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 |
Krt2-10, Khb4, Krt2-11, MHb4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101473478-101479986 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101475425 bp (GRCm38)
|
| 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: 30,797,936 (GRCm38) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,194,468 (GRCm38) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,711,838 (GRCm38) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,280,244 (GRCm38) |
N631S |
probably benign |
Het |
| Brat1 |
C |
T |
5: 140,717,177 (GRCm38) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,919,183 (GRCm38) |
|
probably null |
Het |
| D17Wsu92e |
A |
T |
17: 27,786,069 (GRCm38) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,163,037 (GRCm38) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,989,501 (GRCm38) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,952,370 (GRCm38) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 105,304,177 (GRCm38) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,938,658 (GRCm38) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 45,093,328 (GRCm38) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,331,524 (GRCm38) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,575,914 (GRCm38) |
L431F |
possibly damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,494,828 (GRCm38) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,099,931 (GRCm38) |
T79A |
probably benign |
Het |
| Pramef12 |
A |
T |
4: 144,393,094 (GRCm38) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 17,204,925 (GRCm38) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,711 (GRCm38) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,383,245 (GRCm38) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,111,303 (GRCm38) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,957,328 (GRCm38) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 72,731,105 (GRCm38) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,221,937 (GRCm38) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,687,111 (GRCm38) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,829,581 (GRCm38) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 153,002,889 (GRCm38) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 46,209,901 (GRCm38) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,521,356 (GRCm38) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 56,006,007 (GRCm38) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 57,865,589 (GRCm38) |
E101V |
probably damaging |
Het |
|
| Other mutations in Krt86 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Krt86
|
APN |
15 |
101,476,515 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL00597:Krt86
|
APN |
15 |
101,476,226 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00776:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00800:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00801:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00857:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00902:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00903:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00939:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00954:Krt86
|
APN |
15 |
101,473,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01638:Krt86
|
APN |
15 |
101,475,472 (GRCm38) |
splice site |
probably benign |
|
|
IGL02711:Krt86
|
APN |
15 |
101,473,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB009:Krt86
|
UTSW |
15 |
101,476,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB019:Krt86
|
UTSW |
15 |
101,476,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Krt86
|
UTSW |
15 |
101,477,402 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0193:Krt86
|
UTSW |
15 |
101,479,363 (GRCm38) |
splice site |
probably benign |
|
|
R0242:Krt86
|
UTSW |
15 |
101,476,573 (GRCm38) |
nonsense |
probably null |
|
|
R0242:Krt86
|
UTSW |
15 |
101,476,573 (GRCm38) |
nonsense |
probably null |
|
|
R0607:Krt86
|
UTSW |
15 |
101,479,531 (GRCm38) |
missense |
unknown |
|
|
R2139:Krt86
|
UTSW |
15 |
101,473,758 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4464:Krt86
|
UTSW |
15 |
101,473,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4985:Krt86
|
UTSW |
15 |
101,477,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5195:Krt86
|
UTSW |
15 |
101,476,933 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5587:Krt86
|
UTSW |
15 |
101,473,593 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5600:Krt86
|
UTSW |
15 |
101,476,505 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5729:Krt86
|
UTSW |
15 |
101,476,548 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5876:Krt86
|
UTSW |
15 |
101,476,610 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6169:Krt86
|
UTSW |
15 |
101,476,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6776:Krt86
|
UTSW |
15 |
101,476,936 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6990:Krt86
|
UTSW |
15 |
101,473,833 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7111:Krt86
|
UTSW |
15 |
101,476,617 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7932:Krt86
|
UTSW |
15 |
101,476,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8462:Krt86
|
UTSW |
15 |
101,479,403 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8956:Krt86
|
UTSW |
15 |
101,477,276 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1177:Krt86
|
UTSW |
15 |
101,476,897 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation