Incidental Mutation 'IGL01528:Krt35'
ID |
89646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt35
|
Ensembl Gene |
ENSMUSG00000048013 |
Gene Name |
keratin 35 |
Synonyms |
Ha5, Krt1-24 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
IGL01528
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99983018-99987050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99985420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 207
(L207Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
|
AlphaFold |
Q497I4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103127
AA Change: L207Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099416 Gene: ENSMUSG00000048013 AA Change: L207Q
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
A |
9: 21,451,190 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
A |
G |
16: 18,630,311 (GRCm39) |
F2S |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,381,403 (GRCm39) |
R598G |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,812,909 (GRCm39) |
V1038A |
possibly damaging |
Het |
Dusp22 |
C |
T |
13: 30,889,611 (GRCm39) |
T64I |
probably benign |
Het |
Gfer |
T |
A |
17: 24,914,903 (GRCm39) |
T47S |
probably benign |
Het |
Gfra2 |
T |
C |
14: 71,203,738 (GRCm39) |
S296P |
possibly damaging |
Het |
Gjb2 |
G |
A |
14: 57,338,125 (GRCm39) |
L28F |
probably damaging |
Het |
Gm17782 |
A |
G |
17: 36,472,682 (GRCm39) |
|
probably benign |
Het |
Gm2832 |
T |
C |
14: 41,003,670 (GRCm39) |
V167A |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,192,767 (GRCm39) |
|
probably null |
Het |
Gpr45 |
A |
G |
1: 43,072,383 (GRCm39) |
H342R |
probably benign |
Het |
Gsdmd |
A |
T |
15: 75,735,354 (GRCm39) |
T33S |
possibly damaging |
Het |
Hal |
T |
A |
10: 93,333,455 (GRCm39) |
L341Q |
probably damaging |
Het |
Igfbp7 |
T |
G |
5: 77,499,179 (GRCm39) |
D273A |
probably damaging |
Het |
Kdm2a |
T |
C |
19: 4,393,083 (GRCm39) |
D424G |
probably benign |
Het |
Kif13a |
C |
T |
13: 47,018,313 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,809,194 (GRCm39) |
D2572E |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,322,804 (GRCm39) |
V1848A |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,686,957 (GRCm39) |
Y21H |
probably damaging |
Het |
Ncan |
G |
T |
8: 70,562,731 (GRCm39) |
A509E |
probably benign |
Het |
Or2q1 |
T |
C |
6: 42,795,208 (GRCm39) |
S268P |
probably damaging |
Het |
Pde11a |
G |
A |
2: 76,025,300 (GRCm39) |
|
probably benign |
Het |
Phf19 |
G |
T |
2: 34,787,119 (GRCm39) |
D448E |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,282,488 (GRCm39) |
V799D |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,349,634 (GRCm39) |
Y7* |
probably null |
Het |
Sema3c |
A |
G |
5: 17,919,413 (GRCm39) |
H483R |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,527,328 (GRCm39) |
|
probably benign |
Het |
St3gal1 |
C |
A |
15: 66,984,466 (GRCm39) |
R103L |
probably benign |
Het |
Tet2 |
A |
T |
3: 133,186,059 (GRCm39) |
V1126E |
possibly damaging |
Het |
Tmem117 |
A |
T |
15: 94,992,545 (GRCm39) |
I402L |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,249,826 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,702,182 (GRCm39) |
|
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,532 (GRCm39) |
M243L |
probably benign |
Het |
Wnt1 |
G |
T |
15: 98,689,714 (GRCm39) |
W167L |
probably damaging |
Het |
Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
Zranb2 |
T |
C |
3: 157,250,602 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2013-12-03 |