Incidental Mutation 'IGL01900:Krt6b'
| ID |
179501 |
| 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 # |
IGL01900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101584458-101588722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101585981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 364
(R364H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023786
AA Change: R364H
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: R364H
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
T |
C |
11: 101,219,649 (GRCm39) |
Y627H |
probably damaging |
Het |
| Car14 |
T |
C |
3: 95,808,533 (GRCm39) |
D27G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,722,732 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,453,743 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
A |
G |
14: 55,725,654 (GRCm39) |
E236G |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,783 (GRCm39) |
T69S |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,618,011 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
T |
C |
8: 85,727,940 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,074,609 (GRCm39) |
I720N |
probably benign |
Het |
| Optc |
A |
G |
1: 133,829,867 (GRCm39) |
V181A |
possibly damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,369 (GRCm39) |
D212G |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,228,892 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,841 (GRCm39) |
T3018A |
probably benign |
Het |
| Rps27l |
T |
A |
9: 66,854,225 (GRCm39) |
|
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,064,173 (GRCm39) |
M294K |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,552,483 (GRCm39) |
V274E |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,218,421 (GRCm39) |
T83K |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,495 (GRCm39) |
N114Y |
probably benign |
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 |
|
IGL01653:Krt6b
|
APN |
15 |
101,587,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation