Incidental Mutation 'R3024:Krt6a'
| ID |
265782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt6a
|
| Ensembl Gene |
ENSMUSG00000058354 |
| Gene Name |
keratin 6A |
| Synonyms |
Krt2-6a, MK6a, Krt2-6c, mK6[a] |
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101598363-101602740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101599724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 463
(C463S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023788]
|
| AlphaFold |
P50446 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023788
AA Change: C463S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
AA Change: C463S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,305 (GRCm39) |
I36M |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
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 |
|
|
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 |
|
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'- GCTCAGAGAGAATCCACTAGAG -3'
(R):5'- AGCTGCTATTGCTGATGCTG -3'
Sequencing Primer
(F):5'- CTGTAGCTGTTTTCAAACACACCAG -3'
(R):5'- TGCTGATGCTGAGCAACG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation