Incidental Mutation 'R7817:Krt9'
| ID |
601603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
K9, Krt1-9 |
| MMRRC Submission |
045871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7817 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (8 aa in frame mutation) |
| DNA Base Change (assembly) |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC to TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC
at 100079903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059707
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (45/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,224 (GRCm39) |
V338A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bivm |
G |
T |
1: 44,165,561 (GRCm39) |
A4S |
probably benign |
Het |
| Cacng3 |
G |
A |
7: 122,367,822 (GRCm39) |
R234Q |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cftr |
A |
G |
6: 18,267,967 (GRCm39) |
D642G |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,615,949 (GRCm39) |
V443A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,721,356 (GRCm39) |
R1425H |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,442,064 (GRCm39) |
T1588A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,798,206 (GRCm39) |
M207T |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,243 (GRCm39) |
Y322H |
probably damaging |
Het |
| Glud1 |
A |
T |
14: 34,051,244 (GRCm39) |
|
probably null |
Het |
| Gm47189 |
A |
G |
14: 41,492,011 (GRCm39) |
Y89H |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,374,186 (GRCm39) |
M620K |
possibly damaging |
Het |
| Mocs2 |
A |
G |
13: 114,957,382 (GRCm39) |
E62G |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nek10 |
C |
T |
14: 15,001,017 (GRCm38) |
P1066S |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,671,632 (GRCm39) |
K876E |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,279 (GRCm39) |
F182I |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,783,327 (GRCm39) |
G60S |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,014,443 (GRCm39) |
Y666H |
probably damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,355 (GRCm39) |
I247V |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,962 (GRCm39) |
E764G |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,982 (GRCm39) |
D649E |
probably benign |
Het |
| Pde7b |
T |
G |
10: 20,319,051 (GRCm39) |
R90S |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,384,483 (GRCm39) |
V625A |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,779,311 (GRCm39) |
R113W |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,572 (GRCm39) |
V89A |
not run |
Het |
| Rad1 |
T |
C |
15: 10,493,404 (GRCm39) |
V277A |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,435,983 (GRCm39) |
L894Q |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,965,460 (GRCm39) |
C10S |
probably damaging |
Het |
| Ryk |
C |
T |
9: 102,768,432 (GRCm39) |
Q361* |
probably null |
Het |
| Serpina3b |
A |
G |
12: 104,099,223 (GRCm39) |
N246S |
probably benign |
Het |
| Srr |
A |
G |
11: 74,799,524 (GRCm39) |
V317A |
possibly damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,781 (GRCm39) |
C288S |
probably benign |
Het |
| Tomm70a |
C |
T |
16: 56,965,136 (GRCm39) |
A440V |
probably damaging |
Het |
| Trim62 |
T |
C |
4: 128,794,478 (GRCm39) |
V215A |
probably benign |
Het |
| Trio |
C |
G |
15: 27,749,952 (GRCm39) |
V2250L |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13d |
A |
T |
11: 115,967,109 (GRCm39) |
V91D |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,487 (GRCm39) |
I182F |
possibly damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,823 (GRCm39) |
V4D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,815 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,829,741 (GRCm39) |
I755V |
not run |
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 |
|
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 |
|
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'- AGAGCTGCTTCCTCCTCCATAA -3'
(R):5'- GGGATGCCTCAGTTCACACT -3'
Sequencing Primer
(F):5'- TAACCTCCTCCACTTTTTCCACCATG -3'
(R):5'- GGATGCCTCAGTTCACACTTAAGTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation