Incidental Mutation 'IGL03275:Cwf19l1'
ID |
415385 |
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 # |
IGL03275
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
44097076-44124315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44111696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 246
(M246V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026218
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026218]
|
AlphaFold |
Q8CI33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026218
AA Change: M246V
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000026218 Gene: ENSMUSG00000025200 AA Change: M246V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,869,219 (GRCm39) |
Y134H |
probably damaging |
Het |
Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
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 |
IGL03236:Cwf19l1
|
APN |
19 |
44,115,887 (GRCm39) |
missense |
probably benign |
0.00 |
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 |