Incidental Mutation 'IGL00327:Krt6b'
ID |
4031 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt6b
|
Ensembl Gene |
ENSMUSG00000023041 |
Gene Name |
keratin 6B |
Synonyms |
mK6[b], Krt2-6b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL00327
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101584458-101588722 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 101588267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 131
(Q131P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023786
AA Change: Q131P
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023786 Gene: ENSMUSG00000023041 AA Change: Q131P
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
15 |
148 |
1.3e-36 |
PFAM |
Filament
|
151 |
464 |
2.79e-175 |
SMART |
low complexity region
|
483 |
537 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198940
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
A |
G |
7: 100,949,367 (GRCm39) |
L60S |
probably damaging |
Het |
Aup1 |
A |
G |
6: 83,033,390 (GRCm39) |
E267G |
probably damaging |
Het |
Bpi |
T |
C |
2: 158,116,764 (GRCm39) |
|
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,074,670 (GRCm39) |
Y484H |
probably benign |
Het |
Colq |
C |
T |
14: 31,257,545 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,431,867 (GRCm39) |
D1242G |
possibly damaging |
Het |
Dclre1c |
T |
A |
2: 3,434,821 (GRCm39) |
L95* |
probably null |
Het |
Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
Krt23 |
T |
C |
11: 99,383,610 (GRCm39) |
E94G |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,926,265 (GRCm39) |
L414P |
probably damaging |
Het |
Lrit2 |
T |
A |
14: 36,793,920 (GRCm39) |
M328K |
probably benign |
Het |
Lysmd3 |
C |
T |
13: 81,813,197 (GRCm39) |
L22F |
probably benign |
Het |
Map3k20 |
A |
G |
2: 72,242,514 (GRCm39) |
D388G |
probably damaging |
Het |
Mrpl44 |
C |
T |
1: 79,758,721 (GRCm39) |
L290F |
probably benign |
Het |
Nell1 |
A |
G |
7: 49,770,421 (GRCm39) |
H160R |
probably damaging |
Het |
Nlrc3 |
T |
C |
16: 3,773,030 (GRCm39) |
N109S |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,040,700 (GRCm39) |
T553A |
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,217,174 (GRCm39) |
T894K |
probably benign |
Het |
Scgb2b27 |
A |
G |
7: 33,712,771 (GRCm39) |
C24R |
probably damaging |
Het |
Sipa1l3 |
G |
T |
7: 29,053,558 (GRCm39) |
H140N |
probably damaging |
Het |
Slc22a23 |
T |
G |
13: 34,489,228 (GRCm39) |
D219A |
probably damaging |
Het |
Slc9a7 |
T |
C |
X: 20,005,158 (GRCm39) |
Y557C |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,854,851 (GRCm39) |
I600N |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,503,643 (GRCm39) |
N190S |
probably benign |
Het |
Tpr |
T |
G |
1: 150,299,447 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,082,512 (GRCm39) |
V501A |
probably benign |
Het |
|
Other mutations in Krt6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01653:Krt6b
|
APN |
15 |
101,587,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01900:Krt6b
|
APN |
15 |
101,585,981 (GRCm39) |
missense |
possibly damaging |
0.45 |
IGL03187:Krt6b
|
APN |
15 |
101,588,392 (GRCm39) |
missense |
probably benign |
|
R0511:Krt6b
|
UTSW |
15 |
101,586,042 (GRCm39) |
splice site |
probably benign |
|
R0788:Krt6b
|
UTSW |
15 |
101,585,954 (GRCm39) |
missense |
probably damaging |
0.96 |
R1370:Krt6b
|
UTSW |
15 |
101,585,987 (GRCm39) |
missense |
probably damaging |
0.96 |
R1481:Krt6b
|
UTSW |
15 |
101,586,809 (GRCm39) |
missense |
probably benign |
0.05 |
R2007:Krt6b
|
UTSW |
15 |
101,586,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Krt6b
|
UTSW |
15 |
101,586,999 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2166:Krt6b
|
UTSW |
15 |
101,587,050 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2227:Krt6b
|
UTSW |
15 |
101,587,557 (GRCm39) |
missense |
probably damaging |
0.96 |
R2495:Krt6b
|
UTSW |
15 |
101,586,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R2496:Krt6b
|
UTSW |
15 |
101,588,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Krt6b
|
UTSW |
15 |
101,586,520 (GRCm39) |
missense |
probably damaging |
0.98 |
R4969:Krt6b
|
UTSW |
15 |
101,588,460 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6301:Krt6b
|
UTSW |
15 |
101,587,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Krt6b
|
UTSW |
15 |
101,585,649 (GRCm39) |
missense |
probably damaging |
0.98 |
R7232:Krt6b
|
UTSW |
15 |
101,586,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7406:Krt6b
|
UTSW |
15 |
101,587,513 (GRCm39) |
missense |
probably benign |
0.04 |
R7414:Krt6b
|
UTSW |
15 |
101,587,449 (GRCm39) |
missense |
probably benign |
0.05 |
R7849:Krt6b
|
UTSW |
15 |
101,587,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Krt6b
|
UTSW |
15 |
101,588,577 (GRCm39) |
missense |
probably damaging |
0.96 |
R8348:Krt6b
|
UTSW |
15 |
101,586,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Krt6b
|
UTSW |
15 |
101,586,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R8736:Krt6b
|
UTSW |
15 |
101,587,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R9466:Krt6b
|
UTSW |
15 |
101,586,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R9633:Krt6b
|
UTSW |
15 |
101,586,996 (GRCm39) |
missense |
probably benign |
0.00 |
R9720:Krt6b
|
UTSW |
15 |
101,588,226 (GRCm39) |
missense |
probably benign |
0.40 |
Z1177:Krt6b
|
UTSW |
15 |
101,586,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |