Incidental Mutation 'R2218:Krt35'
ID |
241279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt35
|
Ensembl Gene |
ENSMUSG00000048013 |
Gene Name |
keratin 35 |
Synonyms |
Ha5, Krt1-24 |
MMRRC Submission |
040220-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R2218 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99983018-99987050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99986988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 9
(S9G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
|
AlphaFold |
Q497I4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000103127
AA Change: S9G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099416 Gene: ENSMUSG00000048013 AA Change: S9G
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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Brinp1 |
A |
G |
4: 68,680,952 (GRCm39) |
L526P |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
F13b |
G |
T |
1: 139,434,582 (GRCm39) |
S116I |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
Gls2 |
T |
C |
10: 128,040,583 (GRCm39) |
L328P |
probably damaging |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
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 |
R0750:Krt35
|
UTSW |
11 |
99,986,979 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1815:Krt35
|
UTSW |
11 |
99,986,565 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TGGATACCCTGTAATTGCCTC -3'
(R):5'- TTTTACGAGGCCGGGCTATG -3'
Sequencing Primer
(F):5'- GTAATTGCCTCTCCCCAGG -3'
(R):5'- GCTATGTTCACGGGAAGCTAAATAAC -3'
|
Posted On |
2014-10-15 |