Incidental Mutation 'IGL03276:Krt35'
| ID |
415419 |
| 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: 0.111)
|
| Stock # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99983018-99987050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99983953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 349
(S349N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
[ENSMUST00000107419]
|
| AlphaFold |
Q497I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103127
AA Change: S349N
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: S349N
| 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 |
probably benign
Transcript: ENSMUST00000107419
|
| SMART Domains |
Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Filament
|
100 |
411 |
5.4e-150 |
SMART |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,372,884 (GRCm39) |
D165G |
possibly damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,497,929 (GRCm39) |
M239K |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,507,260 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,104,642 (GRCm39) |
E384G |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,405,646 (GRCm39) |
N74K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation