Incidental Mutation 'R4014:Krt26'
ID |
311874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt26
|
Ensembl Gene |
ENSMUSG00000075570 |
Gene Name |
keratin 26 |
Synonyms |
4732407F15Rik |
MMRRC Submission |
040951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4014 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99226128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 189
(G189S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
AlphaFold |
Q3TRJ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100482
AA Change: G189S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098051 Gene: ENSMUSG00000075570 AA Change: G189S
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
|
Meta Mutation Damage Score |
0.5187 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,811,559 (GRCm39) |
Q1008L |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,562,651 (GRCm39) |
F562S |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,655,334 (GRCm39) |
N3293K |
probably benign |
Het |
Cdk20 |
T |
A |
13: 64,585,319 (GRCm39) |
V201D |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,356 (GRCm39) |
V2308A |
probably benign |
Het |
Chek1 |
T |
C |
9: 36,634,050 (GRCm39) |
|
probably benign |
Het |
Ciz1 |
G |
T |
2: 32,264,356 (GRCm39) |
E497D |
probably damaging |
Het |
Clcn6 |
A |
G |
4: 148,102,067 (GRCm39) |
F339S |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Dennd5a |
C |
T |
7: 109,534,688 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 49,997,029 (GRCm39) |
V442I |
probably benign |
Het |
Dmxl2 |
C |
A |
9: 54,285,993 (GRCm39) |
|
probably null |
Het |
Dnah11 |
A |
G |
12: 117,938,649 (GRCm39) |
I3273T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,045 (GRCm39) |
D4132E |
probably damaging |
Het |
Dst |
G |
A |
1: 34,230,363 (GRCm39) |
W2327* |
probably null |
Het |
Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,559,774 (GRCm39) |
V1578I |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,813,862 (GRCm39) |
T3394A |
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,138,758 (GRCm39) |
D97N |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,308,054 (GRCm39) |
E546G |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,464,470 (GRCm39) |
|
probably benign |
Het |
Herc4 |
T |
C |
10: 63,123,323 (GRCm39) |
S433P |
probably benign |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,860,372 (GRCm39) |
D3038E |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,151,672 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
Matn1 |
A |
G |
4: 130,679,258 (GRCm39) |
Q304R |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,575,647 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Mzf1 |
A |
G |
7: 12,777,883 (GRCm39) |
V586A |
possibly damaging |
Het |
Or7g12 |
T |
C |
9: 18,900,178 (GRCm39) |
V298A |
probably benign |
Het |
Or9g20 |
A |
T |
2: 85,629,820 (GRCm39) |
Y265N |
probably damaging |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,416 (GRCm39) |
E195D |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,412,822 (GRCm39) |
D199G |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,336,555 (GRCm39) |
Q3309* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc22a4 |
C |
G |
11: 53,888,218 (GRCm39) |
C270S |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,213 (GRCm39) |
S252P |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Urb1 |
A |
T |
16: 90,566,353 (GRCm39) |
M1478K |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,939 (GRCm39) |
D751G |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,212,253 (GRCm39) |
N139S |
probably benign |
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 |
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 |
R6626:Krt26
|
UTSW |
11 |
99,220,528 (GRCm39) |
missense |
probably benign |
0.28 |
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'- GAGGATTTCAGTTGACATCCACATC -3'
(R):5'- TCCCAAACCATCTTAATAGTTTGCC -3'
Sequencing Primer
(F):5'- CACATCCTGCTATGGAATGAACAGTG -3'
(R):5'- TGCCATTGCAAGAAACCTTGG -3'
|
Posted On |
2015-04-29 |