Incidental Mutation 'IGL03077:Krt23'
| ID |
417743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt23
|
| Ensembl Gene |
ENSMUSG00000006777 |
| Gene Name |
keratin 23 |
| Synonyms |
K23, Krt1-23, CK23 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99368799-99383946 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 99374700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006969]
|
| AlphaFold |
Q99PS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006969
|
| SMART Domains |
Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
71 |
381 |
9.77e-116 |
SMART |
|
| 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 family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
| Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
Het |
|
| Other mutations in Krt23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Krt23
|
APN |
11 |
99,383,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01674:Krt23
|
APN |
11 |
99,377,593 (GRCm39) |
missense |
probably benign |
|
|
IGL01946:Krt23
|
APN |
11 |
99,383,665 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02097:Krt23
|
APN |
11 |
99,383,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02158:Krt23
|
APN |
11 |
99,383,490 (GRCm39) |
splice site |
probably benign |
|
|
R0302:Krt23
|
UTSW |
11 |
99,369,027 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0355:Krt23
|
UTSW |
11 |
99,376,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0450:Krt23
|
UTSW |
11 |
99,377,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Krt23
|
UTSW |
11 |
99,377,604 (GRCm39) |
missense |
probably benign |
|
|
R0469:Krt23
|
UTSW |
11 |
99,377,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Krt23
|
UTSW |
11 |
99,377,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0510:Krt23
|
UTSW |
11 |
99,377,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Krt23
|
UTSW |
11 |
99,369,045 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1729:Krt23
|
UTSW |
11 |
99,383,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Krt23
|
UTSW |
11 |
99,383,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Krt23
|
UTSW |
11 |
99,374,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2902:Krt23
|
UTSW |
11 |
99,374,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4059:Krt23
|
UTSW |
11 |
99,376,614 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4544:Krt23
|
UTSW |
11 |
99,369,102 (GRCm39) |
missense |
probably benign |
|
|
R5272:Krt23
|
UTSW |
11 |
99,369,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Krt23
|
UTSW |
11 |
99,376,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6190:Krt23
|
UTSW |
11 |
99,376,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6968:Krt23
|
UTSW |
11 |
99,371,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Krt23
|
UTSW |
11 |
99,374,682 (GRCm39) |
missense |
probably benign |
|
|
R7568:Krt23
|
UTSW |
11 |
99,383,626 (GRCm39) |
nonsense |
probably null |
|
|
R8367:Krt23
|
UTSW |
11 |
99,383,715 (GRCm39) |
nonsense |
probably null |
|
|
R8868:Krt23
|
UTSW |
11 |
99,374,567 (GRCm39) |
splice site |
probably benign |
|
|
R9124:Krt23
|
UTSW |
11 |
99,383,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Krt23
|
UTSW |
11 |
99,371,855 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Posted On |
2016-08-02 |
Incidental Mutation