Incidental Mutation 'R9235:Cwf19l1'
ID 700454
Institutional Source Beutler Lab
Gene Symbol Cwf19l1
Ensembl Gene ENSMUSG00000025200
Gene Name CWF19 like cell cycle control factor 1
Synonyms 2610528C06Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R9235 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44097076-44124315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44113275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 227 (A227V)
Ref Sequence ENSEMBL: ENSMUSP00000026218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026218]
AlphaFold Q8CI33
Predicted Effect probably damaging
Transcript: ENSMUST00000026218
AA Change: A227V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: A227V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,623,518 (GRCm39) I76N possibly damaging Het
4930558K02Rik T C 1: 161,780,172 (GRCm39) H114R possibly damaging Het
C2 T C 17: 35,083,845 (GRCm39) D414G probably damaging Het
Catsper4 C T 4: 133,954,606 (GRCm39) D15N probably benign Het
Ccnb2 A G 9: 70,318,163 (GRCm39) V203A probably damaging Het
Cd2 A G 3: 101,195,159 (GRCm39) F13L probably benign Het
Dis3l2 G A 1: 86,749,061 (GRCm39) D176N possibly damaging Het
Dmpk T G 7: 18,822,141 (GRCm39) N366K probably damaging Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Efcab3 A G 11: 104,907,987 (GRCm39) D4479G probably benign Het
Fat3 T A 9: 15,833,674 (GRCm39) E126V probably null Het
Fbxo27 T A 7: 28,397,756 (GRCm39) Y264* probably null Het
Fign A G 2: 63,810,907 (GRCm39) M121T probably damaging Het
Flt3 T C 5: 147,320,202 (GRCm39) Y54C possibly damaging Het
Frmd4a G A 2: 4,599,366 (GRCm39) R460H probably damaging Het
Igkv4-53 A T 6: 69,626,301 (GRCm39) I13N possibly damaging Het
Islr T A 9: 58,064,944 (GRCm39) I188F possibly damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Klra3 A T 6: 130,311,218 (GRCm39) C54* probably null Het
Klrb1b A G 6: 128,795,547 (GRCm39) F140S probably damaging Het
Kmt2c T C 5: 25,504,997 (GRCm39) E3437G probably damaging Het
Mdn1 C A 4: 32,739,122 (GRCm39) L3648I probably benign Het
Mlxipl C A 5: 135,157,541 (GRCm39) T359K possibly damaging Het
Morc3 T C 16: 93,659,321 (GRCm39) W410R probably damaging Het
Mrpl49 G A 19: 6,105,147 (GRCm39) R105* probably null Het
Myom3 T A 4: 135,541,653 (GRCm39) Y1415N probably damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nrap A T 19: 56,330,760 (GRCm39) Y1100* probably null Het
Or14a257 A T 7: 86,138,306 (GRCm39) V151E probably benign Het
Or5d43 A T 2: 88,104,724 (GRCm39) I223N probably damaging Het
Or5t5 T C 2: 86,616,548 (GRCm39) I158T probably benign Het
Or6c8b G T 10: 128,882,051 (GRCm39) Q294K probably benign Het
Pank1 C A 19: 34,856,197 (GRCm39) A94S probably benign Het
Pikfyve C A 1: 65,299,188 (GRCm39) T1613K probably benign Het
Plbd2 T A 5: 120,626,554 (GRCm39) I352L probably benign Het
Plec T C 15: 76,059,701 (GRCm39) D3412G probably damaging Het
Plekhd1 T A 12: 80,768,791 (GRCm39) Y425N possibly damaging Het
Plscr5 A G 9: 92,086,417 (GRCm39) N129S possibly damaging Het
Prkdc T A 16: 15,651,751 (GRCm39) M3796K probably damaging Het
Psme3 A T 11: 101,211,594 (GRCm39) E213D possibly damaging Het
Ptprn2 G A 12: 117,233,271 (GRCm39) probably null Het
Sema5a A G 15: 32,619,034 (GRCm39) S521G probably benign Het
Slc34a2 A T 5: 53,226,667 (GRCm39) M597L probably benign Het
Slc6a13 A G 6: 121,301,984 (GRCm39) R189G probably damaging Het
Smyd4 G A 11: 75,295,689 (GRCm39) E782K probably benign Het
Sspo T A 6: 48,466,718 (GRCm39) C4078S probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Ttc21a G T 9: 119,774,559 (GRCm39) R271L probably benign Het
Ubr5 A G 15: 38,045,982 (GRCm39) L114P Het
Ugt1a2 A G 1: 88,128,488 (GRCm39) R44G possibly damaging Het
Ulk4 G A 9: 120,981,217 (GRCm39) T907I probably benign Het
Unc13a G T 8: 72,115,912 (GRCm39) L97I probably benign Het
Uqcc6 A T 10: 82,458,586 (GRCm39) C22S possibly damaging Het
Vmn1r25 A G 6: 57,955,488 (GRCm39) L267P probably damaging Het
Vmn2r101 T A 17: 19,810,238 (GRCm39) N341K probably damaging Het
Wdr3 T A 3: 100,054,023 (GRCm39) Q534L probably benign Het
Zfp28 A T 7: 6,397,605 (GRCm39) H680L probably damaging Het
Zfp986 T A 4: 145,625,759 (GRCm39) F140I 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
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
R9695:Cwf19l1 UTSW 19 44,101,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGCCTTTCTCTAAGACCGC -3'
(R):5'- GTCTCATTAGGATGATGCGAAAG -3'

Sequencing Primer
(F):5'- TTTCTCTAAGACCGCCTACAAAC -3'
(R):5'- TGATGCGAAAGAAGGAAGATAACCTG -3'
Posted On 2022-02-07