Incidental Mutation 'IGL01907:Krt24'
| ID |
179712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt24
|
| Ensembl Gene |
ENSMUSG00000020913 |
| Gene Name |
keratin 24 |
| Synonyms |
2310058N18Rik, 2310075C18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL01907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99170785-99176088 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99176030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 2
(F2L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017255]
|
| AlphaFold |
A1L317 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017255
AA Change: F2L
|
| SMART Domains |
Protein: ENSMUSP00000017255
Gene: ENSMUSG00000020913
AA Change: F2L
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
140 |
456 |
5.23e-157 |
SMART |
|
| 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, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1g1 |
T |
C |
8: 110,569,975 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
T |
4: 9,514,643 (GRCm39) |
D491E |
possibly damaging |
Het |
| Cyrib |
A |
G |
15: 63,803,535 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,915 (GRCm39) |
N47D |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,404,470 (GRCm39) |
V120A |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Grin2b |
T |
G |
6: 135,710,738 (GRCm39) |
E936A |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,863,131 (GRCm39) |
F528L |
probably damaging |
Het |
| Iyd |
C |
T |
10: 3,490,407 (GRCm39) |
P38S |
probably damaging |
Het |
| Mnat1 |
T |
A |
12: 73,319,213 (GRCm39) |
S279T |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,160,212 (GRCm39) |
I173L |
probably benign |
Het |
| Or9g20 |
T |
A |
2: 85,629,946 (GRCm39) |
T223S |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,996,425 (GRCm39) |
S810P |
probably benign |
Het |
| Racgap1 |
T |
A |
15: 99,524,214 (GRCm39) |
K398* |
probably null |
Het |
| Rnf133 |
T |
C |
6: 23,649,303 (GRCm39) |
N209D |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,730 (GRCm39) |
E794G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,699,346 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,429,794 (GRCm39) |
T465A |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,675,865 (GRCm39) |
M1035T |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,129,743 (GRCm39) |
N445D |
probably damaging |
Het |
| Stard3nl |
G |
A |
13: 19,556,759 (GRCm39) |
A127V |
probably damaging |
Het |
| Trim69 |
C |
T |
2: 121,998,142 (GRCm39) |
T38M |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp438 |
G |
A |
18: 5,213,815 (GRCm39) |
A381V |
probably damaging |
Het |
|
| Other mutations in Krt24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0128:Krt24
|
UTSW |
11 |
99,171,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0561:Krt24
|
UTSW |
11 |
99,175,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Krt24
|
UTSW |
11 |
99,175,444 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2018:Krt24
|
UTSW |
11 |
99,173,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Krt24
|
UTSW |
11 |
99,175,456 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3114:Krt24
|
UTSW |
11 |
99,173,262 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3115:Krt24
|
UTSW |
11 |
99,173,262 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3116:Krt24
|
UTSW |
11 |
99,173,262 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3979:Krt24
|
UTSW |
11 |
99,173,596 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4805:Krt24
|
UTSW |
11 |
99,174,452 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5347:Krt24
|
UTSW |
11 |
99,173,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Krt24
|
UTSW |
11 |
99,175,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8369:Krt24
|
UTSW |
11 |
99,173,534 (GRCm39) |
nonsense |
probably null |
|
|
R9587:Krt24
|
UTSW |
11 |
99,174,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Krt24
|
UTSW |
11 |
99,171,859 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Krt24
|
UTSW |
11 |
99,175,712 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation