Incidental Mutation 'IGL02188:Krt26'
ID |
283733 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt26
|
Ensembl Gene |
ENSMUSG00000075570 |
Gene Name |
keratin 26 |
Synonyms |
4732407F15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL02188
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99219376-99228792 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99224471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 349
(R349Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100482]
|
AlphaFold |
Q3TRJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100482
AA Change: R349Q
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098051 Gene: ENSMUSG00000075570 AA Change: R349Q
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
F13a1 |
A |
G |
13: 37,090,035 (GRCm39) |
|
probably benign |
Het |
Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |