Incidental Mutation 'R6036:Krt83'
| ID |
479234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt83
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 83 |
| Synonyms |
Krt2-25 |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101485131-101491512 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 101487531 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 320
(I320S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023718
AA Change: I320S
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: I320S
| 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: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
T |
C |
11: 95,832,858 (GRCm38) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,443,228 (GRCm38) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 81,093,257 (GRCm38) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,982,265 (GRCm38) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 44,098,831 (GRCm38) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,913,008 (GRCm38) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,401,335 (GRCm38) |
M67L |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,395,282 (GRCm38) |
T417A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,239,420 (GRCm38) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,856,005 (GRCm38) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,014,322 (GRCm38) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,184,996 (GRCm38) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,843,593 (GRCm38) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm38) |
I221L |
probably benign |
Het |
| H2bc13 |
A |
T |
13: 21,715,978 (GRCm38) |
S56T |
probably damaging |
Het |
| Hc |
T |
C |
2: 35,039,684 (GRCm38) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,068,053 (GRCm38) |
T48A |
probably benign |
Het |
| Hp |
A |
G |
8: 109,576,774 (GRCm38) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,558,073 (GRCm38) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,397,125 (GRCm38) |
M262L |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,242,727 (GRCm38) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,128,411 (GRCm38) |
T451A |
probably benign |
Het |
| Or2ag2b |
A |
T |
7: 106,818,460 (GRCm38) |
I126F |
probably damaging |
Het |
| Or4g7 |
T |
C |
2: 111,478,988 (GRCm38) |
L68P |
probably damaging |
Het |
| Or4k35 |
C |
T |
2: 111,269,612 (GRCm38) |
G252R |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,724,485 (GRCm38) |
I2F |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,930,920 (GRCm38) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,305,209 (GRCm38) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,114,948 (GRCm38) |
Q494* |
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm38) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 78,435,474 (GRCm38) |
S167T |
probably damaging |
Het |
| Scd4 |
G |
A |
19: 44,344,792 (GRCm38) |
D319N |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 22,028,558 (GRCm38) |
R279* |
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,813,984 (GRCm38) |
G137D |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,524,621 (GRCm38) |
P261S |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,673,570 (GRCm38) |
D151V |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,738,437 (GRCm38) |
|
probably null |
Het |
| Stard9 |
C |
T |
2: 120,700,075 (GRCm38) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,655,444 (GRCm38) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 145,268,869 (GRCm38) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,711,366 (GRCm38) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 78,325,576 (GRCm38) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,940,162 (GRCm38) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,086 (GRCm38) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,633,903 (GRCm38) |
Q87R |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 33,146,990 (GRCm38) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,963,568 (GRCm38) |
Y521H |
probably damaging |
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 |
|
|
R2568:Krt83
|
UTSW |
15 |
101,487,827 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation