Incidental Mutation 'R9437:Krt10'
ID |
713335 |
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: 0.304)
|
Stock # |
R9437 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99276080-99280190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99276390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 87
(M87T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103131]
[ENSMUST00000211768]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103131
|
SMART Domains |
Protein: ENSMUSP00000099420 Gene: ENSMUSG00000019761
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
AA Change: M87T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,372,199 (GRCm39) |
D415E |
possibly damaging |
Het |
Dcun1d2 |
T |
C |
8: 13,331,004 (GRCm39) |
D42G |
probably benign |
Het |
Ebf4 |
T |
A |
2: 130,202,005 (GRCm39) |
S325T |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
Rc3h2 |
G |
A |
2: 37,272,841 (GRCm39) |
A745V |
possibly damaging |
Het |
Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
possibly 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 |
R9587:Krt10
|
UTSW |
11 |
99,277,420 (GRCm39) |
missense |
possibly damaging |
0.71 |
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'- TCATACTGGTCCAAGCACAC -3'
(R):5'- TCAGCTGAAACTAGCTGGGG -3'
Sequencing Primer
(F):5'- TTCTCCACAAAAGAACACTTTCTG -3'
(R):5'- TCAGCTGAAACTAGCTGGGGTAATC -3'
|
Posted On |
2022-05-16 |