Incidental Mutation 'R9587:Krt10'
ID |
722842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt10
|
Ensembl Gene |
ENSMUSG00000019761 |
Gene Name |
keratin 10 |
Synonyms |
K10, cytokeratin 10, keratin 10, K1C1, Krt-1.10, suprabasal cytokeratin 10, D130054E02Rik, Krt1-10 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R9587 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99276080-99280190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99277420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 426
(D426G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103131]
[ENSMUST00000211768]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103131
AA Change: D426G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099420 Gene: ENSMUSG00000019761 AA Change: D426G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
133 |
N/A |
INTRINSIC |
Filament
|
134 |
448 |
6e-166 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211768
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations may result in hyperkeratosis and blistering of the skin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
A |
5: 4,119,149 (GRCm39) |
L3552Q |
probably damaging |
Het |
Atat1 |
T |
C |
17: 36,209,182 (GRCm39) |
E353G |
probably benign |
Het |
Banf2 |
A |
G |
2: 143,907,452 (GRCm39) |
K42R |
probably damaging |
Het |
Cabp7 |
T |
A |
11: 4,688,865 (GRCm39) |
M202L |
probably damaging |
Het |
Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,770,500 (GRCm39) |
V498A |
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,440,878 (GRCm39) |
F150L |
probably damaging |
Het |
Cyb5r1 |
G |
A |
1: 134,335,387 (GRCm39) |
G141R |
probably damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dnah9 |
T |
C |
11: 65,999,217 (GRCm39) |
Q974R |
probably null |
Het |
Eps8l3 |
G |
A |
3: 107,798,683 (GRCm39) |
R523Q |
probably benign |
Het |
Ext1 |
T |
C |
15: 52,955,808 (GRCm39) |
I430V |
possibly damaging |
Het |
Gga3 |
T |
C |
11: 115,481,717 (GRCm39) |
K202R |
probably damaging |
Het |
Gm11567 |
T |
C |
11: 99,770,136 (GRCm39) |
W25R |
unknown |
Het |
Gpr3 |
G |
A |
4: 132,937,988 (GRCm39) |
A228V |
probably damaging |
Het |
Krt24 |
T |
A |
11: 99,174,453 (GRCm39) |
I205F |
probably damaging |
Het |
Krt33a |
T |
C |
11: 99,906,733 (GRCm39) |
N81D |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,847,277 (GRCm39) |
S505P |
possibly damaging |
Het |
Matr3 |
A |
G |
18: 35,717,876 (GRCm39) |
D696G |
probably null |
Het |
Mov10 |
C |
T |
3: 104,711,899 (GRCm39) |
G158S |
probably benign |
Het |
Myh1 |
T |
A |
11: 67,102,196 (GRCm39) |
M829K |
probably benign |
Het |
Ncam2 |
T |
C |
16: 81,262,501 (GRCm39) |
V318A |
probably benign |
Het |
Ndufv3 |
A |
G |
17: 31,747,106 (GRCm39) |
E332G |
probably benign |
Het |
Ngdn |
C |
T |
14: 55,254,578 (GRCm39) |
T43M |
probably benign |
Het |
Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
Or2y17 |
C |
T |
11: 49,232,007 (GRCm39) |
S216F |
probably benign |
Het |
Or3a10 |
G |
A |
11: 73,935,360 (GRCm39) |
H247Y |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,584,184 (GRCm39) |
M51K |
possibly damaging |
Het |
Or8u8 |
A |
T |
2: 86,011,564 (GRCm39) |
V297E |
probably damaging |
Het |
Prl2b1 |
G |
A |
13: 27,567,601 (GRCm39) |
A181V |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,663,679 (GRCm39) |
D319G |
probably damaging |
Het |
Sfswap |
G |
A |
5: 129,618,427 (GRCm39) |
D454N |
probably benign |
Het |
Slc38a6 |
G |
T |
12: 73,388,513 (GRCm39) |
K242N |
probably benign |
Het |
Tmigd3 |
A |
G |
3: 105,824,088 (GRCm39) |
D19G |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,308,722 (GRCm39) |
E380G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,624,976 (GRCm39) |
I15201F |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,322 (GRCm39) |
S414P |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,214,936 (GRCm39) |
K306N |
possibly damaging |
Het |
Wdfy4 |
A |
T |
14: 32,769,230 (GRCm39) |
Y2232* |
probably null |
Het |
Wdr53 |
A |
G |
16: 32,075,830 (GRCm39) |
D345G |
probably damaging |
Het |
Zfp26 |
G |
A |
9: 20,348,213 (GRCm39) |
R784C |
probably damaging |
Het |
Zfp58 |
A |
T |
13: 67,639,823 (GRCm39) |
