Incidental Mutation 'R2761:Krt31'
ID |
254060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt31
|
Ensembl Gene |
ENSMUSG00000048981 |
Gene Name |
keratin 31 |
Synonyms |
Kha1, Ha1, MKHA-1, Krt1-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2761 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99937472-99941377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99938691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 301
(T301A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007318]
|
AlphaFold |
Q61765 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007318
AA Change: T301A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000007318 Gene: ENSMUSG00000048981 AA Change: T301A
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
Filament
|
55 |
366 |
2.14e-153 |
SMART |
low complexity region
|
384 |
411 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136820
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,773,541 (GRCm39) |
V910A |
probably damaging |
Het |
1700123K08Rik |
T |
C |
5: 138,562,436 (GRCm39) |
T102A |
possibly damaging |
Het |
Acoxl |
T |
C |
2: 127,719,733 (GRCm39) |
Y165H |
probably benign |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Cdh1 |
T |
A |
8: 107,380,481 (GRCm39) |
I208N |
possibly damaging |
Het |
Col11a2 |
A |
G |
17: 34,270,000 (GRCm39) |
I477V |
probably damaging |
Het |
Cpa2 |
A |
G |
6: 30,554,193 (GRCm39) |
D271G |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,355,369 (GRCm39) |
M109V |
probably benign |
Het |
Hdac3 |
A |
T |
18: 38,078,779 (GRCm39) |
S111T |
probably benign |
Het |
Kremen1 |
GGG |
GGGTGG |
11: 5,151,792 (GRCm39) |
|
probably benign |
Het |
Rad21 |
T |
A |
15: 51,846,039 (GRCm39) |
K10N |
probably damaging |
Het |
Snap47 |
T |
C |
11: 59,328,885 (GRCm39) |
D139G |
probably benign |
Het |
Tango6 |
C |
A |
8: 107,425,664 (GRCm39) |
T408N |
possibly damaging |
Het |
|
Other mutations in Krt31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02313:Krt31
|
APN |
11 |
99,939,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02433:Krt31
|
APN |
11 |
99,939,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R0393:Krt31
|
UTSW |
11 |
99,941,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Krt31
|
UTSW |
11 |
99,938,951 (GRCm39) |
missense |
probably benign |
0.02 |
R1224:Krt31
|
UTSW |
11 |
99,940,690 (GRCm39) |
critical splice donor site |
probably null |
|
R1544:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1891:Krt31
|
UTSW |
11 |
99,938,634 (GRCm39) |
missense |
probably damaging |
0.98 |
R1940:Krt31
|
UTSW |
11 |
99,939,069 (GRCm39) |
missense |
probably benign |
0.03 |
R1987:Krt31
|
UTSW |
11 |
99,940,406 (GRCm39) |
missense |
probably benign |
0.00 |
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3980:Krt31
|
UTSW |
11 |
99,939,030 (GRCm39) |
missense |
probably damaging |
0.96 |
R4809:Krt31
|
UTSW |
11 |
99,940,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4822:Krt31
|
UTSW |
11 |
99,938,610 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4931:Krt31
|
UTSW |
11 |
99,940,983 (GRCm39) |
missense |
probably benign |
0.05 |
R6146:Krt31
|
UTSW |
11 |
99,939,056 (GRCm39) |
missense |
probably benign |
0.21 |
R6722:Krt31
|
UTSW |
11 |
99,939,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6811:Krt31
|
UTSW |
11 |
99,939,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Krt31
|
UTSW |
11 |
99,938,558 (GRCm39) |
missense |
probably benign |
0.19 |
R7300:Krt31
|
UTSW |
11 |
99,938,612 (GRCm39) |
missense |
probably damaging |
0.96 |
R7548:Krt31
|
UTSW |
11 |
99,940,346 (GRCm39) |
missense |
probably damaging |
0.98 |
R8375:Krt31
|
UTSW |
11 |
99,938,603 (GRCm39) |
missense |
probably benign |
0.10 |
X0028:Krt31
|
UTSW |
11 |
99,938,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCCTATACGTGTTGATC -3'
(R):5'- TAGTGTCCAGACTGCTGCTGAG -3'
Sequencing Primer
(F):5'- ATACGTGTTGATCTCACACTCCAG -3'
(R):5'- AGAGTCACTGGGGTGTCC -3'
|
Posted On |
2014-12-04 |