Incidental Mutation 'IGL01147:Vmn1r6'
ID51394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r6
Ensembl Gene ENSMUSG00000115701
Gene Namevomeronasal 1 receptor 6
SynonymsV1rc20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01147
Quality Score
Status
Chromosome6
Chromosomal Location56997243-57009825 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57002641 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 74 (L74H)
Ref Sequence ENSEMBL: ENSMUSP00000154199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079669] [ENSMUST00000226689] [ENSMUST00000227131] [ENSMUST00000227188] [ENSMUST00000227631] [ENSMUST00000227847] [ENSMUST00000228285]
Predicted Effect probably damaging
Transcript: ENSMUST00000079669
AA Change: L96H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078611
Gene: ENSMUSG00000115701
AA Change: L96H

DomainStartEndE-ValueType
Pfam:V1R 28 293 4.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226689
AA Change: L96H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000227131
AA Change: L96H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000227188
AA Change: L74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227631
AA Change: L74H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227847
AA Change: L96H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228285
AA Change: L96H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,343,785 probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Cdh1 C A 8: 106,660,884 T472K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap57 A T 4: 118,589,001 V688E probably damaging Het
Cfp G A X: 20,928,742 R155C probably damaging Het
Chst7 T C X: 20,060,752 I346T probably damaging Het
Crybg2 G A 4: 134,089,264 probably null Het
Ctsc T A 7: 88,302,271 V242D possibly damaging Het
Cyp27b1 C T 10: 127,050,386 T312I possibly damaging Het
D6Wsu163e A G 6: 126,944,852 D80G possibly damaging Het
Enpp3 G T 10: 24,774,907 T777K probably damaging Het
H2-M1 T A 17: 36,671,307 H134L possibly damaging Het
Heatr1 T C 13: 12,437,912 S2105P probably damaging Het
Herc2 T C 7: 56,156,949 S2388P probably benign Het
Igkv6-23 A G 6: 70,260,938 probably benign Het
Il1rapl2 C T X: 138,220,576 probably benign Het
Itpka T C 2: 119,742,773 L132P probably benign Het
Jak3 T C 8: 71,683,403 S616P probably benign Het
Kcnj11 T C 7: 46,098,769 K377E probably benign Het
Map4k3 A T 17: 80,636,718 probably null Het
Parp1 T C 1: 180,589,580 I643T probably damaging Het
Phf3 T C 1: 30,804,169 D1903G probably damaging Het
Picalm G T 7: 90,177,592 S416I probably benign Het
Pkn2 T C 3: 142,829,009 N285S probably benign Het
Sh3gl2 A C 4: 85,347,196 probably benign Het
Smpd1 C A 7: 105,555,736 T274K probably damaging Het
Snap91 G A 9: 86,798,558 T424M probably benign Het
Sox13 T A 1: 133,393,135 T46S probably benign Het
Syne1 G A 10: 5,052,691 Q8075* probably null Het
Trio T C 15: 27,881,320 E555G probably damaging Het
Upf3b T C X: 37,096,933 E298G probably damaging Het
Vmn1r158 A G 7: 22,790,779 S2P probably benign Het
Vwa2 T C 19: 56,901,634 S224P probably damaging Het
Wbp1l T A 19: 46,644,369 V36E probably damaging Het
Zfp367 A G 13: 64,135,439 S300P probably damaging Het
Other mutations in Vmn1r6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Vmn1r6 APN 6 57002804 missense probably damaging 1.00
IGL01011:Vmn1r6 APN 6 57002544 missense probably benign 0.00
IGL01475:Vmn1r6 APN 6 57002911 missense probably damaging 1.00
IGL01638:Vmn1r6 APN 6 57003192 nonsense probably null
IGL01860:Vmn1r6 APN 6 57002689 nonsense probably null
IGL01876:Vmn1r6 APN 6 57002461 missense probably benign 0.12
IGL01988:Vmn1r6 APN 6 57002665 missense probably damaging 0.99
R0531:Vmn1r6 UTSW 6 57002598 missense probably benign 0.00
R1495:Vmn1r6 UTSW 6 57003073 missense possibly damaging 0.58
R1733:Vmn1r6 UTSW 6 57002622 missense probably damaging 1.00
R2037:Vmn1r6 UTSW 6 57003124 missense probably damaging 1.00
R3625:Vmn1r6 UTSW 6 57002935 missense probably damaging 0.96
R4353:Vmn1r6 UTSW 6 57002692 missense possibly damaging 0.63
R4484:Vmn1r6 UTSW 6 57003189 missense probably benign
R4854:Vmn1r6 UTSW 6 57002698 missense probably benign 0.00
R5237:Vmn1r6 UTSW 6 57003194 missense probably damaging 1.00
R5341:Vmn1r6 UTSW 6 57002804 missense probably damaging 1.00
R5611:Vmn1r6 UTSW 6 57002377 missense probably damaging 1.00
R6795:Vmn1r6 UTSW 6 57002437 missense possibly damaging 0.85
R8423:Vmn1r6 UTSW 6 57002510 missense probably benign 0.30
Posted On2013-06-21