Incidental Mutation 'IGL00954:Krt86'
ID |
278114 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt86
|
Ensembl Gene |
ENSMUSG00000067614 |
Gene Name |
keratin 86 |
Synonyms |
Khb4, Krt2-10, Krt2-11, MHb4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL00954
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101371359-101377864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101371741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 104
(H104Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088049]
|
AlphaFold |
P97861 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088049
AA Change: H104Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000085365 Gene: ENSMUSG00000067614 AA Change: H104Y
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
2 |
102 |
4.6e-15 |
PFAM |
Filament
|
105 |
416 |
6.92e-148 |
SMART |
low complexity region
|
420 |
438 |
N/A |
INTRINSIC |
low complexity region
|
469 |
486 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
Other mutations in Krt86 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Krt86
|
APN |
15 |
101,374,396 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL00597:Krt86
|
APN |
15 |
101,374,107 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00776:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00800:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00801:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00857:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00902:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00903:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00939:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01107:Krt86
|
APN |
15 |
101,373,306 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01638:Krt86
|
APN |
15 |
101,373,353 (GRCm39) |
splice site |
probably benign |
|
IGL02711:Krt86
|
APN |
15 |
101,371,543 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Krt86
|
UTSW |
15 |
101,374,473 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Krt86
|
UTSW |
15 |
101,374,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Krt86
|
UTSW |
15 |
101,375,283 (GRCm39) |
missense |
probably benign |
0.00 |
R0193:Krt86
|
UTSW |
15 |
101,377,244 (GRCm39) |
splice site |
probably benign |
|
R0242:Krt86
|
UTSW |
15 |
101,374,454 (GRCm39) |
nonsense |
probably null |
|
R0242:Krt86
|
UTSW |
15 |
101,374,454 (GRCm39) |
nonsense |
probably null |
|
R0607:Krt86
|
UTSW |
15 |
101,377,412 (GRCm39) |
missense |
unknown |
|
R2139:Krt86
|
UTSW |
15 |
101,371,639 (GRCm39) |
missense |
probably benign |
0.11 |
R4464:Krt86
|
UTSW |
15 |
101,371,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R4985:Krt86
|
UTSW |
15 |
101,375,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R5195:Krt86
|
UTSW |
15 |
101,374,814 (GRCm39) |
missense |
probably benign |
0.10 |
R5587:Krt86
|
UTSW |
15 |
101,371,474 (GRCm39) |
missense |
probably benign |
0.01 |
R5600:Krt86
|
UTSW |
15 |
101,374,386 (GRCm39) |
missense |
probably benign |
0.00 |
R5729:Krt86
|
UTSW |
15 |
101,374,429 (GRCm39) |
missense |
probably benign |
0.18 |
R5876:Krt86
|
UTSW |
15 |
101,374,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R6169:Krt86
|
UTSW |
15 |
101,374,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R6776:Krt86
|
UTSW |
15 |
101,374,817 (GRCm39) |
missense |
probably benign |
0.29 |
R6990:Krt86
|
UTSW |
15 |
101,371,714 (GRCm39) |
missense |
probably benign |
0.03 |
R7111:Krt86
|
UTSW |
15 |
101,374,498 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7932:Krt86
|
UTSW |
15 |
101,374,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R8462:Krt86
|
UTSW |
15 |
101,377,284 (GRCm39) |
missense |
probably benign |
0.00 |
R8956:Krt86
|
UTSW |
15 |
101,375,157 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Krt86
|
UTSW |
15 |
101,374,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |