Incidental Mutation 'IGL02538:Krt1c'
| ID |
297580 |
| 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 # |
IGL02538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
(GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101719589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 694
(S694P)
|
| 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: S694P
|
| SMART Domains |
Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: S694P
| 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 |
|
| Meta Mutation Damage Score |
0.0831 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,136,949 (GRCm39) |
I171L |
possibly damaging |
Het |
| Amdhd1 |
C |
T |
10: 93,363,108 (GRCm39) |
V327I |
probably damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,092,456 (GRCm39) |
H257R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,307,658 (GRCm39) |
T1531A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,435 (GRCm39) |
S1001P |
unknown |
Het |
| Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,985 (GRCm39) |
N107K |
probably benign |
Het |
| Ceacam10 |
A |
G |
7: 24,477,908 (GRCm39) |
H141R |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,071,445 (GRCm39) |
D73G |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,125,048 (GRCm39) |
Q1536* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,845,261 (GRCm39) |
I418K |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,938,722 (GRCm39) |
|
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,678,523 (GRCm39) |
I110V |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,096 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,246,557 (GRCm39) |
K342N |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,869,047 (GRCm39) |
|
probably benign |
Het |
| Gm8126 |
A |
T |
14: 43,117,047 (GRCm39) |
R63W |
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,049,345 (GRCm39) |
K203E |
probably benign |
Het |
| Iigp1c |
A |
T |
18: 60,378,944 (GRCm39) |
K160* |
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,623,088 (GRCm39) |
M393V |
probably null |
Het |
| Kbtbd11 |
A |
G |
8: 15,078,841 (GRCm39) |
D480G |
probably damaging |
Het |
| Klhl1 |
T |
C |
14: 96,477,649 (GRCm39) |
N473S |
probably benign |
Het |
| Lhfpl6 |
C |
T |
3: 52,950,732 (GRCm39) |
A2V |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,024,279 (GRCm39) |
L354Q |
probably damaging |
Het |
| Luzp2 |
T |
A |
7: 54,861,546 (GRCm39) |
L225* |
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,717,288 (GRCm39) |
Q58* |
probably null |
Het |
| Mmut |
A |
T |
17: 41,249,510 (GRCm39) |
I162F |
probably damaging |
Het |
| Nol11 |
T |
A |
11: 107,064,199 (GRCm39) |
M518L |
probably benign |
Het |
| Nubpl |
T |
C |
12: 52,357,477 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
A |
2: 80,474,563 (GRCm39) |
S93R |
possibly damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,816 (GRCm39) |
|
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Pex3 |
T |
C |
10: 13,411,344 (GRCm39) |
E178G |
possibly damaging |
Het |
| Rad23b |
C |
A |
4: 55,370,457 (GRCm39) |
P161Q |
possibly damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,178,716 (GRCm39) |
S1128P |
probably damaging |
Het |
| Terb2 |
T |
C |
2: 122,035,289 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,603,942 (GRCm39) |
Y96C |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,022,339 (GRCm39) |
D830G |
possibly damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,916 (GRCm39) |
S259P |
probably benign |
Het |
| Usp38 |
A |
T |
8: 81,712,187 (GRCm39) |
L616H |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,125,269 (GRCm39) |
C73S |
probably damaging |
Het |
| Wdr7 |
C |
A |
18: 63,929,306 (GRCm39) |
D1047E |
probably benign |
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 |
|
IGL01586:Krt1c
|
APN |
15 |
101,719,825 (GRCm39) |
missense |
unknown |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation