Incidental Mutation 'R2568:Krt83'
| ID |
254659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt83
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 83 |
| Synonyms |
Krt2-25 |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101485131-101491512 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101487827 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 296
(R296S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023718
AA Change: R296S
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: R296S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
2 |
100 |
5.9e-16 |
PFAM |
|
Filament
|
103 |
414 |
7.02e-149 |
SMART |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230173
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,201,269 (GRCm38) |
V1010A |
possibly damaging |
Het |
| 4930563D23Rik |
A |
G |
16: 92,321,319 (GRCm38) |
L27P |
probably damaging |
Het |
| A730071L15Rik |
A |
T |
11: 6,200,161 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,333,310 (GRCm38) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,437,671 (GRCm38) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,934,021 (GRCm38) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 124,556,955 (GRCm38) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,887,278 (GRCm38) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,404,871 (GRCm38) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,392,749 (GRCm38) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,082,511 (GRCm38) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm38) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,878,764 (GRCm38) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,063,076 (GRCm38) |
D1218E |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 24,883,891 (GRCm38) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,248,152 (GRCm38) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 110,097,195 (GRCm38) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,710,184 (GRCm38) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,530,129 (GRCm38) |
S528T |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,582,931 (GRCm38) |
N172I |
probably damaging |
Het |
| Fam102b |
T |
A |
3: 108,978,848 (GRCm38) |
N356I |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,935,609 (GRCm38) |
R686S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,836,259 (GRCm38) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,828,372 (GRCm38) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,268,764 (GRCm38) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,990,431 (GRCm38) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,942,090 (GRCm38) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,367,322 (GRCm38) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,091,350 (GRCm38) |
S545P |
probably damaging |
Het |
| Llgl1 |
T |
G |
11: 60,708,812 (GRCm38) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,363,964 (GRCm38) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 84,726,649 (GRCm38) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,494,785 (GRCm38) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,722,018 (GRCm38) |
N394S |
probably null |
Het |
| Myo5a |
T |
C |
9: 75,151,897 (GRCm38) |
V469A |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,123,040 (GRCm38) |
Y147C |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,337,216 (GRCm38) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,597,564 (GRCm38) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Olfr181 |
A |
G |
16: 58,925,923 (GRCm38) |
V216A |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,974 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr677 |
A |
G |
7: 105,056,671 (GRCm38) |
T142A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,575,092 (GRCm38) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,693,800 (GRCm38) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,665,752 (GRCm38) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,675,874 (GRCm38) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,273,469 (GRCm38) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,615,648 (GRCm38) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,458,880 (GRCm38) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 45,795,370 (GRCm38) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,180,999 (GRCm38) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,951,565 (GRCm38) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,553,130 (GRCm38) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,772,820 (GRCm38) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,269,164 (GRCm38) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,843,369 (GRCm38) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,327,638 (GRCm38) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,776,971 (GRCm38) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,742,188 (GRCm38) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,279,238 (GRCm38) |
S125T |
probably benign |
Het |
|
| Other mutations in Krt83 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Krt83
|
APN |
15 |
101,488,211 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01315:Krt83
|
APN |
15 |
101,486,967 (GRCm38) |
splice site |
probably benign |
|
|
IGL01702:Krt83
|
APN |
15 |
101,491,218 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02123:Krt83
|
APN |
15 |
101,487,585 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02353:Krt83
|
APN |
15 |
101,485,458 (GRCm38) |
missense |
probably benign |
|
|
IGL02360:Krt83
|
APN |
15 |
101,485,458 (GRCm38) |
missense |
probably benign |
|
|
IGL02395:Krt83
|
APN |
15 |
101,487,952 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL02633:Krt83
|
APN |
15 |
101,491,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0357:Krt83
|
UTSW |
15 |
101,487,019 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0650:Krt83
|
UTSW |
15 |
101,487,040 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0928:Krt83
|
UTSW |
15 |
101,491,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1126:Krt83
|
UTSW |
15 |
101,487,482 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1196:Krt83
|
UTSW |
15 |
101,491,433 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1252:Krt83
|
UTSW |
15 |
101,487,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1513:Krt83
|
UTSW |
15 |
101,489,657 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1612:Krt83
|
UTSW |
15 |
101,488,211 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1870:Krt83
|
UTSW |
15 |
101,487,190 (GRCm38) |
missense |
probably benign |
|
|
R2173:Krt83
|
UTSW |
15 |
101,487,937 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2432:Krt83
|
UTSW |
15 |
101,488,156 (GRCm38) |
nonsense |
probably null |
|
|
R2696:Krt83
|
UTSW |
15 |
101,487,009 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3508:Krt83
|
UTSW |
15 |
101,488,158 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4364:Krt83
|
UTSW |
15 |
101,487,514 (GRCm38) |
missense |
probably benign |
|
|
R4366:Krt83
|
UTSW |
15 |
101,487,514 (GRCm38) |
missense |
probably benign |
|
|
R4606:Krt83
|
UTSW |
15 |
101,487,049 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4721:Krt83
|
UTSW |
15 |
101,487,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4784:Krt83
|
UTSW |
15 |
101,487,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4987:Krt83
|
UTSW |
15 |
101,487,009 (GRCm38) |
missense |
probably benign |
|
|
R5008:Krt83
|
UTSW |
15 |
101,491,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5101:Krt83
|
UTSW |
15 |
101,487,510 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5367:Krt83
|
UTSW |
15 |
101,486,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5516:Krt83
|
UTSW |
15 |
101,487,121 (GRCm38) |
nonsense |
probably null |
|
|
R5949:Krt83
|
UTSW |
15 |
101,487,595 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5972:Krt83
|
UTSW |
15 |
101,487,586 (GRCm38) |
missense |
probably benign |
|
|
R6036:Krt83
|
UTSW |
15 |
101,487,531 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6036:Krt83
|
UTSW |
15 |
101,487,531 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6135:Krt83
|
UTSW |
15 |
101,487,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7151:Krt83
|
UTSW |
15 |
101,489,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7186:Krt83
|
UTSW |
15 |
101,487,202 (GRCm38) |
splice site |
probably null |
|
|
R7297:Krt83
|
UTSW |
15 |
101,489,647 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7708:Krt83
|
UTSW |
15 |
101,487,932 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7796:Krt83
|
UTSW |
15 |
101,485,984 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8172:Krt83
|
UTSW |
15 |
101,485,403 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8669:Krt83
|
UTSW |
15 |
101,487,896 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8771:Krt83
|
UTSW |
15 |
101,487,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9478:Krt83
|
UTSW |
15 |
101,487,568 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9592:Krt83
|
UTSW |
15 |
101,488,179 (GRCm38) |
missense |
probably benign |
|
|
R9629:Krt83
|
UTSW |
15 |
101,491,167 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9642:Krt83
|
UTSW |
15 |
101,487,193 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACATCAACCCAGTGAGC -3'
(R):5'- TCCGTGACTGTGAAGTCCTG -3'
Sequencing Primer
(F):5'- TCAACCCAGTGAGCACAATG -3'
(R):5'- GTTAGGCTGAGCTTTCAAGAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation