Incidental Mutation 'IGL02816:Krt25'
| ID |
360810 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt25
|
| Ensembl Gene |
ENSMUSG00000035831 |
| Gene Name |
keratin 25 |
| Synonyms |
4631426H08Rik, mIRSa1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL02816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99206342-99213777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99208977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 284
(D284E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038004]
|
| AlphaFold |
Q8VCW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038004
AA Change: D284E
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: D284E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
52 |
N/A |
INTRINSIC |
|
Filament
|
74 |
389 |
4.13e-146 |
SMART |
|
low complexity region
|
391 |
403 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Caskin1 |
C |
A |
17: 24,721,144 (GRCm39) |
P495T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,087 (GRCm39) |
C41R |
probably damaging |
Het |
| Etfdh |
G |
A |
3: 79,530,112 (GRCm39) |
T52M |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,510,497 (GRCm39) |
T386A |
possibly damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,260,830 (GRCm39) |
|
probably benign |
Het |
| Map1b |
T |
C |
13: 99,578,263 (GRCm39) |
D130G |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,446,608 (GRCm39) |
F785I |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Numa1 |
T |
A |
7: 101,645,307 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,489 (GRCm39) |
C4010R |
probably benign |
Het |
| Prph |
A |
G |
15: 98,955,301 (GRCm39) |
M423V |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,052 (GRCm39) |
|
probably benign |
Het |
| Ribc2 |
T |
G |
15: 85,017,106 (GRCm39) |
V48G |
probably damaging |
Het |
| Scyl1 |
A |
T |
19: 5,820,410 (GRCm39) |
N141K |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,025,331 (GRCm39) |
M497L |
probably benign |
Het |
| Strada |
C |
T |
11: 106,055,251 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
A |
T |
6: 42,192,539 (GRCm39) |
Y93F |
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,679,530 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
G |
3: 36,705,851 (GRCm39) |
F448S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,439,415 (GRCm39) |
I113T |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,769 (GRCm39) |
|
probably benign |
Het |
| Ttll13 |
G |
T |
7: 79,902,842 (GRCm39) |
C170F |
possibly damaging |
Het |
| Yes1 |
C |
T |
5: 32,802,451 (GRCm39) |
T122M |
probably damaging |
Het |
|
| Other mutations in Krt25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Krt25
|
APN |
11 |
99,208,996 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02415:Krt25
|
APN |
11 |
99,213,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Plush
|
UTSW |
11 |
99,213,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sinuous
|
UTSW |
11 |
99,213,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0138:Krt25
|
UTSW |
11 |
99,213,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Krt25
|
UTSW |
11 |
99,208,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0932:Krt25
|
UTSW |
11 |
99,212,109 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1733:Krt25
|
UTSW |
11 |
99,207,378 (GRCm39) |
nonsense |
probably null |
|
|
R1855:Krt25
|
UTSW |
11 |
99,209,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Krt25
|
UTSW |
11 |
99,212,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2504:Krt25
|
UTSW |
11 |
99,208,122 (GRCm39) |
nonsense |
probably null |
|
|
R3615:Krt25
|
UTSW |
11 |
99,208,124 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3616:Krt25
|
UTSW |
11 |
99,208,124 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4590:Krt25
|
UTSW |
11 |
99,208,854 (GRCm39) |
intron |
probably benign |
|
|
R6250:Krt25
|
UTSW |
11 |
99,211,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Krt25
|
UTSW |
11 |
99,208,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Krt25
|
UTSW |
11 |
99,208,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Krt25
|
UTSW |
11 |
99,208,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Krt25
|
UTSW |
11 |
99,212,098 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7360:Krt25
|
UTSW |
11 |
99,208,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Krt25
|
UTSW |
11 |
99,208,169 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8090:Krt25
|
UTSW |
11 |
99,207,416 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8933:Krt25
|
UTSW |
11 |
99,212,064 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8995:Krt25
|
UTSW |
11 |
99,207,382 (GRCm39) |
missense |
probably benign |
|
|
R9040:Krt25
|
UTSW |
11 |
99,207,379 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Krt25
|
UTSW |
11 |
99,213,648 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2015-12-18 |
Incidental Mutation