Incidental Mutation 'IGL03236:Cwf19l1'
| ID |
414064 |
| 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: 0.787)
|
| Stock # |
IGL03236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44097076-44124315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44115887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 181
(I181V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026218]
|
| AlphaFold |
Q8CI33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026218
AA Change: I181V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: I181V
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
| Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
| Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
| Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
A |
G |
4: 147,966,562 (GRCm39) |
F543S |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
| Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
| Other mutations in Cwf19l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Cwf19l1
|
APN |
19 |
44,119,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation