Incidental Mutation 'IGL02436:Vgll2'
ID293280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vgll2
Ensembl Gene ENSMUSG00000049641
Gene Namevestigial like family member 2
SynonymsC130057C21Rik, Vito1, VITO-1, Vgl-2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.775) question?
Stock #IGL02436
Quality Score
Status
Chromosome10
Chromosomal Location52022502-52028471 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 52025222 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 83 (R83*)
Ref Sequence ENSEMBL: ENSMUSP00000124091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058347] [ENSMUST00000163017]
Predicted Effect probably null
Transcript: ENSMUST00000058347
AA Change: R83*
SMART Domains Protein: ENSMUSP00000050273
Gene: ENSMUSG00000049641
AA Change: R83*

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
Pfam:Vg_Tdu 78 110 7.6e-27 PFAM
low complexity region 192 204 N/A INTRINSIC
low complexity region 206 213 N/A INTRINSIC
low complexity region 245 262 N/A INTRINSIC
low complexity region 269 282 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163017
AA Change: R83*
SMART Domains Protein: ENSMUSP00000124091
Gene: ENSMUSG00000049641
AA Change: R83*

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
Pfam:Vg_Tdu 78 108 1.1e-23 PFAM
low complexity region 193 205 N/A INTRINSIC
low complexity region 207 214 N/A INTRINSIC
low complexity region 246 263 N/A INTRINSIC
low complexity region 270 283 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the Vestigial-like (Vgl) gene family and is upregulated during muscle differentiation. The product of this gene interacts with and modifies the DNA-binding properties of the transcription factor, TEF-1, and is important for muscle tissue development. Reduced expression of this gene leads to a reduction in the terminal differentiation of muscle cells. Alternate splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC005561 T A 5: 104,521,155 I1181K probably benign Het
Carm1 A T 9: 21,579,462 R209W probably damaging Het
Clec4a2 A G 6: 123,140,678 D185G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk3 A G 1: 131,128,865 S524P probably benign Het
Fam46c C A 3: 100,472,507 R311L probably benign Het
Gm17175 A T 14: 51,569,651 probably benign Het
Hdx A T X: 111,600,748 D512E probably damaging Het
Hs6st2 T G X: 51,680,014 T275P possibly damaging Het
Hus1 T C 11: 9,006,057 I159V possibly damaging Het
Lrrc37a T C 11: 103,498,177 T2141A unknown Het
Ncoa7 A T 10: 30,694,147 I272N probably damaging Het
Olfr286 G T 15: 98,227,290 C118* probably null Het
P3h2 T C 16: 25,997,200 K188E probably benign Het
Pcsk5 A G 19: 17,564,708 probably null Het
Pramef12 G T 4: 144,392,969 P343T possibly damaging Het
Scn1a G A 2: 66,351,153 P9S probably benign Het
Slc7a9 C A 7: 35,457,053 L307I probably benign Het
Srebf2 G A 15: 82,197,727 G87S probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tex30 T C 1: 44,088,505 probably null Het
Tnrc6a C T 7: 123,184,215 R970* probably null Het
Other mutations in Vgll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1796:Vgll2 UTSW 10 52025228 missense probably damaging 1.00
R5193:Vgll2 UTSW 10 52027992 missense possibly damaging 0.96
R5397:Vgll2 UTSW 10 52025166 missense probably damaging 1.00
R5614:Vgll2 UTSW 10 52025222 nonsense probably null
R5766:Vgll2 UTSW 10 52027563 missense probably damaging 1.00
R5842:Vgll2 UTSW 10 52025292 missense probably damaging 1.00
R7063:Vgll2 UTSW 10 52027976 missense probably benign 0.00
R7272:Vgll2 UTSW 10 52027662 missense possibly damaging 0.76
Z1176:Vgll2 UTSW 10 52027602 missense possibly damaging 0.94
Z1177:Vgll2 UTSW 10 52027808 missense probably benign 0.34
Posted On2015-04-16