Incidental Mutation 'IGL03275:Cwf19l1'
ID415385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cwf19l1
Ensembl Gene ENSMUSG00000025200
Gene NameCWF19-like 1, cell cycle control (S. pombe)
Synonyms2610528C06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.861) question?
Stock #IGL03275
Quality Score
Status
Chromosome19
Chromosomal Location44108644-44135876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44123257 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 246 (M246V)
Ref Sequence ENSEMBL: ENSMUSP00000026218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026218]
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: 72,445,124 L125H probably damaging Het
2210408I21Rik A T 13: 77,298,555 T816S possibly damaging Het
Aspm T A 1: 139,487,295 I1438N probably damaging Het
BC005561 T A 5: 104,518,277 C222S probably benign Het
Bicdl1 A G 5: 115,731,160 Y134H probably damaging Het
Btnl1 A T 17: 34,385,512 K422N probably damaging Het
Ccdc158 T A 5: 92,629,632 I941F probably benign Het
Crnn A G 3: 93,149,418 K504E possibly damaging Het
Csmd1 T A 8: 16,157,092 I1308L probably benign Het
Desi1 T A 15: 82,003,762 I36F probably damaging Het
Foxf2 A G 13: 31,626,531 N151S probably damaging Het
Fryl A G 5: 73,148,033 V35A possibly damaging Het
Gabrg3 T C 7: 56,773,347 Y201C probably damaging Het
Gm11487 T A 4: 73,403,416 R127S possibly damaging Het
Gm813 T C 16: 58,615,756 Y68C probably damaging Het
Grb10 T A 11: 11,933,591 T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 *371W probably null Het
Irf7 C A 7: 141,265,146 R49L probably damaging Het
Itpr2 T C 6: 146,158,877 probably benign Het
Jam3 T C 9: 27,101,249 T201A probably damaging Het
Mst1 T C 9: 108,084,388 S606P possibly damaging Het
Olfr483 T A 7: 108,103,608 C100S probably damaging Het
Otog A G 7: 46,306,230 E2800G probably damaging Het
Ptpro C T 6: 137,450,006 P292S probably damaging Het
Rab10 A T 12: 3,256,959 Y79N probably damaging Het
Rc3h1 T C 1: 160,959,555 probably null Het
Slc2a3 C T 6: 122,736,742 probably null Het
Sptbn2 T C 19: 4,732,661 Y542H possibly damaging Het
Tas2r110 T C 6: 132,868,098 F31L probably damaging Het
Ttn A G 2: 76,945,107 S1864P probably damaging Het
Ttn A G 2: 76,717,344 S32161P probably damaging Het
Vmn1r228 A G 17: 20,776,842 I138T probably damaging Het
Vmn2r10 T A 5: 109,003,377 T124S probably benign Het
Other mutations in Cwf19l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Cwf19l1 APN 19 44131410 critical splice donor site probably null
IGL01691:Cwf19l1 APN 19 44120872 critical splice donor site probably null
IGL02427:Cwf19l1 APN 19 44133023 nonsense probably null
IGL03234:Cwf19l1 APN 19 44127370 missense probably damaging 1.00
IGL03236:Cwf19l1 APN 19 44127448 missense probably benign 0.00
R0068:Cwf19l1 UTSW 19 44131499 missense probably damaging 0.99
R0068:Cwf19l1 UTSW 19 44131499 missense probably damaging 0.99
R0486:Cwf19l1 UTSW 19 44114690 missense probably benign 0.35
R1820:Cwf19l1 UTSW 19 44127387 missense probably benign 0.00
R2317:Cwf19l1 UTSW 19 44132158 missense possibly damaging 0.92
R2418:Cwf19l1 UTSW 19 44131472 missense probably benign
R2438:Cwf19l1 UTSW 19 44110563 missense probably benign 0.00
R3796:Cwf19l1 UTSW 19 44114567 missense probably damaging 0.97
R3850:Cwf19l1 UTSW 19 44131498 missense probably benign 0.24
R4518:Cwf19l1 UTSW 19 44133034 missense probably damaging 1.00
R4855:Cwf19l1 UTSW 19 44114567 missense probably damaging 0.97
R5402:Cwf19l1 UTSW 19 44133085 critical splice acceptor site probably null
R5587:Cwf19l1 UTSW 19 44120877 missense possibly damaging 0.49
R5785:Cwf19l1 UTSW 19 44121941 missense probably damaging 0.98
R6354:Cwf19l1 UTSW 19 44127473 missense probably benign 0.10
R6652:Cwf19l1 UTSW 19 44114699 missense probably benign 0.11
R7365:Cwf19l1 UTSW 19 44132140 missense probably damaging 1.00
R7548:Cwf19l1 UTSW 19 44110550 missense probably benign 0.18
R7562:Cwf19l1 UTSW 19 44129241 missense probably damaging 1.00
Posted On2016-08-02