Incidental Mutation 'IGL00227:Krt84'
| ID |
2118 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt84
|
| Ensembl Gene |
ENSMUSG00000044294 |
| Gene Name |
keratin 84 |
| Synonyms |
Krt2-16, Krt2-3, HRb-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
IGL00227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101433461-101441255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101436208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 460
(M460I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023720]
|
| AlphaFold |
Q99M73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023720
AA Change: M460I
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: M460I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
169 |
3.9e-39 |
PFAM |
|
Filament
|
172 |
483 |
4.05e-163 |
SMART |
|
low complexity region
|
535 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229893
|
| Coding Region Coverage |
|
| 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 is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
| Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
| Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
| Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
| Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
C |
T |
10: 24,158,491 (GRCm39) |
H382Y |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,511 (GRCm39) |
T311S |
probably damaging |
Het |
| Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
| Pbk |
T |
C |
14: 66,051,340 (GRCm39) |
I126T |
probably damaging |
Het |
| Pde1b |
C |
T |
15: 103,435,107 (GRCm39) |
S400F |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
| Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
| Relb |
A |
C |
7: 19,356,849 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
| St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
probably damaging |
Het |
|
| Other mutations in Krt84 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Krt84
|
APN |
15 |
101,437,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Krt84
|
APN |
15 |
101,437,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Krt84
|
APN |
15 |
101,437,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Krt84
|
APN |
15 |
101,436,915 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01874:Krt84
|
APN |
15 |
101,436,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02044:Krt84
|
APN |
15 |
101,436,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Krt84
|
APN |
15 |
101,440,791 (GRCm39) |
missense |
unknown |
|
|
IGL02455:Krt84
|
APN |
15 |
101,434,170 (GRCm39) |
missense |
unknown |
|
|
IGL03023:Krt84
|
APN |
15 |
101,436,880 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0102:Krt84
|
UTSW |
15 |
101,437,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0102:Krt84
|
UTSW |
15 |
101,437,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Krt84
|
UTSW |
15 |
101,438,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Krt84
|
UTSW |
15 |
101,437,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Krt84
|
UTSW |
15 |
101,441,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1500:Krt84
|
UTSW |
15 |
101,438,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1647:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1650:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1651:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1652:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1731:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1999:Krt84
|
UTSW |
15 |
101,438,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2106:Krt84
|
UTSW |
15 |
101,439,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Krt84
|
UTSW |
15 |
101,438,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2212:Krt84
|
UTSW |
15 |
101,440,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2397:Krt84
|
UTSW |
15 |
101,438,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4722:Krt84
|
UTSW |
15 |
101,436,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Krt84
|
UTSW |
15 |
101,438,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5634:Krt84
|
UTSW |
15 |
101,437,084 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5807:Krt84
|
UTSW |
15 |
101,438,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Krt84
|
UTSW |
15 |
101,438,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Krt84
|
UTSW |
15 |
101,441,187 (GRCm39) |
missense |
unknown |
|
|
R7032:Krt84
|
UTSW |
15 |
101,436,924 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7155:Krt84
|
UTSW |
15 |
101,440,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Krt84
|
UTSW |
15 |
101,438,044 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Krt84
|
UTSW |
15 |
101,436,826 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8492:Krt84
|
UTSW |
15 |
101,438,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Krt84
|
UTSW |
15 |
101,437,221 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8944:Krt84
|
UTSW |
15 |
101,437,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9076:Krt84
|
UTSW |
15 |
101,438,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9081:Krt84
|
UTSW |
15 |
101,440,814 (GRCm39) |
missense |
unknown |
|
|
R9082:Krt84
|
UTSW |
15 |
101,440,814 (GRCm39) |
missense |
unknown |
|
|
R9141:Krt84
|
UTSW |
15 |
101,440,974 (GRCm39) |
missense |
probably benign |
|
|
R9535:Krt84
|
UTSW |
15 |
101,438,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Krt84
|
UTSW |
15 |
101,434,417 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation