Incidental Mutation 'R9196:Krt23'
ID |
697955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt23
|
Ensembl Gene |
ENSMUSG00000006777 |
Gene Name |
keratin 23 |
Synonyms |
K23, Krt1-23, CK23 |
MMRRC Submission |
068955-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R9196 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
99368799-99383946 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99371855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 332
(I332N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006969]
|
AlphaFold |
Q99PS0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006969
AA Change: I332N
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000006969 Gene: ENSMUSG00000006777 AA Change: I332N
Domain | Start | End | E-Value | Type |
Filament
|
71 |
381 |
9.77e-116 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
92% (35/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,605,644 (GRCm39) |
L176P |
probably benign |
Het |
Abtb2 |
A |
T |
2: 103,513,647 (GRCm39) |
H352L |
possibly damaging |
Het |
Adgrf5 |
T |
C |
17: 43,755,995 (GRCm39) |
V651A |
possibly damaging |
Het |
Cc2d1b |
T |
A |
4: 108,485,134 (GRCm39) |
L519Q |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cenpn |
G |
A |
8: 117,658,344 (GRCm39) |
D97N |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,873,753 (GRCm39) |
C576R |
probably benign |
Het |
Col8a1 |
A |
T |
16: 57,447,730 (GRCm39) |
D593E |
unknown |
Het |
Dsel |
C |
T |
1: 111,787,863 (GRCm39) |
E891K |
probably benign |
Het |
Duox1 |
T |
C |
2: 122,150,689 (GRCm39) |
Y255H |
probably benign |
Het |
Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
Hepacam |
A |
T |
9: 37,279,052 (GRCm39) |
Q27L |
probably benign |
Het |
Hibadh |
C |
T |
6: 52,525,865 (GRCm39) |
V262I |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,771,962 (GRCm39) |
D227V |
probably damaging |
Het |
Inpp1 |
A |
G |
1: 52,833,778 (GRCm39) |
L106P |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
Jmy |
T |
A |
13: 93,601,209 (GRCm39) |
D399V |
probably damaging |
Het |
Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
Myo10 |
T |
A |
15: 25,805,716 (GRCm39) |
I1699N |
probably damaging |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,455,316 (GRCm39) |
Q439R |
probably benign |
Het |
Pcbp3 |
A |
G |
10: 76,621,003 (GRCm39) |
S216P |
probably damaging |
Het |
Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
Reln |
A |
C |
5: 22,357,471 (GRCm39) |
S198R |
probably damaging |
Het |
Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
Skic2 |
T |
C |
17: 35,068,877 (GRCm39) |
S41G |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
Trpc4 |
A |
G |
3: 54,129,872 (GRCm39) |
S213G |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,078,613 (GRCm39) |
I1593V |
probably benign |
Het |
Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
Xrra1 |
T |
C |
7: 99,563,699 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
T |
A |
18: 44,988,464 (GRCm39) |
F717L |
probably damaging |
Het |
Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
Het |
Zfp764l1 |
T |
C |
7: 126,990,761 (GRCm39) |
T409A |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTCACCATGGCTGAGACC -3'
(R):5'- GCATCACCCACAATGCCTTG -3'
Sequencing Primer
(F):5'- ACAGGAGTGTCACGTCCAG -3'
(R):5'- ACAATGCCTTGCGGAGAGGTC -3'
|
Posted On |
2022-02-07 |