Incidental Mutation 'IGL00596:Krt6a'
ID |
4029 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt6a
|
Ensembl Gene |
ENSMUSG00000058354 |
Gene Name |
keratin 6A |
Synonyms |
Krt2-6a, MK6a, Krt2-6c, mK6[a] |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL00596
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101598363-101602740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101602665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 7
(I7F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023788]
|
AlphaFold |
P50446 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023788
AA Change: I7F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023788 Gene: ENSMUSG00000058354 AA Change: I7F
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
15 |
148 |
4.1e-36 |
PFAM |
Filament
|
151 |
464 |
7.2e-178 |
SMART |
low complexity region
|
483 |
551 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230205
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit delayed wound healing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
Cc2d1b |
T |
C |
4: 108,484,503 (GRCm39) |
I446T |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
Dym |
T |
A |
18: 75,252,320 (GRCm39) |
V362D |
probably benign |
Het |
Epm2a |
A |
T |
10: 11,324,384 (GRCm39) |
|
probably null |
Het |
Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
Iars2 |
A |
G |
1: 185,048,151 (GRCm39) |
V527A |
probably benign |
Het |
Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
Pomgnt2 |
A |
T |
9: 121,812,191 (GRCm39) |
W197R |
probably benign |
Het |
Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Krt6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Krt6a
|
APN |
15 |
101,601,229 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4468001:Krt6a
|
UTSW |
15 |
101,602,352 (GRCm39) |
missense |
probably damaging |
0.98 |
R0024:Krt6a
|
UTSW |
15 |
101,599,150 (GRCm39) |
splice site |
probably benign |
|
R0024:Krt6a
|
UTSW |
15 |
101,599,150 (GRCm39) |
splice site |
probably benign |
|
R0811:Krt6a
|
UTSW |
15 |
101,601,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Krt6a
|
UTSW |
15 |
101,601,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Krt6a
|
UTSW |
15 |
101,602,271 (GRCm39) |
missense |
probably damaging |
0.99 |
R0924:Krt6a
|
UTSW |
15 |
101,599,235 (GRCm39) |
splice site |
probably benign |
|
R1525:Krt6a
|
UTSW |
15 |
101,602,637 (GRCm39) |
missense |
probably benign |
|
R1591:Krt6a
|
UTSW |
15 |
101,600,792 (GRCm39) |
splice site |
probably null |
|
R1725:Krt6a
|
UTSW |
15 |
101,600,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Krt6a
|
UTSW |
15 |
101,599,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Krt6a
|
UTSW |
15 |
101,601,606 (GRCm39) |
missense |
probably benign |
0.41 |
R3024:Krt6a
|
UTSW |
15 |
101,599,724 (GRCm39) |
missense |
probably benign |
0.02 |
R3158:Krt6a
|
UTSW |
15 |
101,599,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5369:Krt6a
|
UTSW |
15 |
101,600,993 (GRCm39) |
missense |
probably benign |
0.06 |
R5637:Krt6a
|
UTSW |
15 |
101,600,714 (GRCm39) |
missense |
probably benign |
0.25 |
R6164:Krt6a
|
UTSW |
15 |
101,601,008 (GRCm39) |
missense |
probably damaging |
0.99 |
R6320:Krt6a
|
UTSW |
15 |
101,600,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R6562:Krt6a
|
UTSW |
15 |
101,600,094 (GRCm39) |
missense |
probably benign |
0.36 |
R7267:Krt6a
|
UTSW |
15 |
101,602,289 (GRCm39) |
missense |
probably benign |
0.03 |
R7560:Krt6a
|
UTSW |
15 |
101,598,994 (GRCm39) |
missense |
unknown |
|
R7621:Krt6a
|
UTSW |
15 |
101,600,187 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7671:Krt6a
|
UTSW |
15 |
101,598,978 (GRCm39) |
missense |
unknown |
|
R8017:Krt6a
|
UTSW |
15 |
101,602,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8019:Krt6a
|
UTSW |
15 |
101,602,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8318:Krt6a
|
UTSW |
15 |
101,602,682 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R8508:Krt6a
|
UTSW |
15 |
101,601,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R9183:Krt6a
|
UTSW |
15 |
101,601,446 (GRCm39) |
missense |
probably benign |
0.03 |
R9652:Krt6a
|
UTSW |
15 |
101,599,120 (GRCm39) |
missense |
probably benign |
0.35 |
X0067:Krt6a
|
UTSW |
15 |
101,602,212 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2012-04-20 |