Incidental Mutation 'IGL02529:Krt9'
ID |
297237 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt9
|
Ensembl Gene |
ENSMUSG00000051617 |
Gene Name |
keratin 9 |
Synonyms |
K9, Krt1-9 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02529
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 100080792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 353
(H353Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
AlphaFold |
Q6RHW0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059707
AA Change: H353Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000055255 Gene: ENSMUSG00000051617 AA Change: H353Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
125 |
N/A |
INTRINSIC |
Filament
|
130 |
442 |
2.96e-124 |
SMART |
low complexity region
|
462 |
716 |
N/A |
INTRINSIC |
low complexity region
|
721 |
737 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
Het |
|
Other mutations in Krt9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00725:Krt9
|
APN |
11 |
100,080,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01695:Krt9
|
APN |
11 |
100,082,263 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02383:Krt9
|
APN |
11 |
100,082,041 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02819:Krt9
|
APN |
11 |
100,082,346 (GRCm39) |
missense |
probably damaging |
1.00 |
droplet
|
UTSW |
11 |
100,081,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944_Krt9_487
|
UTSW |
11 |
100,079,265 (GRCm39) |
missense |
unknown |
|
G1citation:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R1356:Krt9
|
UTSW |
11 |
100,079,640 (GRCm39) |
small insertion |
probably benign |
|
R1397:Krt9
|
UTSW |
11 |
100,083,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Krt9
|
UTSW |
11 |
100,079,195 (GRCm39) |
nonsense |
probably null |
|
R1772:Krt9
|
UTSW |
11 |
100,082,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1871:Krt9
|
UTSW |
11 |
100,081,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Krt9
|
UTSW |
11 |
100,079,523 (GRCm39) |
missense |
unknown |
|
R1985:Krt9
|
UTSW |
11 |
100,080,817 (GRCm39) |
missense |
probably benign |
0.02 |
R2056:Krt9
|
UTSW |
11 |
100,082,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R2253:Krt9
|
UTSW |
11 |
100,081,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2305:Krt9
|
UTSW |
11 |
100,083,942 (GRCm39) |
missense |
unknown |
|
R2875:Krt9
|
UTSW |
11 |
100,080,031 (GRCm39) |
nonsense |
probably null |
|
R3813:Krt9
|
UTSW |
11 |
100,080,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Krt9
|
UTSW |
11 |
100,081,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4157:Krt9
|
UTSW |
11 |
100,079,475 (GRCm39) |
missense |
unknown |
|
R4762:Krt9
|
UTSW |
11 |
100,081,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Krt9
|
UTSW |
11 |
100,080,863 (GRCm39) |
missense |
probably benign |
0.06 |
R4875:Krt9
|
UTSW |
11 |
100,080,863 (GRCm39) |
missense |
probably benign |
0.06 |
R4923:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R4973:Krt9
|
UTSW |
11 |
100,079,538 (GRCm39) |
missense |
unknown |
|
R5153:Krt9
|
UTSW |
11 |
100,082,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R5658:Krt9
|
UTSW |
11 |
100,081,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R5696:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R5944:Krt9
|
UTSW |
11 |
100,079,265 (GRCm39) |
missense |
unknown |
|
R6147:Krt9
|
UTSW |
11 |
100,079,665 (GRCm39) |
missense |
unknown |
|
R6403:Krt9
|
UTSW |
11 |
100,080,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R6476:Krt9
|
UTSW |
11 |
100,081,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7159:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7174:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7203:Krt9
|
UTSW |
11 |
100,081,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7805:Krt9
|
UTSW |
11 |
100,083,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7817:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7822:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7834:Krt9
|
UTSW |
11 |
100,083,492 (GRCm39) |
missense |
probably benign |
0.06 |
R7947:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R7977:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R8943:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9092:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9099:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9203:Krt9
|
UTSW |
11 |
100,079,734 (GRCm39) |
missense |
unknown |
|
R9313:Krt9
|
UTSW |
11 |
100,079,547 (GRCm39) |
missense |
unknown |
|
R9361:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9370:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9438:Krt9
|
UTSW |
11 |
100,079,824 (GRCm39) |
missense |
unknown |
|
R9448:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9455:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9620:Krt9
|
UTSW |
11 |
100,079,186 (GRCm39) |
missense |
unknown |
|
R9676:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
R9719:Krt9
|
UTSW |
11 |
100,079,903 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2015-04-16 |