Incidental Mutation 'R7805:Krt9'
| ID |
600732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt9
|
| Ensembl Gene |
ENSMUSG00000051617 |
| Gene Name |
keratin 9 |
| Synonyms |
K9, Krt1-9 |
| MMRRC Submission |
045860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100077607-100084072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100083522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 170
(R170G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059707]
|
| AlphaFold |
Q6RHW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059707
AA Change: R170G
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617
AA Change: R170G
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,624,128 (GRCm39) |
|
probably null |
Het |
| Aida |
A |
G |
1: 183,085,633 (GRCm39) |
K44R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,187,548 (GRCm39) |
V79M |
probably damaging |
Het |
| Armc9 |
G |
A |
1: 86,124,041 (GRCm39) |
G405D |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,327 (GRCm39) |
R252S |
probably benign |
Het |
| C9orf72 |
G |
T |
4: 35,194,170 (GRCm39) |
H372Q |
|
Het |
| Camkk2 |
G |
T |
5: 122,880,275 (GRCm39) |
T447K |
possibly damaging |
Het |
| Car2 |
A |
G |
3: 14,965,130 (GRCm39) |
I255V |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,803,502 (GRCm39) |
S525T |
probably benign |
Het |
| Col24a1 |
T |
C |
3: 145,019,901 (GRCm39) |
Y91H |
probably benign |
Het |
| Cryba1 |
C |
A |
11: 77,613,434 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,313,366 (GRCm39) |
E1348K |
|
Het |
| Dcst1 |
A |
G |
3: 89,260,068 (GRCm39) |
L592P |
probably damaging |
Het |
| Ddx17 |
A |
G |
15: 79,421,723 (GRCm39) |
I334T |
probably damaging |
Het |
| Dspp |
A |
T |
5: 104,323,259 (GRCm39) |
N134I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,873,665 (GRCm39) |
V535A |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,690,732 (GRCm39) |
E847G |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,508,056 (GRCm39) |
S160P |
possibly damaging |
Het |
| Fndc9 |
C |
T |
11: 46,129,138 (GRCm39) |
A219V |
probably damaging |
Het |
| Ifitm1 |
G |
A |
7: 140,548,282 (GRCm39) |
W38* |
probably null |
Het |
| Iqch |
A |
G |
9: 63,329,002 (GRCm39) |
|
probably null |
Het |
| Lama4 |
T |
C |
10: 38,902,747 (GRCm39) |
|
probably null |
Het |
| Lrrc18 |
A |
G |
14: 32,730,973 (GRCm39) |
K171E |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,659,927 (GRCm39) |
S1007P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,549,789 (GRCm39) |
L5501F |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,736 (GRCm39) |
N1557S |
probably benign |
Het |
| Or5g25 |
A |
T |
2: 85,477,794 (GRCm39) |
Y290* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,894,110 (GRCm39) |
T628A |
unknown |
Het |
| Pld5 |
A |
T |
1: 175,872,480 (GRCm39) |
L219Q |
probably damaging |
Het |
| Rabggta |
G |
A |
14: 55,956,969 (GRCm39) |
T273I |
probably benign |
Het |
| Rnf208 |
A |
G |
2: 25,133,912 (GRCm39) |
D202G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,441,040 (GRCm39) |
N1029D |
not run |
Het |
| Sema6b |
T |
A |
17: 56,438,555 (GRCm39) |
I114F |
probably damaging |
Het |
| Sgpp1 |
A |
G |
12: 75,769,451 (GRCm39) |
I239T |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,071,515 (GRCm39) |
N638S |
probably damaging |
Het |
| Slc39a11 |
T |
C |
11: 113,482,781 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
C |
19: 53,629,390 (GRCm39) |
S948P |
probably benign |
Het |
| Snx24 |
T |
A |
18: 53,522,623 (GRCm39) |
H159Q |
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,022,651 (GRCm39) |
N493K |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,685 (GRCm39) |
D1242G |
probably damaging |
Het |
| Triobp |
G |
T |
15: 78,858,204 (GRCm39) |
R1268S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,136,753 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,340,325 (GRCm39) |
S855R |
probably benign |
Het |
| Zscan20 |
T |
A |
4: 128,479,599 (GRCm39) |
H964L |
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 |
|
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 |
|
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'- CTTTCCGTGAGAGAAGGTTGAG -3'
(R):5'- CAGGGAGTTACAGCGGTATG -3'
Sequencing Primer
(F):5'- CCGTGAGAGAAGGTTGAGAAGGG -3'
(R):5'- AGGGAGTTACAGCGGTATGTTTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation