Incidental Mutation 'R2079:Garin3'
ID 229370
Institutional Source Beutler Lab
Gene Symbol Garin3
Ensembl Gene ENSMUSG00000020401
Gene Name golgi associated RAB2 interactor 3
Synonyms Fam71b, OTTMUSG00000005491
MMRRC Submission 040084-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2079 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46295555-46298812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 46295934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 102 (V102G)
Ref Sequence ENSEMBL: ENSMUSP00000055079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063166]
AlphaFold Q5STT6
Predicted Effect probably benign
Transcript: ENSMUST00000063166
AA Change: V102G

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: V102G

DomainStartEndE-ValueType
Pfam:DUF3699 120 192 1.2e-32 PFAM
low complexity region 241 361 N/A INTRINSIC
low complexity region 497 523 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
SCOP:d1g7sa3 586 650 1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139280
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,598,746 (GRCm39) R862S probably benign Het
Aldoa T C 7: 126,396,076 (GRCm39) D164G probably null Het
Ankle2 T C 5: 110,392,371 (GRCm39) V459A probably damaging Het
Atp11a A G 8: 12,907,902 (GRCm39) Y482C probably damaging Het
BC035947 A G 1: 78,488,561 (GRCm39) probably benign Het
Cfap65 G A 1: 74,956,358 (GRCm39) R1074C probably benign Het
Ciart G T 3: 95,786,350 (GRCm39) H242N probably damaging Het
Cidec T A 6: 113,402,615 (GRCm39) M220L probably benign Het
Clca3a1 A G 3: 144,713,534 (GRCm39) I699T possibly damaging Het
Csf2rb2 T C 15: 78,172,207 (GRCm39) D401G probably benign Het
Cyp2j6 C A 4: 96,419,962 (GRCm39) L256F possibly damaging Het
Ddr2 A T 1: 169,832,345 (GRCm39) Y148* probably null Het
Depdc5 T A 5: 33,104,018 (GRCm39) I373N possibly damaging Het
Dpp10 A T 1: 123,360,721 (GRCm39) M268K probably damaging Het
Fam118b C A 9: 35,134,960 (GRCm39) V216F possibly damaging Het
Fancd2 T C 6: 113,532,148 (GRCm39) V487A probably damaging Het
Fhad1 T A 4: 141,718,513 (GRCm39) R147* probably null Het
Flt3 A G 5: 147,291,893 (GRCm39) S544P probably damaging Het
Frem3 C A 8: 81,341,732 (GRCm39) Q1342K probably benign Het
Gimap4 T C 6: 48,667,881 (GRCm39) M84T possibly damaging Het
Gm20481 T C 17: 35,189,196 (GRCm39) K569R probably benign Het
Gm4871 A C 5: 144,966,741 (GRCm39) D247E possibly damaging Het
Gm5141 A T 13: 62,922,424 (GRCm39) N248K probably benign Het
Gulo A G 14: 66,227,832 (GRCm39) Y367H probably damaging Het
Hap1 T C 11: 100,244,572 (GRCm39) E120G probably damaging Het
Heatr3 T A 8: 88,868,404 (GRCm39) N51K probably damaging Het
Hipk2 T C 6: 38,795,720 (GRCm39) D183G probably damaging Het
Hnrnpll T A 17: 80,342,806 (GRCm39) T439S probably benign Het
Hoxd3 A C 2: 74,574,610 (GRCm39) E85D probably damaging Het
Ipo8 A T 6: 148,690,660 (GRCm39) M694K probably damaging Het
Jag2 A G 12: 112,883,997 (GRCm39) I194T probably damaging Het
Jrkl A T 9: 13,244,864 (GRCm39) F266I probably damaging Het
Kcnt1 A G 2: 25,790,260 (GRCm39) I436V possibly damaging Het
Kdm3b A T 18: 34,936,570 (GRCm39) D284V probably damaging Het
Khdrbs2 A G 1: 32,506,955 (GRCm39) T200A probably benign Het
Kmt2c T C 5: 25,557,278 (GRCm39) D1143G possibly damaging Het
Kremen1 G GGGGT 11: 5,151,794 (GRCm39) probably null Het
Lama2 A C 10: 27,245,049 (GRCm39) I244S probably damaging Het
Lama5 G A 2: 179,867,301 (GRCm39) P99S possibly damaging Het
Lrrc30 A T 17: 67,938,875 (GRCm39) L235Q possibly damaging Het
Man2b2 C T 5: 36,971,716 (GRCm39) V667M possibly damaging Het
Mmp2 T A 8: 93,576,817 (GRCm39) N77K probably damaging Het
Myo1a A G 10: 127,556,482 (GRCm39) E1009G probably benign Het
Ndst1 A G 18: 60,828,581 (GRCm39) Y658H probably damaging Het
