Incidental Mutation 'IGL01524:Vmn1r216'
ID89490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vmn1r216
Ensembl Gene ENSMUSG00000116057
Gene Name
SynonymsV1ri10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL01524
Quality Score
Status
Chromosome13
Chromosomal Location23099071-23100129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 23099349 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 67 (N67K)
Ref Sequence ENSEMBL: ENSMUSP00000153991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080253] [ENSMUST00000228389] [ENSMUST00000228802]
Predicted Effect probably benign
Transcript: ENSMUST00000080253
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: N67K

DomainStartEndE-ValueType
Pfam:TAS2R 5 295 2.7e-7 PFAM
Pfam:V1R 35 297 4.3e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227317
Predicted Effect probably benign
Transcript: ENSMUST00000228389
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000228802
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Vmn1r216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Vmn1r216 APN 13 23099404 missense probably benign 0.03
IGL01673:Vmn1r216 APN 13 23099471 missense probably damaging 1.00
IGL02474:Vmn1r216 APN 13 23099477 missense possibly damaging 0.90
IGL02867:Vmn1r216 APN 13 23099479 missense probably damaging 1.00
IGL02889:Vmn1r216 APN 13 23099479 missense probably damaging 1.00
IGL03289:Vmn1r216 APN 13 23100012 missense possibly damaging 0.94
R0113:Vmn1r216 UTSW 13 23099461 missense probably damaging 1.00
R2008:Vmn1r216 UTSW 13 23099491 missense probably damaging 1.00
R2191:Vmn1r216 UTSW 13 23099233 missense probably benign 0.39
R2960:Vmn1r216 UTSW 13 23099933 missense probably benign 0.23
R3522:Vmn1r216 UTSW 13 23099374 missense possibly damaging 0.54
R3697:Vmn1r216 UTSW 13 23099679 nonsense probably null
R4024:Vmn1r216 UTSW 13 23099891 missense probably damaging 1.00
R4797:Vmn1r216 UTSW 13 23099336 missense probably benign 0.02
R5088:Vmn1r216 UTSW 13 23099303 nonsense probably null
R5412:Vmn1r216 UTSW 13 23099911 missense probably benign 0.03
R5905:Vmn1r216 UTSW 13 23099197 missense probably damaging 1.00
R6006:Vmn1r216 UTSW 13 23099758 missense probably benign 0.01
R6020:Vmn1r216 UTSW 13 23099935 missense probably benign 0.04
R6213:Vmn1r216 UTSW 13 23099169 missense probably benign 0.21
R6897:Vmn1r216 UTSW 13 23099275 nonsense probably null
R7483:Vmn1r216 UTSW 13 23099568 missense probably damaging 1.00
R7487:Vmn1r216 UTSW 13 23099860 missense probably damaging 1.00
R8213:Vmn1r216 UTSW 13 23099525 missense probably benign 0.45
Posted On2013-12-03