Incidental Mutation 'R6626:Krt26'
ID |
524822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt26
|
Ensembl Gene |
ENSMUSG00000075570 |
Gene Name |
keratin 26 |
Synonyms |
4732407F15Rik |
MMRRC Submission |
044748-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99220528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 441
(V441M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
AlphaFold |
Q3TRJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100482
AA Change: V441M
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000098051 Gene: ENSMUSG00000075570 AA Change: V441M
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
65 |
N/A |
INTRINSIC |
Filament
|
79 |
394 |
1.1e-132 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148770
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
T |
C |
11: 3,888,056 (GRCm39) |
H110R |
unknown |
Het |
Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,465,207 (GRCm39) |
L19H |
probably damaging |
Het |
Bcl9 |
C |
T |
3: 97,122,712 (GRCm39) |
R29H |
probably benign |
Het |
Boc |
A |
T |
16: 44,340,803 (GRCm39) |
I49N |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,703,164 (GRCm39) |
I298V |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,022,703 (GRCm39) |
S879P |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,786,143 (GRCm39) |
|
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,230,892 (GRCm39) |
I63T |
probably damaging |
Het |
Flnb |
C |
T |
14: 7,929,012 (GRCm38) |
R1914C |
probably damaging |
Het |
Gm9493 |
A |
T |
19: 23,597,209 (GRCm39) |
K35M |
possibly damaging |
Het |
Gpld1 |
T |
C |
13: 25,163,953 (GRCm39) |
S552P |
probably damaging |
Het |
Hacd1 |
T |
A |
2: 14,031,755 (GRCm39) |
I243F |
probably benign |
Het |
Klhdc4 |
A |
G |
8: 122,546,901 (GRCm39) |
V110A |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Nav2 |
A |
G |
7: 49,244,100 (GRCm39) |
Y2109C |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,964,210 (GRCm39) |
S387T |
possibly damaging |
Het |
Notch2 |
T |
G |
3: 98,008,921 (GRCm39) |
V513G |
probably damaging |
Het |
Nt5c1b |
A |
T |
12: 10,424,837 (GRCm39) |
R128* |
probably null |
Het |
Olig2 |
T |
C |
16: 91,024,044 (GRCm39) |
S253P |
unknown |
Het |
Or6b1 |
A |
G |
6: 42,815,582 (GRCm39) |
M256V |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,402 (GRCm39) |
V145A |
possibly damaging |
Het |
Or8k53 |
C |
T |
2: 86,177,364 (GRCm39) |
V249I |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,648,780 (GRCm39) |
F199I |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,665,381 (GRCm39) |
T178A |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
Slc16a4 |
G |
A |
3: 107,208,512 (GRCm39) |
A341T |
possibly damaging |
Het |
Spata31h1 |
A |
G |
10: 82,128,667 (GRCm39) |
F1448L |
probably benign |
Het |
Tank |
T |
A |
2: 61,480,640 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
T |
1: 159,677,822 (GRCm39) |
Y69F |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,038,284 (GRCm39) |
D1518G |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,398,792 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
G |
11: 21,281,028 (GRCm39) |
Y227H |
probably damaging |
Het |
Vps50 |
G |
A |
6: 3,551,101 (GRCm39) |
W388* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,006,232 (GRCm39) |
D1045E |
probably damaging |
Het |
Zscan10 |
C |
T |
17: 23,824,831 (GRCm39) |
P96S |
probably damaging |
Het |
|
Other mutations in Krt26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Krt26
|
APN |
11 |
99,222,107 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02019:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02138:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02188:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02189:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02192:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02647:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02651:Krt26
|
APN |
11 |
99,224,471 (GRCm39) |
missense |
probably benign |
0.30 |
R0122:Krt26
|
UTSW |
11 |
99,224,545 (GRCm39) |
nonsense |
probably null |
|
R1842:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
R1843:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
R1923:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
R1924:Krt26
|
UTSW |
11 |
99,224,352 (GRCm39) |
small deletion |
probably benign |
|
R3872:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R3873:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Krt26
|
UTSW |
11 |
99,225,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R4014:Krt26
|
UTSW |
11 |
99,226,128 (GRCm39) |
missense |
probably damaging |
0.99 |
R4939:Krt26
|
UTSW |
11 |
99,225,522 (GRCm39) |
missense |
probably benign |
0.03 |
R5620:Krt26
|
UTSW |
11 |
99,228,597 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6035:Krt26
|
UTSW |
11 |
99,224,415 (GRCm39) |
missense |
probably benign |
0.43 |
R6035:Krt26
|
UTSW |
11 |
99,224,415 (GRCm39) |
missense |
probably benign |
0.43 |
R6151:Krt26
|
UTSW |
11 |
99,228,315 (GRCm39) |
missense |
probably benign |
0.35 |
R6578:Krt26
|
UTSW |
11 |
99,225,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Krt26
|
UTSW |
11 |
99,225,887 (GRCm39) |
missense |
probably benign |
0.25 |
R7557:Krt26
|
UTSW |
11 |
99,225,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7919:Krt26
|
UTSW |
11 |
99,224,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R8051:Krt26
|
UTSW |
11 |
99,228,672 (GRCm39) |
missense |
probably damaging |
0.97 |
R8090:Krt26
|
UTSW |
11 |
99,227,315 (GRCm39) |
missense |
probably benign |
0.13 |
R8163:Krt26
|
UTSW |
11 |
99,220,498 (GRCm39) |
missense |
probably benign |
0.00 |
R8211:Krt26
|
UTSW |
11 |
99,226,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8480:Krt26
|
UTSW |
11 |
99,228,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R9040:Krt26
|
UTSW |
11 |
99,222,093 (GRCm39) |
missense |
probably benign |
0.00 |
R9418:Krt26
|
UTSW |
11 |
99,228,741 (GRCm39) |
start gained |
probably benign |
|
Z1186:Krt26
|
UTSW |
11 |
99,228,643 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1191:Krt26
|
UTSW |
11 |
99,228,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTGACTTGTAGGAACAGGC -3'
(R):5'- ATCAGTCCTGGCTCTTGTTAATAAC -3'
Sequencing Primer
(F):5'- GGAACAGGCATGAATGATTTTCTTG -3'
(R):5'- CCTGGCTCTTGTTAATAACTAACTC -3'
|
Posted On |
2018-06-22 |