Nlrp10 A G 7: 108,524,835 (GRCm39) L215P possibly damaging Het
Nrbp1 T C 5: 31,408,417 (GRCm39) F526L probably benign Het
Or10p21 T C 10: 128,847,898 (GRCm39) V248A probably damaging Het
Or51t4 T A 7: 102,598,702 (GRCm39) F333L probably benign Het
Padi2 T C 4: 140,660,507 (GRCm39) L329P probably damaging Het
Pcdhb20 A G 18: 37,638,224 (GRCm39) Q250R probably benign Het
Pcdhb3 T A 18: 37,436,362 (GRCm39) L776Q possibly damaging Het
Pik3cb A T 9: 98,942,257 (GRCm39) M700K probably benign Het
Pla2g6 C T 15: 79,197,194 (GRCm39) V127M probably damaging Het
Rabgef1 T C 5: 130,219,776 (GRCm39) S80P probably damaging Het
Sema3a C T 5: 13,501,098 (GRCm39) T47I possibly damaging Het
Sik2 C T 9: 50,818,706 (GRCm39) probably null Het
Sin3a T C 9: 56,996,807 (GRCm39) V112A probably benign Het
Slc26a6 G A 9: 108,736,257 (GRCm39) A472T probably damaging Het
Syne1 A G 10: 5,311,502 (GRCm39) V561A probably benign Het
Syt16 C T 12: 74,285,073 (GRCm39) T422I probably damaging Het
Tlr11 A T 14: 50,598,437 (GRCm39) H141L probably damaging Het
Tmem252 A T 19: 24,655,017 (GRCm39) E131D probably benign Het
Trim55 T G 3: 19,698,830 (GRCm39) L20V probably damaging Het
Uqcrfs1 A T 13: 30,725,291 (GRCm39) V83D probably benign Het
Utf1 C T 7: 139,524,808 (GRCm39) R309* probably null Het
Uxs1 T C 1: 43,804,133 (GRCm39) T261A probably damaging Het
Vmn1r24 T C 6: 57,932,655 (GRCm39) I288V probably benign Het
Vmn1r80 A T 7: 11,927,121 (GRCm39) D77V probably damaging Het
Vmn2r74 T G 7: 85,606,383 (GRCm39) H321P probably benign Het
Zfp638 T C 6: 83,930,371 (GRCm39) probably null Het
Zwilch T A 9: 64,060,856 (GRCm39) Q332L probably damaging Het
Zwilch G T 9: 64,060,857 (GRCm39) Q332K probably damaging Het
Other mutations in Garin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Garin3 APN 11 46,296,224 (GRCm39) nonsense probably null
IGL02375:Garin3 APN 11 46,297,379 (GRCm39) missense probably damaging 0.99
IGL02571:Garin3 APN 11 46,296,072 (GRCm39) missense probably damaging 0.99
R0013:Garin3 UTSW 11 46,297,631 (GRCm39) missense unknown
R1902:Garin3 UTSW 11 46,297,838 (GRCm39) missense probably benign 0.44
R1985:Garin3 UTSW 11 46,298,693 (GRCm39) makesense probably null
R2151:Garin3 UTSW 11 46,296,158 (GRCm39) nonsense probably null
R2857:Garin3 UTSW 11 46,296,039 (GRCm39) missense probably damaging 1.00
R2859:Garin3 UTSW 11 46,296,039 (GRCm39) missense probably damaging 1.00
R3807:Garin3 UTSW 11 46,295,780 (GRCm39) missense possibly damaging 0.77
R4232:Garin3 UTSW 11 46,298,232 (GRCm39) missense possibly damaging 0.51
R4342:Garin3 UTSW 11 46,298,043 (GRCm39) missense possibly damaging 0.67
R4679:Garin3 UTSW 11 46,295,640 (GRCm39) missense possibly damaging 0.68
R5119:Garin3 UTSW 11 46,297,863 (GRCm39) missense probably damaging 1.00
R5207:Garin3 UTSW 11 46,295,990 (GRCm39) missense probably benign 0.13
R5540:Garin3 UTSW 11 46,295,715 (GRCm39) missense probably damaging 0.99
R6618:Garin3 UTSW 11 46,298,126 (GRCm39) missense probably damaging 1.00
R6862:Garin3 UTSW 11 46,298,418 (GRCm39) missense possibly damaging 0.78
R7036:Garin3 UTSW 11 46,298,235 (GRCm39) missense
R7489:Garin3 UTSW 11 46,298,268 (GRCm39) missense
R7809:Garin3 UTSW 11 46,298,631 (GRCm39) missense
R7822:Garin3 UTSW 11 46,295,730 (GRCm39) missense
R7996:Garin3 UTSW 11 46,295,889 (GRCm39) missense
R8984:Garin3 UTSW 11 46,295,695 (GRCm39) nonsense probably null
R9324:Garin3 UTSW 11 46,295,810 (GRCm39) missense
R9532:Garin3 UTSW 11 46,297,673 (GRCm39) missense
Z1088:Garin3 UTSW 11 46,298,550 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TACAACGACAGCTGTACAAGG -3'
(R):5'- TTCTCGTGCGTCAGAAGAGG -3'

Sequencing Primer
(F):5'- ACAAGGGAGGAGAGTATGATATTTTC -3'
(R):5'- ACACAGCTGTAGGTAAAAAGTTCG -3'
Posted On 2014-09-17