Incidental Mutation 'IGL01563:Trove2'
ID90892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trove2
Ensembl Gene ENSMUSG00000018199
Gene NameTROVE domain family, member 2
Synonyms1810007I17Rik, A530054J02Rik, SS-A/Ro, Ssa, Ssa2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL01563
Quality Score
Status
Chromosome1
Chromosomal Location143750790-143777068 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143761382 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 364 (V364A)
Ref Sequence ENSEMBL: ENSMUSP00000125623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159879]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000018343
Predicted Effect probably benign
Transcript: ENSMUST00000159879
AA Change: V364A

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125623
Gene: ENSMUSG00000018199
AA Change: V364A

DomainStartEndE-ValueType
Pfam:TROVE 16 369 9.7e-99 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,627,983 E2205G probably damaging Het
Arid2 G A 15: 96,372,397 V1464I probably damaging Het
Axin2 A G 11: 108,923,805 Q173R probably damaging Het
Best1 A G 19: 9,986,735 F454L probably benign Het
CK137956 T G 4: 127,970,635 K67T possibly damaging Het
Col14a1 G A 15: 55,487,941 G1555R unknown Het
Csad G A 15: 102,187,163 S153F probably damaging Het
Cyp4f40 A T 17: 32,673,956 D315V probably damaging Het
Galnt3 G A 2: 66,097,757 A265V probably damaging Het
Gm5901 C A 7: 105,377,515 Y163* probably null Het
Golga4 A G 9: 118,527,006 probably benign Het
Greb1l A G 18: 10,469,399 D138G probably damaging Het
Has1 A T 17: 17,843,662 probably benign Het
Ighv1-42 A G 12: 114,937,184 S94P probably damaging Het
Katnb1 T A 8: 95,098,159 L569Q probably damaging Het
Nedd1 C T 10: 92,698,169 probably null Het
Olfr1359 A G 13: 21,703,073 E24G probably benign Het
Olfr893 T A 9: 38,209,701 I214N probably damaging Het
Pdcd4 G A 19: 53,929,121 R463H probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps19bp1 A G 15: 80,261,331 M84T probably benign Het
Sass6 A T 3: 116,605,198 D43V probably damaging Het
Senp6 G A 9: 80,122,008 S551N probably benign Het
Sh2d2a A G 3: 87,852,125 E273G probably damaging Het
Slc16a14 T C 1: 84,912,187 probably benign Het
Smcr8 C T 11: 60,783,845 R816C possibly damaging Het
Trappc8 A T 18: 20,837,046 N962K probably benign Het
Trpc6 A G 9: 8,656,603 E677G probably damaging Het
Ubap2 G T 4: 41,195,998 P961T probably damaging Het
Vmn1r23 A G 6: 57,926,076 V239A possibly damaging Het
Vps41 T C 13: 18,782,727 probably benign Het
Vwf A T 6: 125,591,165 D341V probably damaging Het
Zfp618 C T 4: 63,079,896 P45L probably benign Het
Other mutations in Trove2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01578:Trove2 APN 1 143761300 missense probably damaging 0.99
IGL02006:Trove2 APN 1 143760346 splice site probably benign
IGL02155:Trove2 APN 1 143761269 critical splice donor site probably null
IGL02219:Trove2 APN 1 143761275 missense possibly damaging 0.94
IGL02637:Trove2 APN 1 143770788 missense probably damaging 1.00
IGL03013:Trove2 APN 1 143770708 missense probably damaging 1.00
IGL03075:Trove2 APN 1 143770771 missense probably benign
R0415:Trove2 UTSW 1 143760075 missense probably benign 0.00
R0443:Trove2 UTSW 1 143765923 splice site probably benign
R0479:Trove2 UTSW 1 143757751 missense possibly damaging 0.72
R1696:Trove2 UTSW 1 143757837 missense probably damaging 0.99
R1728:Trove2 UTSW 1 143760014 missense probably benign
R1728:Trove2 UTSW 1 143760034 missense probably benign
R1729:Trove2 UTSW 1 143760014 missense probably benign
R1729:Trove2 UTSW 1 143760034 missense probably benign
R1730:Trove2 UTSW 1 143760014 missense probably benign
R1730:Trove2 UTSW 1 143760034 missense probably benign
R1739:Trove2 UTSW 1 143760014 missense probably benign
R1739:Trove2 UTSW 1 143760034 missense probably benign
R1762:Trove2 UTSW 1 143760014 missense probably benign
R1762:Trove2 UTSW 1 143760034 missense probably benign
R1783:Trove2 UTSW 1 143760014 missense probably benign
R1783:Trove2 UTSW 1 143760034 missense probably benign
R1784:Trove2 UTSW 1 143760014 missense probably benign
R1784:Trove2 UTSW 1 143760034 missense probably benign
R1785:Trove2 UTSW 1 143760014 missense probably benign
R1785:Trove2 UTSW 1 143760034 missense probably benign
R1857:Trove2 UTSW 1 143770750 missense probably benign 0.00
R2049:Trove2 UTSW 1 143760034 missense probably benign
R2130:Trove2 UTSW 1 143760034 missense probably benign
R2131:Trove2 UTSW 1 143760034 missense probably benign
R2133:Trove2 UTSW 1 143760034 missense probably benign
R2141:Trove2 UTSW 1 143760034 missense probably benign
R2142:Trove2 UTSW 1 143760034 missense probably benign
R2372:Trove2 UTSW 1 143770882 nonsense probably null
R2929:Trove2 UTSW 1 143757878 missense possibly damaging 0.92
R4191:Trove2 UTSW 1 143770786 missense probably benign 0.00
R5520:Trove2 UTSW 1 143770771 missense probably benign
R5821:Trove2 UTSW 1 143766765 missense probably benign 0.09
R7432:Trove2 UTSW 1 143765810 missense probably benign 0.43
R7658:Trove2 UTSW 1 143770873 missense probably damaging 1.00
Posted On2013-12-09