Incidental Mutation 'IGL00493:Krt6a'
| ID |
4030 |
| 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: 0.195)
|
| Stock # |
IGL00493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101598363-101602740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101601229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 241
(K241N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023788]
|
| AlphaFold |
P50446 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023788
AA Change: K241N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
AA Change: K241N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,751,761 (GRCm39) |
T509A |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,337,379 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,427,889 (GRCm39) |
I687F |
possibly damaging |
Het |
| Atg4d |
T |
C |
9: 21,178,217 (GRCm39) |
F112L |
probably damaging |
Het |
| Bltp3b |
A |
C |
10: 89,615,846 (GRCm39) |
D163A |
probably damaging |
Het |
| Cd200 |
T |
A |
16: 45,217,409 (GRCm39) |
D94V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,194,359 (GRCm39) |
K2285R |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,521,745 (GRCm39) |
I426N |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,751,659 (GRCm39) |
V483E |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,126,915 (GRCm39) |
A932V |
possibly damaging |
Het |
| Dlc1 |
A |
T |
8: 37,037,436 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,578,009 (GRCm39) |
I138V |
possibly damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,506 (GRCm39) |
V349A |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,122,127 (GRCm39) |
E523* |
probably null |
Het |
| Ift70a1 |
C |
A |
2: 75,812,085 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,307,011 (GRCm39) |
S375G |
probably benign |
Het |
| Meikin |
C |
T |
11: 54,289,320 (GRCm39) |
P231L |
probably damaging |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Mvk |
G |
A |
5: 114,583,502 (GRCm39) |
V14I |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,199,754 (GRCm39) |
S1021L |
probably damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,401 (GRCm39) |
T193M |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,367,279 (GRCm39) |
D272E |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,550,922 (GRCm39) |
N316K |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,151,324 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,327,671 (GRCm39) |
I850L |
probably damaging |
Het |
| Rdm1 |
T |
G |
11: 101,526,580 (GRCm39) |
C251G |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,624,324 (GRCm39) |
|
probably benign |
Het |
| Rps6kl1 |
G |
A |
12: 85,186,157 (GRCm39) |
P291L |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,781,387 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
C |
13: 33,277,850 (GRCm39) |
F361S |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,475,788 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
G |
7: 105,205,848 (GRCm39) |
V405G |
probably damaging |
Het |
| Spmip11 |
T |
C |
15: 98,486,425 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,551,780 (GRCm39) |
T438A |
possibly damaging |
Het |
| Treh |
A |
T |
9: 44,595,197 (GRCm39) |
D89V |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,188,140 (GRCm39) |
H452L |
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,073,817 (GRCm39) |
C181R |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,230,101 (GRCm39) |
F277I |
possibly damaging |
Het |
| Zswim4 |
T |
G |
8: 84,938,769 (GRCm39) |
T1038P |
probably damaging |
Het |
|
| Other mutations in Krt6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Krt6a
|
APN |
15 |
101,602,665 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
Incidental Mutation