Incidental Mutation 'R8207:Vgll4'
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ID635956
Institutional Source Beutler Lab
Gene Symbol Vgll4
Ensembl Gene ENSMUSG00000030315
Gene Namevestigial like family member 4
SynonymsVGL-4
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8207 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location114860628-114969994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114862825 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 175 (S175P)
Ref Sequence ENSEMBL: ENSMUSP00000032459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000032459] [ENSMUST00000139640] [ENSMUST00000147639] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]
PDB Structure
Crystal structure of the VGLL4-TEAD4 complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000032457
SMART Domains Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000032459
AA Change: S175P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032459
Gene: ENSMUSG00000030315
AA Change: S175P

DomainStartEndE-ValueType
TDU 203 218 5.27e-4 SMART
TDU 231 246 9.84e-4 SMART
low complexity region 251 264 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139640
AA Change: S169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118618
Gene: ENSMUSG00000030315
AA Change: S169P

DomainStartEndE-ValueType
Pfam:VGLL4 4 189 1.1e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147639
AA Change: S169P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123139
Gene: ENSMUSG00000030315
AA Change: S169P

DomainStartEndE-ValueType
TDU 197 212 5.27e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169310
SMART Domains Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ATG7_N 9 319 1.5e-106 PFAM
Pfam:ThiF 329 643 7.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182428
SMART Domains Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182793
SMART Domains Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182902
SMART Domains Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 350 506 1.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183165
SMART Domains Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314

DomainStartEndE-ValueType
Pfam:ThiF 311 467 9.7e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik T A 9: 92,351,008 F61L probably benign Het
Aen G A 7: 78,902,743 M150I possibly damaging Het
Arhgef11 A G 3: 87,698,775 N279S possibly damaging Het
Arid3a T C 10: 79,950,926 probably null Het
Casp8ap2 A G 4: 32,646,446 T1840A possibly damaging Het
Ccdc14 T A 16: 34,705,043 N235K possibly damaging Het
Cdh7 T C 1: 109,994,346 V56A probably damaging Het
Clec16a A G 16: 10,627,448 N518S probably benign Het
Clec16a G A 16: 10,694,710 R837H probably damaging Het
Cog7 T C 7: 121,977,292 D137G possibly damaging Het
Cpt1b T C 15: 89,418,815 T649A probably damaging Het
Efcab8 C G 2: 153,789,225 L192V probably damaging Het
Farp2 A G 1: 93,621,243 R1024G probably benign Het
Fmo1 T A 1: 162,850,107 T147S probably benign Het
Fryl A C 5: 73,100,500 probably null Het
Galnt13 A C 2: 54,880,110 I305L probably benign Het
Guca2a A G 4: 119,637,754 N2D unknown Het
Iqcd C T 5: 120,602,449 R282W probably damaging Het
Lamc1 A C 1: 153,250,522 C475G probably damaging Het
Map3k5 AAAAGAAAAAGA AA 10: 20,110,866 probably null Het
Med13 A T 11: 86,303,549 D789E probably damaging Het
Mfsd7c GTAGTGTATA GTA 12: 85,803,148 probably null Het
Mn1 A G 5: 111,421,785 Y1207C probably damaging Het
Mroh2b A G 15: 4,938,410 D977G possibly damaging Het
Mrpl53 A T 6: 83,109,188 N26I probably damaging Het
Nell1 A T 7: 50,220,012 probably null Het
Ogdh T G 11: 6,349,329 F743V probably benign Het
Olfr1424 A T 19: 12,058,858 M298K possibly damaging Het
Olfr732 C T 14: 50,281,579 V225I probably benign Het
Olfr788 A G 10: 129,473,084 T131A probably benign Het
Pmvk A G 3: 89,468,592 E174G probably benign Het
Pou6f2 T C 13: 18,239,573 N206D Het
Riok1 T A 13: 38,052,320 H347Q probably damaging Het
Ryr1 A G 7: 29,090,225 L1488P probably damaging Het
Shkbp1 A G 7: 27,352,684 V158A probably benign Het
Slc9c1 A G 16: 45,539,713 I43M possibly damaging Het
Slmo1 A T 18: 67,472,948 S42C probably benign Het
Smarca2 A G 19: 26,676,680 N755S possibly damaging Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Tfb2m G A 1: 179,546,103 P10L probably benign Het
Trim30c T C 7: 104,383,496 M252V probably benign Het
Ttll1 A G 15: 83,500,078 L116P probably damaging Het
Tubd1 C T 11: 86,549,422 H91Y possibly damaging Het
Vmn1r79 A G 7: 12,176,488 Y99C possibly damaging Het
Vmn2r80 C T 10: 79,194,316 Q659* probably null Het
Zfp382 A G 7: 30,134,415 D497G possibly damaging Het
Zfp41 A G 15: 75,618,535 E112G probably damaging Het
Zfyve26 A G 12: 79,260,831 S1754P probably damaging Het
Other mutations in Vgll4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01454:Vgll4 APN 6 114863996 missense probably benign 0.10
IGL02080:Vgll4 APN 6 114862798 missense probably damaging 1.00
IGL02551:Vgll4 APN 6 114862293 missense probably damaging 1.00
R0946:Vgll4 UTSW 6 114890807 critical splice acceptor site probably null
R0946:Vgll4 UTSW 6 114890808 critical splice acceptor site probably null
R1710:Vgll4 UTSW 6 114957934 critical splice donor site probably null
R1815:Vgll4 UTSW 6 114864059 missense probably benign 0.05
R1843:Vgll4 UTSW 6 114862795 missense probably benign 0.22
R1922:Vgll4 UTSW 6 114921335 missense probably benign 0.29
R4407:Vgll4 UTSW 6 114890612 splice site probably null
R5147:Vgll4 UTSW 6 114890615 critical splice donor site probably null
R5714:Vgll4 UTSW 6 114890776 missense possibly damaging 0.70
R6080:Vgll4 UTSW 6 114921338 missense probably benign 0.29
R6954:Vgll4 UTSW 6 114921367 missense probably damaging 1.00
R7445:Vgll4 UTSW 6 114862196 missense unknown
R7500:Vgll4 UTSW 6 114862332 missense probably damaging 1.00
R8252:Vgll4 UTSW 6 114890734 missense probably damaging 1.00
R8305:Vgll4 UTSW 6 114890652 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTATGCCTCCTGAATCATGG -3'
(R):5'- CTCTCGACCTGCTGTTGTGTAG -3'

Sequencing Primer
(F):5'- TCATGGCCAACTCAAGGTG -3'
(R):5'- ACCTGCTGTTGTGTAGCACAGAG -3'
Posted On2020-07-13