Incidental Mutation 'R8970:Gvin1'
ID 683016
Institutional Source Beutler Lab
Gene Symbol Gvin1
Ensembl Gene ENSMUSG00000045868
Gene Name GTPase, very large interferon inducible 1
Synonyms VLIG-1, Iigs1, 9130002C22Rik, VLIG, 9830104F22Rik
MMRRC Submission 068804-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 105755763-105814533 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105762647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 607 (H607Q)
Ref Sequence ENSEMBL: ENSMUSP00000006667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006667] [ENSMUST00000183409]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006667
AA Change: H607Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006667
Gene: ENSMUSG00000045868
AA Change: H607Q

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 probably damaging
Transcript: ENSMUST00000183409
AA Change: H607Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138950
Gene: ENSMUSG00000045868
AA Change: H607Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,545,726 (GRCm39) V467A probably damaging Het
Abca2 T C 2: 25,335,728 (GRCm39) V2113A probably benign Het
Adam10 A G 9: 70,655,458 (GRCm39) N309D probably benign Het
Adcy1 T A 11: 7,099,983 (GRCm39) W698R probably benign Het
Adnp T C 2: 168,031,290 (GRCm39) N7S possibly damaging Het
Ankar A G 1: 72,691,496 (GRCm39) probably null Het
Ankrd34b T A 13: 92,575,590 (GRCm39) I274K probably benign Het
Apela A T 8: 65,489,601 (GRCm39) L6H unknown Het
Ash1l T C 3: 88,976,307 (GRCm39) I2629T probably benign Het
Auts2 C T 5: 132,287,791 (GRCm39) R64K possibly damaging Het
Bms1 A G 6: 118,369,292 (GRCm39) V1003A possibly damaging Het
C2cd3 T C 7: 100,068,971 (GRCm39) V555A Het
C2cd6 T A 1: 59,108,895 (GRCm39) H252L possibly damaging Het
Capn3 G T 2: 120,294,566 (GRCm39) K71N possibly damaging Het
Chct1 A G 11: 85,069,246 (GRCm39) E198G probably benign Het
Clec2l C A 6: 38,657,122 (GRCm39) T195K possibly damaging Het
Col27a1 T C 4: 63,134,105 (GRCm39) S15P unknown Het
Coro2b T C 9: 62,333,809 (GRCm39) probably benign Het
Crocc2 A T 1: 93,116,687 (GRCm39) T233S probably benign Het
Ddb1 A G 19: 10,585,808 (GRCm39) Q174R probably benign Het
Denr C T 5: 124,055,279 (GRCm39) P48L probably damaging Het
Dusp26 A G 8: 31,584,232 (GRCm39) Y113C probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Evi5l A G 8: 4,236,154 (GRCm39) probably benign Het
Fgf2 G T 3: 37,458,767 (GRCm39) V96F probably benign Het
Gpr139 A G 7: 118,744,034 (GRCm39) Y184H probably damaging Het
Gtf3c1 A C 7: 125,272,227 (GRCm39) probably benign Het
Gucy1b2 A G 14: 62,656,664 (GRCm39) V231A possibly damaging Het
Gucy2g T C 19: 55,191,478 (GRCm39) E991G possibly damaging Het
Hal T C 10: 93,325,036 (GRCm39) V15A probably damaging Het
Hes3 A G 4: 152,376,036 (GRCm39) probably null Het
Il11 A G 7: 4,779,181 (GRCm39) L72P probably damaging Het
Iqsec3 T A 6: 121,366,528 (GRCm39) I785F probably damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Lrpprc T A 17: 85,074,483 (GRCm39) T475S probably damaging Het
