Incidental Mutation 'R4464:Krt86'
| ID |
330286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt86
|
| Ensembl Gene |
ENSMUSG00000067614 |
| Gene Name |
keratin 86 |
| Synonyms |
Khb4, Krt2-10, Krt2-11, MHb4 |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101371359-101377864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101371795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 122
(D122N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088049]
|
| AlphaFold |
P97861 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088049
AA Change: D122N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085365
Gene: ENSMUSG00000067614
AA Change: D122N
| 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 |
|
| Meta Mutation Damage Score |
0.6213 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCTGCAGCTCCCTACAG -3'
(R):5'- GTAGTCAGTTTGTACCCAGGAC -3'
Sequencing Primer
(F):5'- ATCTCCTGCTACCGAGGAC -3'
(R):5'- GACAGCCTGGCCACTTCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation