Incidental Mutation 'R3158:Krt6a'
ID |
263602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt6a
|
Ensembl Gene |
ENSMUSG00000058354 |
Gene Name |
keratin 6A |
Synonyms |
Krt2-6a, MK6a, Krt2-6c, mK6[a] |
MMRRC Submission |
040609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R3158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101598363-101602740 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101599801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 437
(Y437C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023788]
|
AlphaFold |
P50446 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023788
AA Change: Y437C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023788 Gene: ENSMUSG00000058354 AA Change: Y437C
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
|
Meta Mutation Damage Score |
0.9640 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (35/36) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
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 |
R3024:Krt6a
|
UTSW |
15 |
101,599,724 (GRCm39) |
missense |
probably benign |
0.02 |
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'- AAAGGGACTATTGTGGGCATAGTC -3'
(R):5'- TGCTCACCAGAAACCATGGTC -3'
Sequencing Primer
(F):5'- TGGGCATAGTCAGTGCTCC -3'
(R):5'- TCAGCCTCTGCAGAGATGTAC -3'
|
Posted On |
2015-02-05 |