Incidental Mutation 'IGL01523:Krt84'
| ID |
89464 |
| 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 # |
IGL01523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101433461-101441255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101437179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 328
(V328E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023720]
|
| AlphaFold |
Q99M73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023720
AA Change: V328E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: V328E
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,320 (GRCm39) |
E246G |
probably damaging |
Het |
| B3galt5 |
T |
A |
16: 96,117,091 (GRCm39) |
D241E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,507 (GRCm39) |
F442L |
possibly damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,359,504 (GRCm39) |
E709V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,835,243 (GRCm39) |
I345V |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,124,270 (GRCm39) |
N183S |
probably damaging |
Het |
| Fam90a1b |
T |
C |
X: 93,400,365 (GRCm39) |
D155G |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,807,863 (GRCm39) |
S1394N |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,339 (GRCm39) |
Q166L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,007,763 (GRCm39) |
D99G |
probably null |
Het |
| Grin2b |
A |
T |
6: 136,021,263 (GRCm39) |
W13R |
probably null |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,024 (GRCm39) |
V127M |
probably benign |
Het |
| Hc |
C |
T |
2: 34,929,250 (GRCm39) |
M282I |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,461,876 (GRCm39) |
E57G |
probably damaging |
Het |
| Inpp5j |
C |
T |
11: 3,445,932 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
C |
A |
10: 103,053,977 (GRCm39) |
E247* |
probably null |
Het |
| Mmrn2 |
T |
A |
14: 34,125,174 (GRCm39) |
F918L |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,238,769 (GRCm39) |
E704G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,420,908 (GRCm39) |
N249K |
probably damaging |
Het |
| Nobox |
C |
A |
6: 43,281,057 (GRCm39) |
K472N |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,415 (GRCm39) |
T230S |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,807,236 (GRCm39) |
S232T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,580,903 (GRCm39) |
Y159N |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,700,012 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,272,999 (GRCm39) |
Q210R |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,123,954 (GRCm39) |
R905Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,785,327 (GRCm39) |
S683P |
possibly 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 |
|
IGL00227:Krt84
|
APN |
15 |
101,436,208 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01352:Krt84
|
APN |
15 |
101,437,209 (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 |
2013-12-03 |
Incidental Mutation