Incidental Mutation 'IGL01691:Cwf19l1'
| ID |
104125 |
| 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 # |
IGL01691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44097076-44124315 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 44109311 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
| Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
| Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
| Gm7168 |
G |
A |
17: 14,169,140 (GRCm39) |
S169N |
probably damaging |
Het |
| Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
| Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 25,004,221 (GRCm39) |
N341D |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,815,634 (GRCm39) |
T384A |
possibly damaging |
Het |
| Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,987,145 (GRCm39) |
T124A |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
| Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation