Incidental Mutation 'R5648:Gvin1'
ID441272
Institutional Source Beutler Lab
Gene Symbol Gvin1
Ensembl Gene ENSMUSG00000045868
Gene NameGTPase, very large interferon inducible 1
Synonyms9130002C22Rik, VLIG, 9830104F22Rik, Iigs1, VLIG-1
MMRRC Submission 043169-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R5648 (G1)
Quality Score121
Status Not validated
Chromosome7
Chromosomal Location106156556-106215326 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106163399 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 621 (I621K)
Ref Sequence ENSEMBL: ENSMUSP00000138950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006667] [ENSMUST00000183409]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006667
AA Change: I621K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006667
Gene: ENSMUSG00000045868
AA Change: I621K

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1655 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183409
AA Change: I621K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138950
Gene: ENSMUSG00000045868
AA Change: I621K

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1655 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,436,498 probably null Het
Akap2 T C 4: 57,854,848 V120A probably damaging Het
Alpk2 A G 18: 65,349,917 V340A probably damaging Het
Cald1 G T 6: 34,762,332 probably null Het
Col24a1 C T 3: 145,358,566 T702I probably benign Het
Ddx50 T C 10: 62,616,270 R725G unknown Het
Dnah9 A T 11: 65,927,755 F68L probably benign Het
Dnmt3b G A 2: 153,677,198 V651M probably damaging Het
Dock1 G A 7: 134,746,954 C299Y probably damaging Het
Epha4 T C 1: 77,398,525 I562V probably benign Het
Esco2 A T 14: 65,831,192 V223D probably damaging Het
Ggt6 T C 11: 72,435,716 I33T possibly damaging Het
Gm10392 A T 11: 77,517,480 D104E probably benign Het
Gm9847 A G 12: 14,495,129 noncoding transcript Het
Gnao1 A T 8: 93,949,442 Y116F probably damaging Het
Hyal6 T C 6: 24,734,236 M56T possibly damaging Het
Hyou1 T A 9: 44,385,249 D490E probably damaging Het
Igsf10 G C 3: 59,328,153 Q1536E probably benign Het
Klk8 T C 7: 43,798,644 S31P possibly damaging Het
Map3k6 A C 4: 133,243,335 I178L probably benign Het
Mycbp2 T A 14: 103,291,342 N427Y probably damaging Het
Ncr1 T A 7: 4,344,520 I228N probably damaging Het
Nefh A T 11: 4,945,233 Y319N probably damaging Het
Olfr1253 A C 2: 89,752,073 C252G probably damaging Het
Pcdhb18 G A 18: 37,490,484 R289Q probably benign Het
Pkhd1 T A 1: 20,558,626 Y699F probably benign Het
Plekhd1 T C 12: 80,720,588 L250P probably damaging Het
Reln A G 5: 21,998,572 V1228A probably benign Het
Rhobtb2 G T 14: 69,797,144 R211S probably damaging Het
Rps6kb1 T C 11: 86,512,871 I305V possibly damaging Het
Slc12a2 G A 18: 57,896,310 G256E possibly damaging Het
Slc4a1ap A G 5: 31,550,785 probably null Het
Thoc1 A G 18: 9,962,390 T92A possibly damaging Het
Ticam1 TCACACA TCACA 17: 56,270,629 probably null Het
Tmem117 T G 15: 95,094,772 S438A possibly damaging Het
Ttll7 A G 3: 146,961,710 N777S probably damaging Het
Ubd T A 17: 37,195,454 V77E probably damaging Het
Ubqln3 A G 7: 104,140,910 S658P probably damaging Het
Vmn1r78 G A 7: 12,152,766 M101I possibly damaging Het
Wdr93 T C 7: 79,777,226 C638R probably benign Het
Zfp983 T A 17: 21,659,031 V50D probably damaging Het
Zhx3 A T 2: 160,781,961 H95Q probably damaging Het
Other mutations in Gvin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Gvin1 APN 7 106158170 missense probably benign 0.00
R4860:Gvin1 UTSW 7 106163436 missense possibly damaging 0.95
R4860:Gvin1 UTSW 7 106163436 missense possibly damaging 0.95
R5806:Gvin1 UTSW 7 106158206 missense probably benign
R8355:Gvin1 UTSW 7 106158105 missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGGTGACCTCATATGTAGCCG -3'
(R):5'- AGGTTTCTGATCCTGAAGAACAAC -3'

Sequencing Primer
(F):5'- GACCTCATATGTAGCCGTTCTTTCTG -3'
(R):5'- TGATCCTGAAGAACAACTTACAAAG -3'
Posted On2016-11-08