Incidental Mutation 'R6476:Krt9'
| ID |
516804 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100081640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 296
(D296E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059707
AA Change: D296E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: D296E
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
T |
C |
2: 154,892,699 (GRCm39) |
V126A |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,259,691 (GRCm39) |
Q336R |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,578,753 (GRCm39) |
T6A |
probably benign |
Het |
| Arhgap33 |
A |
G |
7: 30,223,837 (GRCm39) |
S731P |
probably damaging |
Het |
| Arhgef10l |
G |
C |
4: 140,338,693 (GRCm39) |
P23R |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,502,147 (GRCm39) |
D3G |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,011,465 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,715 (GRCm39) |
I191N |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,607,917 (GRCm39) |
S180T |
possibly damaging |
Het |
| Chd1 |
G |
A |
17: 17,601,250 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,709,534 (GRCm39) |
N1887K |
unknown |
Het |
| Csgalnact1 |
C |
T |
8: 68,913,761 (GRCm39) |
S148N |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,913,762 (GRCm39) |
S148C |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,572,333 (GRCm39) |
E2888G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,281,364 (GRCm39) |
Y2808* |
probably null |
Het |
| Dock10 |
A |
C |
1: 80,518,959 (GRCm39) |
L1254* |
probably null |
Het |
| Eml2 |
T |
C |
7: 18,930,236 (GRCm39) |
V511A |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,741,971 (GRCm39) |
|
probably null |
Het |
| Erbin |
C |
A |
13: 103,977,755 (GRCm39) |
D601Y |
probably damaging |
Het |
| Farsa |
A |
G |
8: 85,583,809 (GRCm39) |
E49G |
probably damaging |
Het |
| Fzd7 |
A |
G |
1: 59,523,154 (GRCm39) |
M346V |
probably damaging |
Het |
| Gatd3a |
T |
C |
10: 78,003,347 (GRCm39) |
N102D |
probably damaging |
Het |
| Glg1 |
A |
C |
8: 111,926,806 (GRCm39) |
S170A |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,798,025 (GRCm39) |
I54F |
probably damaging |
Het |
| H6pd |
G |
A |
4: 150,067,184 (GRCm39) |
H401Y |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,560,457 (GRCm39) |
S28P |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,571,518 (GRCm39) |
T237I |
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,768,541 (GRCm39) |
V349A |
possibly damaging |
Het |
| Map3k6 |
A |
T |
4: 132,977,397 (GRCm39) |
S915C |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,034,717 (GRCm39) |
A510S |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,167,686 (GRCm39) |
I224T |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,251,056 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
A |
3: 55,912,227 (GRCm39) |
T1187S |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,138,154 (GRCm39) |
T444A |
possibly damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,657 (GRCm39) |
L200P |
possibly damaging |
Het |
| Npc1 |
G |
T |
18: 12,334,751 (GRCm39) |
S667* |
probably null |
Het |
| Nscme3l |
A |
C |
19: 5,553,253 (GRCm39) |
I176S |
probably damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,218 (GRCm39) |
V212I |
probably benign |
Het |
| Or1l8 |
T |
A |
2: 36,817,595 (GRCm39) |
H177L |
possibly damaging |
Het |
| Or4c109 |
T |
A |
2: 88,817,721 (GRCm39) |
D275V |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,310 (GRCm39) |
N288K |
possibly damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,928 (GRCm39) |
Y60N |
probably damaging |
Het |
| Pds5a |
A |
C |
5: 65,791,630 (GRCm39) |
I773R |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,964,839 (GRCm39) |
|
probably null |
Het |
| Plscr4 |
A |
T |
9: 92,372,819 (GRCm39) |
M314L |
probably benign |
Het |
| Polr2m |
A |
G |
9: 71,390,752 (GRCm39) |
V46A |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,424,923 (GRCm39) |
M174L |
possibly damaging |
Het |
| Sec31a |
A |
T |
5: 100,534,008 (GRCm39) |
F521I |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,011,071 (GRCm39) |
N47S |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,971 (GRCm39) |
S312G |
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,448,750 (GRCm39) |
D431E |
probably benign |
Het |
| Slc34a1 |
C |
A |
13: 23,996,569 (GRCm39) |
H25N |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,191 (GRCm39) |
F87L |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,065,456 (GRCm39) |
S54T |
possibly damaging |
Het |
| Spata6 |
T |
C |
4: 111,632,020 (GRCm39) |
S144P |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,077,595 (GRCm39) |
N132D |
probably benign |
Het |
| Ssu2 |
C |
T |
6: 112,351,793 (GRCm39) |
G311S |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,104,531 (GRCm39) |
Q6328L |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,330,062 (GRCm39) |
T1054A |
possibly damaging |
Het |
| Tnfaip6 |
T |
G |
2: 51,942,328 (GRCm39) |
D212E |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,909,166 (GRCm39) |
T1442A |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,546,244 (GRCm39) |
T337M |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,498,489 (GRCm39) |
V413A |
probably benign |
Het |
| Vmn1r19 |
C |
G |
6: 57,381,578 (GRCm39) |
Q44E |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,097,246 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp266 |
G |
T |
9: 20,410,577 (GRCm39) |
H533Q |
probably damaging |
Het |
| Zfp689 |
T |
C |
7: 127,043,896 (GRCm39) |
S245G |
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 |
|
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 |
|
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 |
|
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'- ACACAGCATCCATTGGAGG -3'
(R):5'- TCACAGGTGGCATGCAATGG -3'
Sequencing Primer
(F):5'- CTATGCTGAGAGATGAAGAGGC -3'
(R):5'- CAGCTGTGCTTTGATTTCACAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation