Incidental Mutation 'R5818:Krt10'
| ID |
449177 |
| 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 |
043398-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R5818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99276080-99280190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99279597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 188
(Y188H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103131]
[ENSMUST00000211768]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103131
AA Change: Y188H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099420
Gene: ENSMUSG00000019761
AA Change: Y188H
| 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 |
0.8769 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,110,469 (GRCm39) |
V560D |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,618,444 (GRCm39) |
I72T |
probably damaging |
Het |
| Adam33 |
A |
T |
2: 130,896,278 (GRCm39) |
C440S |
possibly damaging |
Het |
| Bace1 |
T |
C |
9: 45,770,347 (GRCm39) |
I361T |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,215 (GRCm39) |
N219K |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,308,946 (GRCm39) |
K1634N |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,046,836 (GRCm39) |
|
probably null |
Het |
| Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
| Corin |
G |
T |
5: 72,592,738 (GRCm39) |
H87N |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,205,647 (GRCm39) |
I557F |
possibly damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,104,229 (GRCm39) |
V99A |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
| Dgat1 |
G |
A |
15: 76,386,407 (GRCm39) |
|
probably benign |
Het |
| Eif1ad8 |
T |
G |
12: 87,563,830 (GRCm39) |
V55G |
possibly damaging |
Het |
| Fbxw26 |
G |
T |
9: 109,561,634 (GRCm39) |
R187S |
probably benign |
Het |
| Gabrd |
G |
A |
4: 155,472,818 (GRCm39) |
P122S |
probably damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Hif1a |
A |
G |
12: 73,986,338 (GRCm39) |
Q343R |
possibly damaging |
Het |
| Hyou1 |
G |
A |
9: 44,300,223 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,893,864 (GRCm39) |
I2072K |
possibly damaging |
Het |
| Itprid2 |
T |
A |
2: 79,474,937 (GRCm39) |
S299T |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 44,843,383 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,454,054 (GRCm39) |
A328T |
probably benign |
Het |
| Krtap4-16 |
T |
A |
11: 99,742,349 (GRCm39) |
Q17L |
unknown |
Het |
| Larp4b |
T |
A |
13: 9,208,596 (GRCm39) |
S416R |
probably benign |
Het |
| Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,483,831 (GRCm39) |
I571T |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,388,777 (GRCm39) |
R2021Q |
probably benign |
Het |
| Npl |
G |
A |
1: 153,411,661 (GRCm39) |
R63C |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,626 (GRCm39) |
I80V |
probably benign |
Het |
| Numb |
C |
T |
12: 83,872,028 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
A |
C |
2: 119,465,994 (GRCm39) |
M205L |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,661 (GRCm39) |
S135G |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,265,311 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,074,305 (GRCm39) |
|
probably benign |
Het |
| Ppm1b |
A |
G |
17: 85,301,147 (GRCm39) |
K9R |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,235,090 (GRCm39) |
S608G |
probably damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Sohlh2 |
A |
G |
3: 55,097,922 (GRCm39) |
T125A |
probably damaging |
Het |
| Tet1 |
C |
A |
10: 62,652,187 (GRCm39) |
M1610I |
possibly damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,280,869 (GRCm39) |
D630E |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,111,127 (GRCm39) |
D247G |
probably benign |
Het |
| Tmem198b |
G |
A |
10: 128,638,057 (GRCm39) |
R169W |
probably benign |
Het |
| Tmem201 |
G |
A |
4: 149,811,849 (GRCm39) |
A332V |
probably benign |
Het |
| Tsku |
T |
C |
7: 98,001,305 (GRCm39) |
D342G |
possibly damaging |
Het |
| Ucn2 |
A |
T |
9: 108,815,565 (GRCm39) |
H109L |
probably benign |
Het |
| Virma |
T |
G |
4: 11,513,319 (GRCm39) |
L391R |
possibly damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,548,098 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,142 (GRCm39) |
H386R |
probably benign |
Het |
| Zfp608 |
C |
T |
18: 55,028,468 (GRCm39) |
R1315Q |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,183,986 (GRCm39) |
T983A |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,629,931 (GRCm39) |
S65P |
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 |
|
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 |
|
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'- TTTGATGAGGCCTGGTTACAC -3'
(R):5'- TATGGAGGAAGCAGCTTTGG -3'
Sequencing Primer
(F):5'- TGAGGCCTGGTTACACTAGAC -3'
(R):5'- AGATGGTGGCAGCCTTCTCTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation