Incidental Mutation 'R4985:Krt86'
ID |
385852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt86
|
Ensembl Gene |
ENSMUSG00000067614 |
Gene Name |
keratin 86 |
Synonyms |
Khb4, Krt2-10, Krt2-11, MHb4 |
MMRRC Submission |
042579-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4985 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101371359-101377864 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101375146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 347
(E347V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088049]
|
AlphaFold |
P97861 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088049
AA Change: E347V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000085365 Gene: ENSMUSG00000067614 AA Change: E347V
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
|
Meta Mutation Damage Score |
0.7977 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (52/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
Ldb2 |
T |
A |
5: 44,637,645 (GRCm39) |
K221I |
probably damaging |
Het |
Lmntd2 |
A |
C |
7: 140,793,190 (GRCm39) |
S127R |
probably benign |
Het |
Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
Pcf11 |
T |
C |
7: 92,311,110 (GRCm39) |
T293A |
probably benign |
Het |
Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
Pip4k2c |
T |
C |
10: 127,035,244 (GRCm39) |
I375V |
probably benign |
Het |
Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
Rin3 |
A |
T |
12: 102,334,821 (GRCm39) |
D164V |
unknown |
Het |
Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTACTCAGTGCCACACAG -3'
(R):5'- GTGGTGATCTCAACGTCCAG -3'
Sequencing Primer
(F):5'- CCTACCATTTGTACAGCTGGG -3'
(R):5'- GCCCCAGCTTGGAGTTCATC -3'
|
Posted On |
2016-05-10 |