Incidental Mutation 'R4855:Cwf19l1'
ID 373922
Institutional Source Beutler Lab
Gene Symbol Cwf19l1
Ensembl Gene ENSMUSG00000025200
Gene Name CWF19 like cell cycle control factor 1
Synonyms 2610528C06Rik
MMRRC Submission 042466-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R4855 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44097076-44124315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44103006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 403 (V403A)
Ref Sequence ENSEMBL: ENSMUSP00000026218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026218]
AlphaFold Q8CI33
Predicted Effect probably damaging
Transcript: ENSMUST00000026218
AA Change: V403A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: V403A

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 0.4750 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (93/95)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adad1 G T 3: 37,139,260 (GRCm39) L443F probably damaging Het
Amph T A 13: 19,268,378 (GRCm39) M70K probably damaging Het
Ankra2 T A 13: 98,409,919 (GRCm39) L306H probably damaging Het
Arc A C 15: 74,543,592 (GRCm39) D210E probably benign Het
Arhgap10 A G 8: 78,159,367 (GRCm39) probably null Het
Atp8b5 T A 4: 43,344,449 (GRCm39) N445K probably benign Het
C1qc G T 4: 136,617,746 (GRCm39) Q117K probably benign Het
Cadps T A 14: 12,822,449 (GRCm38) E97V unknown Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cdk13 A T 13: 17,895,868 (GRCm39) W1014R probably damaging Het
Cltb C T 13: 54,746,908 (GRCm39) E23K probably damaging Het
Clvs2 A T 10: 33,498,642 (GRCm39) I96N probably damaging Het
Ddr2 A T 1: 169,816,066 (GRCm39) L547Q possibly damaging Het
Ebf1 A T 11: 44,863,735 (GRCm39) K354* probably null Het
Fat4 A G 3: 38,942,466 (GRCm39) Q453R probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gata6 A G 18: 11,054,497 (GRCm39) E142G possibly damaging Het
Gm14221 T C 2: 160,416,600 (GRCm39) noncoding transcript Het
Gm42791 C A 5: 148,896,247 (GRCm39) probably benign Het
Gm6370 G T 5: 146,430,621 (GRCm39) V269L probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpt A T 15: 76,583,485 (GRCm39) E206V probably damaging Het
Grm3 G A 5: 9,620,047 (GRCm39) A399V probably damaging Het
Helq A T 5: 100,931,025 (GRCm39) V575E possibly damaging Het
Herc4 A G 10: 63,151,437 (GRCm39) probably null Het
Ifi207 A T 1: 173,557,381 (GRCm39) N452K probably damaging Het
Ikbke A G 1: 131,184,848 (GRCm39) probably null Het
Kbtbd2 A G 6: 56,756,687 (GRCm39) F350L probably benign Het
Kmt2c A G 5: 25,519,555 (GRCm39) V2185A probably benign Het
Lgi2 T C 5: 52,695,849 (GRCm39) Q362R probably damaging Het
Lrit1 G A 14: 36,783,773 (GRCm39) G367E possibly damaging Het
Lrp1 G A 10: 127,446,311 (GRCm39) H78Y probably benign Het
Matk A G 10: 81,098,720 (GRCm39) probably benign Het
Med21 G A 6: 146,549,690 (GRCm39) G24S probably damaging Het
Met G T 6: 17,558,796 (GRCm39) L1141F probably damaging Het
Mroh3 A T 1: 136,128,677 (GRCm39) probably null Het
Mrpl15 T C 1: 4,844,683 (GRCm39) I203V probably benign Het
Naip1 T C 13: 100,559,728 (GRCm39) probably null Het
Ndufa9 A C 6: 126,804,505 (GRCm39) Y298* probably null Het
Neb T C 2: 52,188,906 (GRCm39) E808G probably damaging Het
Nol4l C T 2: 153,253,726 (GRCm39) G616S probably benign Het
Oprm1 T A 10: 6,788,468 (GRCm39) C408S probably benign Het
Or2ag18 T C 7: 106,405,463 (GRCm39) M69V probably benign Het
Or4f14 A G 2: 111,742,444 (GRCm39) V277A probably benign Het
Or4k42 T G 2: 111,320,293 (GRCm39) D70A probably damaging Het
Or52e7 T A 7: 104,684,858 (GRCm39) I151N probably damaging Het
Or5ak20 T C 2: 85,183,793 (GRCm39) N159S possibly damaging Het
Paqr3 A G 5: 97,256,053 (GRCm39) I107T possibly damaging Het
Pex5l G A 3: 33,196,989 (GRCm39) probably benign Het
Phf8-ps C T 17: 33,285,713 (GRCm39) S363N probably benign Het
Pik3ap1 T C 19: 41,316,284 (GRCm39) D326G probably benign Het
Plaa G T 4: 94,474,645 (GRCm39) D252E probably damaging Het
Plxna2 G A 1: 194,480,040 (GRCm39) V1404I probably benign Het
Ppargc1a G A 5: 51,631,564 (GRCm39) A355V possibly damaging Het
Primpol A G 8: 47,039,726 (GRCm39) S350P probably benign Het
Prlr T C 15: 10,328,883 (GRCm39) S453P probably benign Het
Psmd5 T C 2: 34,742,564 (GRCm39) probably benign Het
Robo2 A T 16: 73,768,079 (GRCm39) V571E probably damaging Het
Sbspon A T 1: 15,929,264 (GRCm39) S176T possibly damaging Het
Scyl2 G A 10: 89,476,325 (GRCm39) probably benign Het
Sema3e T A 5: 14,280,144 (GRCm39) V341E probably damaging Het
Serpinb3b A T 1: 107,082,270 (GRCm39) F331L possibly damaging Het
Setd2 A G 9: 110,401,022 (GRCm39) H1736R probably benign Het
Sidt2 A T 9: 45,863,327 (GRCm39) D180E probably benign Het
Skint9 A T 4: 112,248,208 (GRCm39) Y179N probably benign Het
Slc27a5 T C 7: 12,722,560 (GRCm39) N638S probably benign Het
Slc6a4 T A 11: 76,904,135 (GRCm39) W197R probably damaging Het
Spag17 A T 3: 99,970,649 (GRCm39) M1278L probably benign Het
Sptbn1 T A 11: 30,092,353 (GRCm39) I471F probably damaging Het
Tasor2 A T 13: 3,616,680 (GRCm39) probably null Het
Teddm1a A G 1: 153,768,382 (GRCm39) Q282R probably benign Het
Tex35 A G 1: 156,927,295 (GRCm39) L160P probably damaging Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tpp1 T C 7: 105,395,930 (GRCm39) Q533R probably benign Het
Ttc13 C T 8: 125,401,174 (GRCm39) D730N probably damaging Het
Ufc1 A G 1: 171,122,375 (GRCm39) probably benign Het
Vcpip1 A G 1: 9,817,589 (GRCm39) W265R probably damaging Het
Wdr11 C G 7: 129,202,158 (GRCm39) probably null Het
Xirp2 A G 2: 67,341,408 (GRCm39) I1216M possibly damaging Het
Zswim2 A G 2: 83,747,187 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGCTCCCAGCCCTCTAAATG -3'
(R):5'- CATATAGGCTTGCTGTCTTGC -3'

Sequencing Primer
(F):5'- GCCCTCTAAATGACCACCATG -3'
(R):5'- CATATAGGCTTGCTGTCTTGCTTCTG -3'
Posted On 2016-03-01