Incidental Mutation 'R0750:Krt35'
ID |
70286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt35
|
Ensembl Gene |
ENSMUSG00000048013 |
Gene Name |
keratin 35 |
Synonyms |
Ha5, Krt1-24 |
MMRRC Submission |
038930-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R0750 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99983018-99987050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99986979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 12
(S12P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
|
AlphaFold |
Q497I4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103127
AA Change: S12P
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099416 Gene: ENSMUSG00000048013 AA Change: S12P
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
Filament
|
96 |
407 |
3.32e-159 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173988
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
Validation Efficiency |
|
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]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
probably benign |
Het |
|
Other mutations in Krt35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Krt35
|
APN |
11 |
99,984,785 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Krt35
|
APN |
11 |
99,985,420 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02552:Krt35
|
APN |
11 |
99,983,899 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02583:Krt35
|
APN |
11 |
99,983,360 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03276:Krt35
|
APN |
11 |
99,983,953 (GRCm39) |
missense |
probably benign |
0.39 |
R0011:Krt35
|
UTSW |
11 |
99,984,502 (GRCm39) |
missense |
probably benign |
0.10 |
R0282:Krt35
|
UTSW |
11 |
99,986,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R0692:Krt35
|
UTSW |
11 |
99,983,896 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0737:Krt35
|
UTSW |
11 |
99,984,620 (GRCm39) |
missense |
probably benign |
0.33 |
R1815:Krt35
|
UTSW |
11 |
99,986,565 (GRCm39) |
missense |
probably benign |
0.02 |
R2218:Krt35
|
UTSW |
11 |
99,986,988 (GRCm39) |
missense |
probably null |
|
R2262:Krt35
|
UTSW |
11 |
99,986,593 (GRCm39) |
missense |
probably benign |
0.01 |
R4519:Krt35
|
UTSW |
11 |
99,985,453 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4575:Krt35
|
UTSW |
11 |
99,986,725 (GRCm39) |
missense |
probably benign |
0.40 |
R4599:Krt35
|
UTSW |
11 |
99,984,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Krt35
|
UTSW |
11 |
99,983,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R5140:Krt35
|
UTSW |
11 |
99,985,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5159:Krt35
|
UTSW |
11 |
99,984,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Krt35
|
UTSW |
11 |
99,985,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5909:Krt35
|
UTSW |
11 |
99,986,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R6738:Krt35
|
UTSW |
11 |
99,984,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Krt35
|
UTSW |
11 |
99,986,498 (GRCm39) |
splice site |
probably null |
|
R7163:Krt35
|
UTSW |
11 |
99,986,984 (GRCm39) |
missense |
probably damaging |
0.99 |
R7797:Krt35
|
UTSW |
11 |
99,985,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R8716:Krt35
|
UTSW |
11 |
99,987,011 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R9480:Krt35
|
UTSW |
11 |
99,986,609 (GRCm39) |
missense |
probably benign |
0.24 |
Z1177:Krt35
|
UTSW |
11 |
99,986,883 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATATAGGGCACCTGCTGCTCAC -3'
(R):5'- TTTACGAGGCCGGGCTATGTTCAC -3'
Sequencing Primer
(F):5'- TCATTACCAGTGAGGATGCC -3'
(R):5'- GCTATGTTCACGGGAAGCTAAATAAC -3'
|
Posted On |
2013-09-30 |