Incidental Mutation 'IGL00923:Cwf19l1'
ID |
29504 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cwf19l1
|
Ensembl Gene |
ENSMUSG00000025200 |
Gene Name |
CWF19 like cell cycle control factor 1 |
Synonyms |
2610528C06Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
IGL00923
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44097076-44124315 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 44119849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026218
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026218]
|
AlphaFold |
Q8CI33 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026218
|
SMART Domains |
Protein: ENSMUSP00000026218 Gene: ENSMUSG00000025200
Domain | Start | End | E-Value | Type |
Pfam:CwfJ_C_1
|
314 |
433 |
5.6e-37 |
PFAM |
Pfam:CwfJ_C_2
|
439 |
534 |
2.1e-19 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
A |
5: 89,832,235 (GRCm39) |
E956V |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,915 (GRCm39) |
G1071E |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,530,410 (GRCm39) |
V5888D |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,931,920 (GRCm39) |
T189I |
probably damaging |
Het |
Cp |
T |
C |
3: 20,024,165 (GRCm39) |
L335P |
probably damaging |
Het |
Dgki |
A |
T |
6: 36,839,391 (GRCm39) |
N933K |
probably benign |
Het |
Dixdc1 |
G |
T |
9: 50,579,033 (GRCm39) |
A660D |
probably damaging |
Het |
Dnajc9 |
T |
C |
14: 20,435,515 (GRCm39) |
D232G |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,844,504 (GRCm39) |
|
probably benign |
Het |
Elp6 |
A |
T |
9: 110,139,193 (GRCm39) |
T29S |
probably damaging |
Het |
Fam8a1 |
T |
C |
13: 46,827,147 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,145,397 (GRCm39) |
D2746E |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,815,348 (GRCm39) |
N737K |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,386,285 (GRCm39) |
V737A |
possibly damaging |
Het |
Ndrg1 |
A |
T |
15: 66,814,959 (GRCm39) |
N164K |
probably damaging |
Het |
Nrtn |
A |
G |
17: 57,059,447 (GRCm39) |
S11P |
probably damaging |
Het |
Or4c11c |
T |
G |
2: 88,661,456 (GRCm39) |
|
probably null |
Het |
Or4f62 |
T |
A |
2: 111,987,122 (GRCm39) |
D275E |
possibly damaging |
Het |
Rab10 |
T |
A |
12: 3,303,334 (GRCm39) |
M118L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,295,669 (GRCm39) |
V175A |
probably benign |
Het |
Tex21 |
T |
A |
12: 76,291,885 (GRCm39) |
D12V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
Vmn1r215 |
G |
A |
13: 23,260,419 (GRCm39) |
G153D |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,163,617 (GRCm39) |
D612G |
unknown |
Het |
Zfp354c |
A |
T |
11: 50,706,440 (GRCm39) |
Y212N |
probably damaging |
Het |
Zmiz2 |
T |
A |
11: 6,352,845 (GRCm39) |
M631K |
probably damaging |
Het |
|
Other mutations in Cwf19l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01691:Cwf19l1
|
APN |
19 |
44,109,311 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02427:Cwf19l1
|
APN |
19 |
44,121,462 (GRCm39) |
nonsense |
probably null |
|
IGL03234:Cwf19l1
|
APN |
19 |
44,115,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03236:Cwf19l1
|
APN |
19 |
44,115,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03275:Cwf19l1
|
APN |
19 |
44,111,696 (GRCm39) |
missense |
probably benign |
0.10 |
R0068:Cwf19l1
|
UTSW |
19 |
44,119,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R0068:Cwf19l1
|
UTSW |
19 |
44,119,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R0486:Cwf19l1
|
UTSW |
19 |
44,103,129 (GRCm39) |
missense |
probably benign |
0.35 |
R1820:Cwf19l1
|
UTSW |
19 |
44,115,826 (GRCm39) |
missense |
probably benign |
0.00 |
R2317:Cwf19l1
|
UTSW |
19 |
44,120,597 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2418:Cwf19l1
|
UTSW |
19 |
44,119,911 (GRCm39) |
missense |
probably benign |
|
R2438:Cwf19l1
|
UTSW |
19 |
44,099,002 (GRCm39) |
missense |
probably benign |
0.00 |
R3796:Cwf19l1
|
UTSW |
19 |
44,103,006 (GRCm39) |
missense |
probably damaging |
0.97 |
R3850:Cwf19l1
|
UTSW |
19 |
44,119,937 (GRCm39) |
missense |
probably benign |
0.24 |
R4518:Cwf19l1
|
UTSW |
19 |
44,121,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R4855:Cwf19l1
|
UTSW |
19 |
44,103,006 (GRCm39) |
missense |
probably damaging |
0.97 |
R5402:Cwf19l1
|
UTSW |
19 |
44,121,524 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5587:Cwf19l1
|
UTSW |
19 |
44,109,316 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5785:Cwf19l1
|
UTSW |
19 |
44,110,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R6354:Cwf19l1
|
UTSW |
19 |
44,115,912 (GRCm39) |
missense |
probably benign |
0.10 |
R6652:Cwf19l1
|
UTSW |
19 |
44,103,138 (GRCm39) |
missense |
probably benign |
0.11 |
R7365:Cwf19l1
|
UTSW |
19 |
44,120,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Cwf19l1
|
UTSW |
19 |
44,098,989 (GRCm39) |
missense |
probably benign |
0.18 |
R7562:Cwf19l1
|
UTSW |
19 |
44,117,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Cwf19l1
|
UTSW |
19 |
44,111,653 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9068:Cwf19l1
|
UTSW |
19 |
44,124,274 (GRCm39) |
unclassified |
probably benign |
|
R9235:Cwf19l1
|
UTSW |
19 |
44,113,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Cwf19l1
|
UTSW |
19 |
44,101,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |