Incidental Mutation 'IGL01653:Krt6b'
| ID |
102894 |
| 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: 0.099)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101584458-101588722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101587549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 182
(T182S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023786
AA Change: T182S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: T182S
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Krt6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Krt6b
|
APN |
15 |
101,588,267 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
2014-01-21 |
Incidental Mutation