C223S |
probably damaging |
Het |
Zfp618 |
A |
G |
4: 63,051,916 (GRCm39) |
H899R |
|
Het |
Zfp963 |
A |
G |
8: 70,195,692 (GRCm39) |
Y254H |
probably benign |
Het |
Zfp994 |
T |
C |
17: 22,421,764 (GRCm39) |
D17G |
probably damaging |
Het |
|
Other mutations in Krt10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03179:Krt10
|
APN |
11 |
99,280,044 (GRCm39) |
unclassified |
probably benign |
|
Rough-fur
|
UTSW |
11 |
99,279,644 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4304:Krt10
|
UTSW |
11 |
99,280,100 (GRCm39) |
unclassified |
probably benign |
|
FR4304:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,280,100 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,277,028 (GRCm39) |
unclassified |
probably benign |
|
FR4340:Krt10
|
UTSW |
11 |
99,277,029 (GRCm39) |
unclassified |
probably benign |
|
FR4342:Krt10
|
UTSW |
11 |
99,277,029 (GRCm39) |
unclassified |
probably benign |
|
FR4342:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Krt10
|
UTSW |
11 |
99,280,093 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Krt10
|
UTSW |
11 |
99,280,102 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Krt10
|
UTSW |
11 |
99,280,099 (GRCm39) |
unclassified |
probably benign |
|
FR4589:Krt10
|
UTSW |
11 |
99,280,102 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,280,105 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,277,023 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Krt10
|
UTSW |
11 |
99,280,099 (GRCm39) |
unclassified |
probably benign |
|
R1386:Krt10
|
UTSW |
11 |
99,276,746 (GRCm39) |
splice site |
probably benign |
|
R1553:Krt10
|
UTSW |
11 |
99,276,806 (GRCm39) |
nonsense |
probably null |
|
R1737:Krt10
|
UTSW |
11 |
99,278,213 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2082:Krt10
|
UTSW |
11 |
99,279,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Krt10
|
UTSW |
11 |
99,277,933 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3409:Krt10
|
UTSW |
11 |
99,278,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Krt10
|
UTSW |
11 |
99,277,019 (GRCm39) |
unclassified |
probably benign |
|
R4042:Krt10
|
UTSW |
11 |
99,277,819 (GRCm39) |
splice site |
probably null |
|
R4043:Krt10
|
UTSW |
11 |
99,277,819 (GRCm39) |
splice site |
probably null |
|
R4915:Krt10
|
UTSW |
11 |
99,278,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R5818:Krt10
|
UTSW |
11 |
99,279,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R6546:Krt10
|
UTSW |
11 |
99,278,221 (GRCm39) |
splice site |
probably null |
|
R6762:Krt10
|
UTSW |
11 |
99,277,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6925:Krt10
|
UTSW |
11 |
99,279,677 (GRCm39) |
missense |
probably damaging |
0.99 |
R6985:Krt10
|
UTSW |
11 |
99,276,456 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7196:Krt10
|
UTSW |
11 |
99,278,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Krt10
|
UTSW |
11 |
99,279,913 (GRCm39) |
missense |
unknown |
|
R7849:Krt10
|
UTSW |
11 |
99,278,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Krt10
|
UTSW |
11 |
99,280,086 (GRCm39) |
unclassified |
probably benign |
|
R8404:Krt10
|
UTSW |
11 |
99,278,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8502:Krt10
|
UTSW |
11 |
99,278,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8969:Krt10
|
UTSW |
11 |
99,278,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9437:Krt10
|
UTSW |
11 |
99,276,390 (GRCm39) |
missense |
probably benign |
0.04 |
R9753:Krt10
|
UTSW |
11 |
99,279,792 (GRCm39) |
missense |
unknown |
|
RF057:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
RF062:Krt10
|
UTSW |
11 |
99,280,090 (GRCm39) |
unclassified |
probably benign |
|
RF062:Krt10
|
UTSW |
11 |
99,277,025 (GRCm39) |
unclassified |
probably benign |
|
X0024:Krt10
|
UTSW |
11 |
99,278,848 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Krt10
|
UTSW |
11 |
99,278,325 (GRCm39) |
missense |
probably null |
1.00 |
Z1177:Krt10
|
UTSW |
11 |
99,277,058 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGCCATTCGTAACGGATATTC -3'
(R):5'- CTACGAGGTCTTCCTGAATCCC -3'
Sequencing Primer
(F):5'- GCCATTCGTAACGGATATTCATACAC -3'
(R):5'- GAGGTCTTCCTGAATCCCATGTTTC -3'
|
Posted On |
2022-08-09 |