Incidental Mutation 'R6546:Krt10'
| ID |
521214 |
| 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 |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99276080-99280190 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 99278221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103131]
[ENSMUST00000211768]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000153599
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211768
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
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 |
|
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 |
|
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'- GGGCATGCTAAGAAAAGCTCC -3'
(R):5'- AGCAAGTCTGACCTGGAAATGC -3'
Sequencing Primer
(F):5'- AGCTCCATGGGCTTCACTAAG -3'
(R):5'- TCTGACCTGGAAATGCAGATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation