Incidental Mutation 'R0486:Cwf19l1'
ID42313
Institutional Source Beutler Lab
Gene Symbol Cwf19l1
Ensembl Gene ENSMUSG00000025200
Gene NameCWF19-like 1, cell cycle control (S. pombe)
Synonyms2610528C06Rik
MMRRC Submission 038685-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.878) question?
Stock #R0486 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location44108644-44135876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44114690 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 362 (V362A)
Ref Sequence ENSEMBL: ENSMUSP00000026218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026218]
Predicted Effect probably benign
Transcript: ENSMUST00000026218
AA Change: V362A

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: V362A

DomainStartEndE-ValueType
Pfam:CwfJ_C_1 314 433 5.6e-37 PFAM
Pfam:CwfJ_C_2 439 534 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104203
Meta Mutation Damage Score 0.22 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 98% (65/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,177,783 L268P probably damaging Het
Adam22 A T 5: 8,330,048 H83Q probably damaging Het
Anln T C 9: 22,352,826 D886G probably benign Het
Arhgef11 T A 3: 87,688,852 probably null Het
Arl8b A T 6: 108,815,326 D116V possibly damaging Het
BC051665 C T 13: 60,784,045 G180D probably damaging Het
Bloc1s2 A G 19: 44,143,150 probably benign Het
Ccdc185 T G 1: 182,747,859 S422R possibly damaging Het
Cd101 T C 3: 101,008,092 K720E possibly damaging Het
Cdh23 C A 10: 60,386,946 A1236S probably damaging Het
Chd1 G A 17: 15,734,342 A491T probably damaging Het
Chdh T C 14: 30,032,858 V275A possibly damaging Het
Cmtm2b A T 8: 104,330,415 I136F probably damaging Het
Cps1 T C 1: 67,165,392 V457A probably damaging Het
Cyp4f17 T C 17: 32,524,823 probably benign Het
Cyp4f18 C A 8: 71,996,017 V263L probably benign Het
Dclre1a A G 19: 56,541,490 probably benign Het
Dpp6 T C 5: 27,661,642 I446T probably benign Het
F11r T C 1: 171,460,588 W61R probably damaging Het
Fam120b C T 17: 15,426,288 probably benign Het
Fastkd2 T C 1: 63,752,340 V669A possibly damaging Het
Foxg1 T C 12: 49,384,531 probably benign Het
Foxo3 A G 10: 42,197,481 Y347H probably damaging Het
G3bp1 T C 11: 55,498,626 F383L probably damaging Het
Gbp7 C A 3: 142,546,317 probably benign Het
Glipr1 T C 10: 111,996,849 probably benign Het
Gm11555 A G 11: 99,650,160 S8P unknown Het
H6pd G A 4: 149,982,936 probably benign Het
Haus8 C A 8: 71,256,537 G76W probably damaging Het
Haus8 C T 8: 71,256,538 M75I probably benign Het
Kcnj13 C A 1: 87,387,030 V157L probably damaging Het
Kcnt2 T A 1: 140,509,480 C550* probably null Het
Kdm5d A G Y: 927,107 N615S probably damaging Het
Naip2 A C 13: 100,161,782 I582S probably benign Het
Ncapd2 G A 6: 125,184,027 R292* probably null Het
Ngef T A 1: 87,479,126 N640I probably damaging Het
Nhlrc3 T C 3: 53,452,437 Y335C probably damaging Het
Nipbl A T 15: 8,338,870 probably benign Het
Nop2 A G 6: 125,140,673 K434R probably null Het
Nr4a3 T C 4: 48,056,525 probably benign Het
Olfr881 A G 9: 37,992,702 N70S possibly damaging Het
Piezo2 A C 18: 63,029,061 I2233R probably damaging Het
Prag1 A T 8: 36,146,633 E1113V probably damaging Het
Prpsap2 A G 11: 61,741,000 I177T possibly damaging Het
Psmd1 T A 1: 86,094,290 N611K probably damaging Het
Ptpn7 C T 1: 135,137,358 T168I probably damaging Het
Pus1 A T 5: 110,779,730 V53E probably damaging Het
Rgs22 A G 15: 36,092,882 M415T probably damaging Het
Rnf165 T A 18: 77,484,254 Q91L probably damaging Het
Rnf17 C T 14: 56,514,175 T1490M probably benign Het
Rnf20 C A 4: 49,645,907 L332I possibly damaging Het
Snrnp40 C G 4: 130,378,043 probably null Het
Spam1 A T 6: 24,796,395 Q115L probably damaging Het
Syce1l A T 8: 113,654,763 probably null Het
Synj1 T C 16: 90,938,263 probably benign Het
Tas2r126 A T 6: 42,435,291 I253F probably benign Het
Tecpr2 G A 12: 110,896,369 V72I probably benign Het
Tfap2a G T 13: 40,728,694 P45Q probably damaging Het
Trip12 C A 1: 84,761,084 G714* probably null Het
Wdr31 A G 4: 62,453,893 S330P probably damaging Het
Wdr64 T C 1: 175,795,203 probably benign Het
Yes1 T A 5: 32,655,582 Y343* probably null 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
IGL03275:Cwf19l1 APN 19 44123257 missense probably benign 0.10
R0068:Cwf19l1 UTSW 19 44131499 missense probably damaging 0.99
R0068:Cwf19l1 UTSW 19 44131499 missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TTACCCAGCAAAGTCCAGGTCCTC -3'
(R):5'- GGCAACATCTTGAGCATTTTCTACTGC -3'

Sequencing Primer
(F):5'- AGGTCCCCACAGTGATTTCTAAG -3'
(R):5'- CACCTCAGGCTCACTGTGTG -3'
Posted On2013-05-23