |
|
probably null |
Het |
| Nrp1 |
A |
T |
8: 129,158,513 (GRCm39) |
S267C |
possibly damaging |
Het |
| Or8b8 |
A |
G |
9: 37,809,272 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,708,344 (GRCm39) |
M28K |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,747,408 (GRCm39) |
|
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,537,173 (GRCm39) |
E519G |
probably damaging |
Het |
| Samm50 |
T |
A |
15: 84,080,039 (GRCm39) |
I39N |
probably benign |
Het |
| Shc2 |
A |
T |
10: 79,458,138 (GRCm39) |
M515K |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,631 (GRCm39) |
F608L |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,654,172 (GRCm39) |
K727E |
probably damaging |
Het |
| Sox13 |
A |
T |
1: 133,317,182 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,325,495 (GRCm39) |
V165A |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,473,747 (GRCm39) |
T43A |
probably benign |
Het |
| Tyrp1 |
G |
T |
4: 80,763,135 (GRCm39) |
V341L |
probably benign |
Het |
| Ugt2b35 |
C |
A |
5: 87,159,250 (GRCm39) |
H481Q |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,161,476 (GRCm39) |
I290N |
possibly damaging |
Het |
|
| Other mutations in Krt1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01316:Krt1c
|
APN |
15 |
101,719,646 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01568:Krt1c
|
APN |
15 |
101,721,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01667:Krt1c
|
APN |
15 |
101,724,765 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02017:Krt1c
|
APN |
15 |
101,724,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Krt1c
|
APN |
15 |
101,724,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Krt1c
|
APN |
15 |
101,719,589 (GRCm39) |
missense |
unknown |
|
|
IGL02959:Krt1c
|
APN |
15 |
101,719,763 (GRCm39) |
missense |
unknown |
|
|
IGL03295:Krt1c
|
APN |
15 |
101,724,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0195:Krt1c
|
UTSW |
15 |
101,721,626 (GRCm39) |
nonsense |
probably null |
|
|
R0472:Krt1c
|
UTSW |
15 |
101,721,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0749:Krt1c
|
UTSW |
15 |
101,726,098 (GRCm39) |
missense |
unknown |
|
|
R0785:Krt1c
|
UTSW |
15 |
101,726,356 (GRCm39) |
missense |
unknown |
|
|
R0792:Krt1c
|
UTSW |
15 |
101,724,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Krt1c
|
UTSW |
15 |
101,720,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Krt1c
|
UTSW |
15 |
101,721,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Krt1c
|
UTSW |
15 |
101,719,589 (GRCm39) |
missense |
unknown |
|
|
R1783:Krt1c
|
UTSW |
15 |
101,722,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Krt1c
|
UTSW |
15 |
101,724,861 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2283:Krt1c
|
UTSW |
15 |
101,722,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3977:Krt1c
|
UTSW |
15 |
101,719,562 (GRCm39) |
missense |
unknown |
|
|
R4575:Krt1c
|
UTSW |
15 |
101,722,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Krt1c
|
UTSW |
15 |
101,726,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Krt1c
|
UTSW |
15 |
101,726,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Krt1c
|
UTSW |
15 |
101,722,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Krt1c
|
UTSW |
15 |
101,719,979 (GRCm39) |
missense |
unknown |
|
|
R4953:Krt1c
|
UTSW |
15 |
101,722,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Krt1c
|
UTSW |
15 |
101,721,721 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5973:Krt1c
|
UTSW |
15 |
101,724,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6122:Krt1c
|
UTSW |
15 |
101,724,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Krt1c
|
UTSW |
15 |
101,723,479 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6661:Krt1c
|
UTSW |
15 |
101,724,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Krt1c
|
UTSW |
15 |
101,726,314 (GRCm39) |
missense |
unknown |
|
|
R6993:Krt1c
|
UTSW |
15 |
101,724,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Krt1c
|
UTSW |
15 |
101,723,522 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7573:Krt1c
|
UTSW |
15 |
101,722,954 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7947:Krt1c
|
UTSW |
15 |
101,724,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8469:Krt1c
|
UTSW |
15 |
101,724,804 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8805:Krt1c
|
UTSW |
15 |
101,724,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9051:Krt1c
|
UTSW |
15 |
101,726,317 (GRCm39) |
missense |
unknown |
|
|
R9118:Krt1c
|
UTSW |
15 |
101,722,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9230:Krt1c
|
UTSW |
15 |
101,725,948 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9257:Krt1c
|
UTSW |
15 |
101,724,926 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9424:Krt1c
|
UTSW |
15 |
101,719,792 (GRCm39) |
missense |
unknown |
|
|
R9569:Krt1c
|
UTSW |
15 |
101,724,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Krt1c
|
UTSW |
15 |
101,719,792 (GRCm39) |
missense |
unknown |
|
|
RF020:Krt1c
|
UTSW |
15 |
101,726,403 (GRCm39) |
missense |
unknown |
|
|
Z1177:Krt1c
|
UTSW |
15 |
101,719,985 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation