Incidental Mutation 'R3858:Vcf2'
ID 276272
Institutional Source Beutler Lab
Gene Symbol Vcf2
Ensembl Gene ENSMUSG00000041353
Gene Name VCP nuclear cofactor family member 2
Synonyms 6330540D07Rik, Tmem29, 2700081K05Rik
MMRRC Submission 040786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R3858 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 149180769-149242150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149203357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 39 (Q39R)
Ref Sequence ENSEMBL: ENSMUSP00000132541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059256] [ENSMUST00000163233] [ENSMUST00000173996]
AlphaFold A2ANF5
Predicted Effect probably benign
Transcript: ENSMUST00000059256
SMART Domains Protein: ENSMUSP00000053632
Gene: ENSMUSG00000041353

DomainStartEndE-ValueType
Pfam:PGC7_Stella 1 167 8.9e-68 PFAM
low complexity region 172 184 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148968
Predicted Effect probably benign
Transcript: ENSMUST00000163233
AA Change: Q39R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132541
Gene: ENSMUSG00000041353
AA Change: Q39R

DomainStartEndE-ValueType
Pfam:FAM104 12 123 2.9e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155740
Predicted Effect probably benign
Transcript: ENSMUST00000173996
SMART Domains Protein: ENSMUSP00000134594
Gene: ENSMUSG00000041353

DomainStartEndE-ValueType
Pfam:PGC7_Stella 1 170 5e-38 PFAM
low complexity region 172 184 N/A INTRINSIC
Meta Mutation Damage Score 0.0841 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,863,581 (GRCm39) S179T probably benign Het
Ahnak A G 19: 8,988,223 (GRCm39) E3169G possibly damaging Het
Ccdc82 G A 9: 13,251,704 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,660 (GRCm39) L79P probably damaging Het
Cd2ap G A 17: 43,127,463 (GRCm39) Q377* probably null Het
Celf1 A G 2: 90,843,086 (GRCm39) E411G probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Cps1 A G 1: 67,207,437 (GRCm39) Y582C probably damaging Het
Efhb A G 17: 53,769,808 (GRCm39) L167S possibly damaging Het
Erc2 A G 14: 28,197,599 (GRCm39) probably benign Het
Hs3st1 G A 5: 39,772,256 (GRCm39) T129I probably damaging Het
Irs4 T C X: 140,507,059 (GRCm39) E379G probably damaging Het
Kcnmb2 T C 3: 32,252,450 (GRCm39) V217A probably damaging Het
Megf10 T C 18: 57,408,907 (GRCm39) probably benign Het
Mib1 T A 18: 10,798,409 (GRCm39) C757S possibly damaging Het
Mtmr4 G A 11: 87,488,088 (GRCm39) V24M probably damaging Het
Obscn A G 11: 58,971,795 (GRCm39) probably benign Het
Or12d13 A T 17: 37,648,117 (GRCm39) L2* probably null Het
Or5b119 T A 19: 13,457,494 (GRCm39) I23F possibly damaging Het
Pirb T C 7: 3,720,662 (GRCm39) K279E possibly damaging Het
Pmp22 T C 11: 63,025,301 (GRCm39) S45P probably benign Het
Pth2r A T 1: 65,361,206 (GRCm39) I52F probably damaging Het
Reck A G 4: 43,930,261 (GRCm39) T612A probably benign Het
Rtn4rl2 A G 2: 84,710,730 (GRCm39) probably null Het
Sis A G 3: 72,835,985 (GRCm39) I868T probably damaging Het
Slc23a3 A G 1: 75,106,040 (GRCm39) probably null Het
Slc4a1 A T 11: 102,247,947 (GRCm39) V349E probably benign Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Tle4 G A 19: 14,445,577 (GRCm39) T223I probably benign Het
Tor3a T A 1: 156,497,124 (GRCm39) L140F probably damaging Het
Vmn2r86 A G 10: 130,291,594 (GRCm39) M57T probably benign Het
Zfp512 G T 5: 31,630,184 (GRCm39) R222L probably damaging Het
Other mutations in Vcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Vcf2 APN X 149,181,395 (GRCm39) missense possibly damaging 0.74
R0606:Vcf2 UTSW X 149,181,360 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCAACCCATGCTTGAGACAAC -3'
(R):5'- ATCAGAGCAGCACTGAATGG -3'

Sequencing Primer
(F):5'- GCTTGAGACAACATTTAAAGCCCTTC -3'
(R):5'- CAGAGCAGCACTGAATGGTTCTTTC -3'
Posted On 2015-04-06