Incidental Mutation 'R0692:Krt35'
| ID |
63382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt35
|
| Ensembl Gene |
ENSMUSG00000048013 |
| Gene Name |
keratin 35 |
| Synonyms |
Ha5, Krt1-24 |
| MMRRC Submission |
038877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R0692 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99983018-99987050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99983896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 368
(E368G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
[ENSMUST00000107419]
|
| AlphaFold |
Q497I4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103127
AA Change: E368G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
AA Change: E368G
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,205,383 (GRCm39) |
D44E |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,076,616 (GRCm39) |
V421A |
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,172,155 (GRCm39) |
R273* |
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,230,357 (GRCm39) |
L1577* |
probably null |
Het |
| Col14a1 |
G |
C |
15: 55,205,134 (GRCm39) |
G88A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,882,674 (GRCm39) |
C40R |
probably benign |
Het |
| Kcng1 |
T |
A |
2: 168,104,683 (GRCm39) |
I388F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,053 (GRCm39) |
D400G |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,003 (GRCm39) |
C744R |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,872,516 (GRCm39) |
M286V |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,168,698 (GRCm39) |
Y788F |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,673,362 (GRCm39) |
|
probably null |
Het |
| Rflnb |
T |
C |
11: 75,918,279 (GRCm39) |
D62G |
probably benign |
Het |
| Sema4f |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
6: 82,916,511 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,036,082 (GRCm39) |
Y651* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,443,888 (GRCm39) |
T113A |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,994,131 (GRCm39) |
L300Q |
probably damaging |
Het |
| Trim41 |
C |
T |
11: 48,699,077 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
C |
A |
6: 57,903,110 (GRCm39) |
E223* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAGTTTGGCCCAAGACCAGAG -3'
(R):5'- GAAGGACATGCTGTCTGGATCAAGG -3'
Sequencing Primer
(F):5'- gctaaaacccctaaagttcctatacc -3'
(R):5'- GTATTCTGAAGTCCCACTGAGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation