Incidental Mutation 'IGL01946:Krt23'
ID |
180958 |
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 # |
IGL01946
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99368799-99383946 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99383665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 76
(M76L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006969]
|
AlphaFold |
Q99PS0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006969
AA Change: M76L
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000006969 Gene: ENSMUSG00000006777 AA Change: M76L
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,227,734 (GRCm39) |
|
probably null |
Het |
Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably 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 |
|
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 |
2014-05-07 |