Incidental Mutation 'R4157:Krt9'
| ID |
315592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
K9, Krt1-9 |
| MMRRC Submission |
041000-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4157 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100079475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 639
(Y639F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000059707
AA Change: Y639F
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: Y639F
| 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
95% (52/55) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,070,414 (GRCm39) |
R585L |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,156 (GRCm39) |
R75Q |
probably null |
Het |
| Ankrd26 |
T |
A |
6: 118,484,782 (GRCm39) |
Q1485L |
probably damaging |
Het |
| Apbb2 |
G |
A |
5: 66,459,947 (GRCm39) |
R717* |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,365,591 (GRCm39) |
E735G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| C4b |
A |
G |
17: 34,961,829 (GRCm39) |
I139T |
probably damaging |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,236,259 (GRCm39) |
|
probably benign |
Het |
| Ctif |
T |
C |
18: 75,568,341 (GRCm39) |
H599R |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,110,192 (GRCm39) |
I26T |
possibly damaging |
Het |
| Dnajc4 |
T |
C |
19: 6,967,208 (GRCm39) |
N72S |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Inpp5f |
C |
T |
7: 128,281,423 (GRCm39) |
|
probably benign |
Het |
| Irx4 |
A |
T |
13: 73,413,662 (GRCm39) |
Q44L |
probably benign |
Het |
| Lgals9 |
C |
A |
11: 78,863,933 (GRCm39) |
V71L |
possibly damaging |
Het |
| Mdga1 |
T |
C |
17: 30,052,317 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Nup50l |
C |
G |
6: 96,142,264 (GRCm39) |
W260S |
possibly damaging |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Orm2 |
T |
A |
4: 63,282,222 (GRCm39) |
F133L |
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Pidd1 |
A |
G |
7: 141,021,279 (GRCm39) |
V333A |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,021,878 (GRCm39) |
F341L |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,175 (GRCm39) |
S875T |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx22 |
T |
C |
9: 65,975,493 (GRCm39) |
Y92C |
probably damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Swt1 |
A |
T |
1: 151,278,795 (GRCm39) |
V454E |
probably damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,384,491 (GRCm38) |
N80S |
probably benign |
Het |
| Trim7 |
T |
C |
11: 48,738,920 (GRCm39) |
V313A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,790,013 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,597,729 (GRCm39) |
V121A |
probably benign |
Het |
| Wdr20 |
G |
A |
12: 110,704,608 (GRCm39) |
R49H |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp398 |
A |
T |
6: 47,812,843 (GRCm39) |
T5S |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,257 (GRCm39) |
A367V |
probably benign |
Het |
| Zfp748 |
G |
A |
13: 67,690,225 (GRCm39) |
S345L |
possibly 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 |
|
IGL02529:Krt9
|
APN |
11 |
100,080,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCACTTCCTCCTCCATAGC -3'
(R):5'- TGGAGGAGGAAGCAGCTCT -3'
Sequencing Primer
(F):5'- CCTCCATAGCTGCCTCCAC -3'
(R):5'- CAGCTCTGGGGGAGGAAGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation