Incidental Mutation 'R4303:Krt36'
| ID |
322507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt36
|
| Ensembl Gene |
ENSMUSG00000020916 |
| Gene Name |
keratin 36 |
| Synonyms |
Krt1-5, HRa-1, keratin 5, Krt1-22 |
| MMRRC Submission |
041090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99994239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 279
(D279E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
| AlphaFold |
B1AQ75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107416
AA Change: D279E
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: D279E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Filament
|
92 |
403 |
4.05e-163 |
SMART |
|
low complexity region
|
425 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127883
|
| Meta Mutation Damage Score |
0.3383 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
| Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
| Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
| Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,777,069 (GRCm39) |
|
probably null |
Het |
| Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
| Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,852 (GRCm39) |
V193E |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
| Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
| Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
| Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,143,704 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
| Tax1bp1 |
T |
C |
6: 52,704,263 (GRCm39) |
V81A |
possibly damaging |
Het |
| Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
| Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
| Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
| Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,609,657 (GRCm39) |
K689N |
possibly damaging |
Het |
|
| Other mutations in Krt36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Krt36
|
APN |
11 |
99,993,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01737:Krt36
|
APN |
11 |
99,994,946 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02388:Krt36
|
APN |
11 |
99,995,990 (GRCm39) |
nonsense |
probably null |
|
|
IGL02985:Krt36
|
APN |
11 |
99,994,005 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0393:Krt36
|
UTSW |
11 |
99,994,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0617:Krt36
|
UTSW |
11 |
99,993,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Krt36
|
UTSW |
11 |
99,994,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Krt36
|
UTSW |
11 |
99,993,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Krt36
|
UTSW |
11 |
99,994,883 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1587:Krt36
|
UTSW |
11 |
99,993,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Krt36
|
UTSW |
11 |
99,994,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Krt36
|
UTSW |
11 |
99,993,856 (GRCm39) |
splice site |
probably benign |
|
|
R1846:Krt36
|
UTSW |
11 |
99,996,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Krt36
|
UTSW |
11 |
99,993,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5140:Krt36
|
UTSW |
11 |
99,994,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Krt36
|
UTSW |
11 |
99,994,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5944:Krt36
|
UTSW |
11 |
99,996,139 (GRCm39) |
missense |
probably benign |
|
|
R6188:Krt36
|
UTSW |
11 |
99,993,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Krt36
|
UTSW |
11 |
99,995,298 (GRCm39) |
nonsense |
probably null |
|
|
R6809:Krt36
|
UTSW |
11 |
99,996,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6856:Krt36
|
UTSW |
11 |
99,994,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Krt36
|
UTSW |
11 |
99,995,972 (GRCm39) |
nonsense |
probably null |
|
|
R7602:Krt36
|
UTSW |
11 |
99,993,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7822:Krt36
|
UTSW |
11 |
99,994,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7894:Krt36
|
UTSW |
11 |
99,996,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Krt36
|
UTSW |
11 |
99,995,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Krt36
|
UTSW |
11 |
99,993,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8904:Krt36
|
UTSW |
11 |
99,996,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Krt36
|
UTSW |
11 |
99,993,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Krt36
|
UTSW |
11 |
99,994,372 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9297:Krt36
|
UTSW |
11 |
99,994,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Krt36
|
UTSW |
11 |
99,994,227 (GRCm39) |
nonsense |
probably null |
|
|
R9387:Krt36
|
UTSW |
11 |
99,994,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Krt36
|
UTSW |
11 |
99,994,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt36
|
UTSW |
11 |
99,995,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAATGATCTCTGTCTGGC -3'
(R):5'- ATCCAGGTCATTGAACCTACC -3'
Sequencing Primer
(F):5'- AATGATCTCTGTCTGGCAACACTG -3'
(R):5'- GGTCATTGAACCTACCAAGCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation