Incidental Mutation 'R3873:Krt26'
ID |
276678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt26
|
Ensembl Gene |
ENSMUSG00000075570 |
Gene Name |
keratin 26 |
Synonyms |
4732407F15Rik |
MMRRC Submission |
040791-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R3873 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99225570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 304
(K304E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
AlphaFold |
Q3TRJ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100482
AA Change: K304E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098051 Gene: ENSMUSG00000075570 AA Change: K304E
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 |
0.6276 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,203,547 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,305,125 (GRCm39) |
T110A |
probably benign |
Het |
Agtpbp1 |
T |
C |
13: 59,608,410 (GRCm39) |
M175V |
possibly damaging |
Het |
Akt1 |
T |
C |
12: 112,622,967 (GRCm39) |
N367S |
probably benign |
Het |
Ankrd61 |
T |
A |
5: 143,828,646 (GRCm39) |
T67S |
probably damaging |
Het |
Arl8a |
T |
C |
1: 135,080,610 (GRCm39) |
|
probably null |
Het |
Arvcf |
G |
A |
16: 18,221,783 (GRCm39) |
R736Q |
probably damaging |
Het |
Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,244,661 (GRCm39) |
V1265E |
probably damaging |
Het |
Cfap299 |
A |
T |
5: 98,885,482 (GRCm39) |
I130F |
probably damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,317,588 (GRCm39) |
D397G |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dst |
A |
G |
1: 34,328,701 (GRCm39) |
T4590A |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
Fscb |
G |
T |
12: 64,519,906 (GRCm39) |
P520Q |
unknown |
Het |
Gli1 |
T |
A |
10: 127,167,225 (GRCm39) |
N676I |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Il7 |
A |
T |
3: 7,669,224 (GRCm39) |
V4D |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,004,442 (GRCm39) |
I243N |
probably damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
Morc3 |
G |
A |
16: 93,659,324 (GRCm39) |
V411I |
probably damaging |
Het |
Mrpl32 |
G |
T |
13: 14,787,630 (GRCm39) |
|
probably benign |
Het |
Ncald |
G |
A |
15: 37,397,497 (GRCm39) |
A61V |
probably damaging |
Het |
Nek2 |
T |
C |
1: 191,559,320 (GRCm39) |
V275A |
probably benign |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Or5m10b |
T |
A |
2: 85,699,306 (GRCm39) |
Y123* |
probably null |
Het |
Pgam5 |
T |
C |
5: 110,413,465 (GRCm39) |
Y210C |
probably damaging |
Het |
Phf5a |
T |
C |
15: 81,754,628 (GRCm39) |
N50D |
probably benign |
Het |
Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
Sacs |
A |
G |
14: 61,429,735 (GRCm39) |
K595R |
possibly damaging |
Het |
Scyl3 |
A |
G |
1: 163,778,206 (GRCm39) |
N448S |
probably benign |
Het |
Serpinb9g |
A |
T |
13: 33,670,518 (GRCm39) |
D2V |
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,753,885 (GRCm39) |
|
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,482 (GRCm39) |
L60P |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,151,301 (GRCm39) |
V623A |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vipr2 |
T |
C |
12: 116,099,724 (GRCm39) |
|
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,488,177 (GRCm39) |
M350T |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,339 (GRCm39) |
E417G |
possibly damaging |
Het |
Vmn2r9 |
C |
A |
5: 108,995,701 (GRCm39) |
V316F |
probably benign |
Het |
Zfp53 |
C |
T |
17: 21,728,893 (GRCm39) |
P309S |
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 |
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 |
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'- CCACTTGTTATGTGGTGTAGCC -3'
(R):5'- GATGCAGAGGCCAGCTTTAAAG -3'
Sequencing Primer
(F):5'- CAGAGAGGGCTTTGGCAC -3'
(R):5'- CAGCTTTAAAGAGAAGGTACATCTGC -3'
|
Posted On |
2015-04-06 |