Incidental Mutation 'IGL00939:Krt86'
| ID |
278093 |
| 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 # |
IGL00939
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
A |
5: 35,981,359 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,942,543 (GRCm39) |
V2061A |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,521 (GRCm39) |
D194G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,971 (GRCm39) |
S1657T |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,210 (GRCm39) |
I279V |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,352,926 (GRCm39) |
S828P |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,272,952 (GRCm39) |
C193Y |
probably damaging |
Het |
| Nudt16l1 |
T |
C |
16: 4,757,299 (GRCm39) |
F71L |
probably benign |
Het |
| Nup50 |
T |
G |
15: 84,822,621 (GRCm39) |
L381* |
probably null |
Het |
| Pccb |
A |
G |
9: 100,867,922 (GRCm39) |
S372P |
probably damaging |
Het |
| Rnf19b |
A |
G |
4: 128,965,582 (GRCm39) |
R227G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,423 (GRCm39) |
I599V |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,191,174 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
A |
T |
5: 93,191,701 (GRCm39) |
D339E |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,939,280 (GRCm39) |
T572I |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,975,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,425 (GRCm39) |
Q34187R |
possibly damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,040,904 (GRCm39) |
E177G |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,015,227 (GRCm39) |
T456A |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,666 (GRCm39) |
T80A |
probably benign |
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 |
|
IGL00954: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 |
Incidental Mutation