Incidental Mutation 'IGL00327:Krt23'
| ID |
4501 |
| 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: 0.063)
|
| Stock # |
IGL00327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99368799-99383946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99383610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 94
(E94G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006969]
|
| AlphaFold |
Q99PS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006969
AA Change: E94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: E94G
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
A |
G |
7: 100,949,367 (GRCm39) |
L60S |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,033,390 (GRCm39) |
E267G |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,116,764 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,074,670 (GRCm39) |
Y484H |
probably benign |
Het |
| Colq |
C |
T |
14: 31,257,545 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,431,867 (GRCm39) |
D1242G |
possibly damaging |
Het |
| Dclre1c |
T |
A |
2: 3,434,821 (GRCm39) |
L95* |
probably null |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krt6b |
T |
G |
15: 101,588,267 (GRCm39) |
Q131P |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,926,265 (GRCm39) |
L414P |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,793,920 (GRCm39) |
M328K |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,197 (GRCm39) |
L22F |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,242,514 (GRCm39) |
D388G |
probably damaging |
Het |
| Mrpl44 |
C |
T |
1: 79,758,721 (GRCm39) |
L290F |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,421 (GRCm39) |
H160R |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,773,030 (GRCm39) |
N109S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,040,700 (GRCm39) |
T553A |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,174 (GRCm39) |
T894K |
probably benign |
Het |
| Scgb2b27 |
A |
G |
7: 33,712,771 (GRCm39) |
C24R |
probably damaging |
Het |
| Sipa1l3 |
G |
T |
7: 29,053,558 (GRCm39) |
H140N |
probably damaging |
Het |
| Slc22a23 |
T |
G |
13: 34,489,228 (GRCm39) |
D219A |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 20,005,158 (GRCm39) |
Y557C |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,854,851 (GRCm39) |
I600N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,503,643 (GRCm39) |
N190S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,299,447 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,082,512 (GRCm39) |
V501A |
probably benign |
Het |
|
| Other mutations in Krt23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL03077:Krt23
|
APN |
11 |
99,374,700 (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 |
2012-04-20 |
Incidental Mutation