Incidental Mutation 'R0024:Krt6a'
| ID |
177916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt6a
|
| Ensembl Gene |
ENSMUSG00000058354 |
| Gene Name |
keratin 6A |
| Synonyms |
Krt2-6a, MK6a, Krt2-6c, mK6[a] |
| MMRRC Submission |
038319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R0024 (G1)
|
| Quality Score |
53 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101598363-101602740 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 101599150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023788]
|
| AlphaFold |
P50446 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023788
|
| SMART Domains |
Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (47/48) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,032,608 (GRCm39) |
D209V |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,223,311 (GRCm39) |
D40G |
unknown |
Het |
| Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,753,553 (GRCm39) |
R154H |
possibly damaging |
Het |
| Emid1 |
A |
T |
11: 5,093,869 (GRCm39) |
W93R |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,376,796 (GRCm39) |
S947T |
probably damaging |
Het |
| Gstt4 |
T |
A |
10: 75,653,038 (GRCm39) |
M175L |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,446,639 (GRCm39) |
T242I |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,987,722 (GRCm39) |
I750V |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
| Myof |
G |
T |
19: 37,904,188 (GRCm39) |
T4N |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,194 (GRCm39) |
M306T |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,834,421 (GRCm39) |
Q77R |
probably benign |
Het |
| Picalm |
T |
C |
7: 89,779,912 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,581,568 (GRCm39) |
L141P |
probably damaging |
Het |
| Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
| Rgs5 |
T |
A |
1: 169,504,461 (GRCm39) |
V37D |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,345,792 (GRCm39) |
Q1259L |
possibly damaging |
Het |
| Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAGAGACAAGCTCTTGGTGAC -3'
(R):5'- GCTGAAGTGATGGCTGCCTAGTTC -3'
Sequencing Primer
(F):5'- TGGTGACAGAATTCACTGCC -3'
(R):5'- GATGGCTGCCTAGTTCTCACC -3'
|
| Posted On |
2014-04-30 |
Incidental Mutation