Incidental Mutation 'R7919:Krt26'
ID |
648241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt26
|
Ensembl Gene |
ENSMUSG00000075570 |
Gene Name |
keratin 26 |
Synonyms |
4732407F15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R7919 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99224420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 366
(E366V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
AlphaFold |
Q3TRJ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100482
AA Change: E366V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098051 Gene: ENSMUSG00000075570 AA Change: E366V
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
65 |
N/A |
INTRINSIC |
Filament
|
79 |
394 |
1.1e-132 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
G |
3: 137,885,311 (GRCm39) |
K95T |
probably damaging |
Het |
9430097D07Rik |
T |
C |
2: 32,464,461 (GRCm39) |
T113A |
unknown |
Het |
Abcc2 |
T |
C |
19: 43,805,248 (GRCm39) |
Y701H |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 69,036,091 (GRCm39) |
H190L |
probably benign |
Het |
Arhgef15 |
T |
C |
11: 68,838,431 (GRCm39) |
T623A |
probably benign |
Het |
Armc3 |
A |
G |
2: 19,290,906 (GRCm39) |
T462A |
probably benign |
Het |
Calhm2 |
C |
T |
19: 47,121,447 (GRCm39) |
V241M |
possibly damaging |
Het |
Cdc25c |
T |
C |
18: 34,868,429 (GRCm39) |
I314V |
probably damaging |
Het |
Cntrl |
G |
A |
2: 35,017,413 (GRCm39) |
D407N |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,350,742 (GRCm39) |
E2588G |
probably damaging |
Het |
Dnm1 |
T |
A |
2: 32,229,990 (GRCm39) |
N178Y |
probably damaging |
Het |
Eaf2 |
T |
A |
16: 36,630,914 (GRCm39) |
E86D |
probably damaging |
Het |
Elf1 |
C |
A |
14: 79,798,339 (GRCm39) |
D75E |
probably benign |
Het |
Fem1c |
T |
C |
18: 46,657,370 (GRCm39) |
T115A |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,936,611 (GRCm39) |
V186A |
probably benign |
Het |
Gatb |
T |
A |
3: 85,511,828 (GRCm39) |
S194R |
probably damaging |
Het |
Gm10775 |
T |
A |
13: 65,407,913 (GRCm39) |
N71K |
unknown |
Het |
Gm19965 |
T |
A |
1: 116,749,850 (GRCm39) |
C510* |
probably null |
Het |
Hydin |
A |
G |
8: 110,993,971 (GRCm39) |
T2A |
unknown |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Jag1 |
G |
A |
2: 136,930,366 (GRCm39) |
T726M |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,408,439 (GRCm39) |
D1306G |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,899,418 (GRCm39) |
E872G |
possibly damaging |
Het |
Med6 |
G |
A |
12: 81,620,621 (GRCm39) |
R242* |
probably null |
Het |
Meis2 |
A |
G |
2: 115,697,788 (GRCm39) |
V370A |
probably benign |
Het |
Mta2 |
C |
T |
19: 8,926,498 (GRCm39) |
R480* |
probably null |
Het |
Mup3 |
A |
T |
4: 62,002,829 (GRCm39) |
N177K |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,417,356 (GRCm39) |
V3435E |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,853,390 (GRCm39) |
T880A |
probably benign |
Het |
Obox1 |
A |
T |
7: 15,290,256 (GRCm39) |
K200* |
probably null |
Het |
Or8j3 |
A |
T |
2: 86,028,609 (GRCm39) |
C162* |
probably null |
Het |
Ovgp1 |
T |
A |
3: 105,888,601 (GRCm39) |
V319D |
probably damaging |
Het |
Plxdc2 |
A |
T |
2: 16,553,036 (GRCm39) |
I145F |
probably damaging |
Het |
Prr30 |
T |
C |
14: 101,436,547 (GRCm39) |
N5S |
possibly damaging |
Het |
Ptcd3 |
T |
C |
6: 71,880,438 (GRCm39) |
Y95C |
probably damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,020,297 (GRCm39) |
S44P |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,273,595 (GRCm39) |
E49G |
probably benign |
Het |
Shroom1 |
A |
G |
11: 53,354,220 (GRCm39) |
T47A |
probably benign |
Het |
Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
Stx1b |
A |
G |
7: 127,406,507 (GRCm39) |
S281P |
probably benign |
Het |
Tg |
A |
T |
15: 66,555,923 (GRCm39) |
I872F |
possibly damaging |
Het |
Ubqln3 |
C |
T |
7: 103,790,399 (GRCm39) |
A564T |
probably benign |
Het |
Vsnl1 |
T |
C |
12: 11,382,087 (GRCm39) |
E98G |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,624,822 (GRCm39) |
L1857P |
|
Het |
Wars1 |
C |
T |
12: 108,847,030 (GRCm39) |
E125K |
probably benign |
Het |
Wnt16 |
G |
A |
6: 22,291,049 (GRCm39) |
S159N |
probably benign |
Het |
Zcchc14 |
A |
G |
8: 122,330,912 (GRCm39) |
F817S |
probably damaging |
Het |
Zup1 |
A |
G |
10: 33,825,108 (GRCm39) |
S125P |
possibly 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 |
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 |
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'- CAAAAGAAGCCCCTGAGTTTTG -3'
(R):5'- ACTCATTCAAGCGTGACTCTG -3'
Sequencing Primer
(F):5'- ATTTCTGTTTTCATTTCATTGGATGC -3'
(R):5'- GCTTTTCTTCCAGAAACAATCCTACG -3'
|
Posted On |
2020-09-15 |