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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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