Lrrc63 T A 14: 75,362,631 (GRCm39) T300S unknown Het
Lsamp A T 16: 41,994,528 (GRCm39) I331F possibly damaging Het
Ltn1 A T 16: 87,212,926 (GRCm39) I545K probably benign Het
Mab21l4 G C 1: 93,087,533 (GRCm39) P107A probably benign Het
Med13l G A 5: 118,883,164 (GRCm39) R1341H probably damaging Het
Msh4 T A 3: 153,575,369 (GRCm39) K669* probably null Het
Myo10 T A 15: 25,803,467 (GRCm39) L1558H possibly damaging Het
Ncbp1 G A 4: 46,170,023 (GRCm39) V699M probably damaging Het
Or12k8 T A 2: 36,975,478 (GRCm39) Y94F probably benign Het
Or56b1b A G 7: 108,164,997 (GRCm39) S2P probably benign Het
Or5b114-ps1 T G 19: 13,353,117 (GRCm39) S264A unknown Het
Or5b99 T A 19: 12,976,353 (GRCm39) M1K probably null Het
Parpbp G A 10: 87,962,186 (GRCm39) R165W probably damaging Het
Pcdhgb7 T A 18: 37,885,631 (GRCm39) M267K probably benign Het
Pitx3 T A 19: 46,125,540 (GRCm39) H68L possibly damaging Het
Ppfia4 A G 1: 134,252,289 (GRCm39) L395P probably damaging Het
Pramel42 T C 5: 94,685,645 (GRCm39) V435A probably benign Het
Ptprh T C 7: 4,583,944 (GRCm39) D216G possibly damaging Het
Ptprs A G 17: 56,730,353 (GRCm39) S1174P possibly damaging Het
Shf A G 2: 122,187,654 (GRCm39) S51P probably benign Het
Sinhcaf A T 6: 148,834,624 (GRCm39) F2I probably damaging Het
Slc19a3 A T 1: 83,000,822 (GRCm39) L65Q probably damaging Het
Srgap2 G A 1: 131,226,104 (GRCm39) L390F Het
Srpk1 T C 17: 28,818,493 (GRCm39) T448A probably benign Het
Stat5a A G 11: 100,771,353 (GRCm39) D612G probably benign Het
Supt4a A T 11: 87,633,645 (GRCm39) E67V probably benign Het
Tango6 T A 8: 107,415,871 (GRCm39) C231S probably damaging Het
Th A G 7: 142,446,796 (GRCm39) L490P probably damaging Het
Tpcn1 C T 5: 120,682,518 (GRCm39) G497S probably damaging Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vmn2r56 T C 7: 12,428,632 (GRCm39) R545G probably damaging Het
Vmn2r84 T C 10: 130,222,244 (GRCm39) T659A probably damaging Het
Vps13c T C 9: 67,852,803 (GRCm39) M2361T probably benign Het
Zfp217 T C 2: 169,956,997 (GRCm39) D667G possibly damaging Het
Zfp952 T G 17: 33,221,810 (GRCm39) C96W probably benign Het
Zfp959 A G 17: 56,204,836 (GRCm39) Q291R possibly damaging Het
Zscan4-ps3 T C 7: 11,344,414 (GRCm39) V124A probably benign Het
Other mutations in Gvin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Gvin1 APN 7 105,757,377 (GRCm39) missense probably benign 0.00
R4860:Gvin1 UTSW 7 105,762,643 (GRCm39) missense possibly damaging 0.95
R4860:Gvin1 UTSW 7 105,762,643 (GRCm39) missense possibly damaging 0.95
R5648:Gvin1 UTSW 7 105,762,606 (GRCm39) missense possibly damaging 0.92
R5806:Gvin1 UTSW 7 105,757,413 (GRCm39) missense probably benign
R8355:Gvin1 UTSW 7 105,757,312 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGGTGACCTCATATGTAGCCG -3'
(R):5'- AATGCTGGGAGGTTTCTGATCC -3'

Sequencing Primer
(F):5'- GACCTCATATGTAGCCGTTCTTTCTG -3'
(R):5'- GAGGTTTCTGATCCTGAAGAACAAC -3'
Posted On 2021-10-11