Incidental Mutation 'R2901:Krt23'
| ID |
261477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt23
|
| Ensembl Gene |
ENSMUSG00000006777 |
| Gene Name |
keratin 23 |
| Synonyms |
K23, Krt1-23, CK23 |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99368799-99383946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99374797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 260
(D260G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006969]
|
| AlphaFold |
Q99PS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006969
AA Change: D260G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: D260G
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
71 |
381 |
9.77e-116 |
SMART |
|
| Meta Mutation Damage Score |
0.3189 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATCTCTAGGGCCTGGAATG -3'
(R):5'- CCATCCTTCTGATTGTCACGGG -3'
Sequencing Primer
(F):5'- AATCTCTAGGGCCTGGAATGTTCTC -3'
(R):5'- TGATTGTCACGGGCCAATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation