Incidental Mutation 'IGL01107:Krt86'
ID |
52805 |
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: 0.057)
|
Stock # |
IGL01107
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101371359-101377864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101373306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 200
(L200Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088049]
|
AlphaFold |
P97861 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088049
AA Change: L200Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000085365 Gene: ENSMUSG00000067614 AA Change: L200Q
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230173
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
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 |
IGL00954:Krt86
|
APN |
15 |
101,371,741 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-06-21 |