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) question?
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

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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