Incidental Mutation 'R6371:Garin5b'
ID 513518
Institutional Source Beutler Lab
Gene Symbol Garin5b
Ensembl Gene ENSMUSG00000092518
Gene Name golgi associated RAB2 interactor family member 5B
Synonyms Fam71e2, 4930401F20Rik
MMRRC Submission 044521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6371 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4756225-4774301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4762358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 257 (V257A)
Ref Sequence ENSEMBL: ENSMUSP00000133885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163574] [ENSMUST00000174409]
AlphaFold L7N480
Predicted Effect probably benign
Transcript: ENSMUST00000163574
SMART Domains Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174409
AA Change: V257A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: V257A

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:DUF3699 93 168 5.8e-24 PFAM
low complexity region 277 291 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b C T 12: 113,453,894 (GRCm39) S237L probably damaging Het
Ank3 T G 10: 69,644,709 (GRCm39) L58V probably damaging Het
Arsb A T 13: 93,926,574 (GRCm39) I115F possibly damaging Het
Atad2b T C 12: 5,023,970 (GRCm39) Y32H probably damaging Het
Brd1 A C 15: 88,598,201 (GRCm39) M515R probably benign Het
Cbx7 A G 15: 79,803,023 (GRCm39) S30P possibly damaging Het
Cdk12 A G 11: 98,136,114 (GRCm39) T1123A unknown Het
Cep170b A G 12: 112,707,379 (GRCm39) D375G probably damaging Het
Clcn3 T C 8: 61,390,369 (GRCm39) K164E probably benign Het
Clip4 A C 17: 72,163,459 (GRCm39) K677T probably damaging Het
Clrn2 T C 5: 45,617,540 (GRCm39) I137T possibly damaging Het
Cntln T C 4: 84,802,816 (GRCm39) S39P probably damaging Het
Crocc2 T A 1: 93,143,353 (GRCm39) N1318K probably benign Het
Emc1 C T 4: 139,098,976 (GRCm39) Q820* probably null Het
Fbxl2 G A 9: 113,818,451 (GRCm39) T170I probably damaging Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,875,260 (GRCm39) E1745K probably damaging Het
Hspg2 T C 4: 137,269,006 (GRCm39) Y2213H probably damaging Het
Ifnar2 T C 16: 91,184,986 (GRCm39) Y24H possibly damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Itgb2 C A 10: 77,384,431 (GRCm39) P184H probably damaging Het
Kcnb2 T A 1: 15,781,436 (GRCm39) D769E probably benign Het
Lrp1b A G 2: 40,741,666 (GRCm39) M3087T possibly damaging Het
Ltbp3 A G 19: 5,795,800 (GRCm39) probably null Het
Ms4a6b A G 19: 11,497,728 (GRCm39) E9G probably damaging Het
Nat3 G A 8: 67,976,831 (GRCm39) probably null Het
Ndufaf1 A T 2: 119,490,534 (GRCm39) D175E probably damaging Het
Nop58 T G 1: 59,750,471 (GRCm39) probably benign Het
Or10al6 A G 17: 38,083,326 (GRCm39) T261A probably benign Het
Or8s16 A G 15: 98,211,219 (GRCm39) Y71H possibly damaging Het
P3h4 C T 11: 100,302,575 (GRCm39) E354K probably benign Het
Plekhm2 T G 4: 141,356,843 (GRCm39) T787P possibly damaging Het
Ppia C T 11: 6,368,230 (GRCm39) T37I probably benign Het
Reln T A 5: 22,200,511 (GRCm39) M1330L probably benign Het
Ric1 A G 19: 29,539,426 (GRCm39) E53G probably benign Het
Sgip1 T A 4: 102,823,482 (GRCm39) V721E probably damaging Het
Slc33a1 A T 3: 63,850,709 (GRCm39) D538E probably benign Het
Son T C 16: 91,471,629 (GRCm39) Het
Srebf1 A T 11: 60,094,341 (GRCm39) S591R probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Taok2 G A 7: 126,469,319 (GRCm39) R1170W probably damaging Het
Tsc2 A T 17: 24,845,688 (GRCm39) V210E probably benign Het
Ttc6 T A 12: 57,775,249 (GRCm39) N1648K possibly damaging Het
Vgll3 C T 16: 65,636,131 (GRCm39) P94L probably damaging Het
Vmn2r54 A T 7: 12,349,362 (GRCm39) V740E probably damaging Het
Yeats2 A G 16: 20,040,460 (GRCm39) E1127G possibly damaging Het
Zfp709 T A 8: 72,643,329 (GRCm39) Y252N probably damaging Het
Other mutations in Garin5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Garin5b APN 7 4,760,526 (GRCm39) missense probably damaging 0.99
IGL01622:Garin5b APN 7 4,761,722 (GRCm39) missense probably benign 0.16
IGL01623:Garin5b APN 7 4,761,722 (GRCm39) missense probably benign 0.16
IGL01944:Garin5b APN 7 4,773,694 (GRCm39) missense possibly damaging 0.94
IGL03013:Garin5b APN 7 4,761,632 (GRCm39) missense probably benign 0.14
IGL03029:Garin5b APN 7 4,760,839 (GRCm39) missense possibly damaging 0.78
R0153:Garin5b UTSW 7 4,773,286 (GRCm39) missense probably damaging 0.99
R0523:Garin5b UTSW 7 4,762,392 (GRCm39) missense possibly damaging 0.74
R0981:Garin5b UTSW 7 4,760,588 (GRCm39) splice site probably null
R1428:Garin5b UTSW 7 4,760,687 (GRCm39) missense possibly damaging 0.68
R1736:Garin5b UTSW 7 4,761,153 (GRCm39) missense probably damaging 1.00
R1929:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R1993:Garin5b UTSW 7 4,761,017 (GRCm39) missense probably damaging 1.00
R2016:Garin5b UTSW 7 4,762,397 (GRCm39) missense probably damaging 1.00
R2256:Garin5b UTSW 7 4,774,020 (GRCm39) missense probably benign 0.01
R2270:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R2271:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R2272:Garin5b UTSW 7 4,761,186 (GRCm39) missense probably benign 0.00
R4288:Garin5b UTSW 7 4,773,722 (GRCm39) missense possibly damaging 0.91
R4653:Garin5b UTSW 7 4,761,054 (GRCm39) missense possibly damaging 0.95
R4812:Garin5b UTSW 7 4,762,071 (GRCm39) missense probably damaging 1.00
R4860:Garin5b UTSW 7 4,760,468 (GRCm39) critical splice donor site probably null
R4860:Garin5b UTSW 7 4,760,468 (GRCm39) critical splice donor site probably null
R5037:Garin5b UTSW 7 4,761,575 (GRCm39) missense possibly damaging 0.64
R5044:Garin5b UTSW 7 4,761,660 (GRCm39) missense probably benign 0.00
R5491:Garin5b UTSW 7 4,760,925 (GRCm39) missense probably benign 0.05
R5559:Garin5b UTSW 7 4,761,449 (GRCm39) missense probably damaging 1.00
R5919:Garin5b UTSW 7 4,773,385 (GRCm39) missense possibly damaging 0.92
R6025:Garin5b UTSW 7 4,761,143 (GRCm39) missense probably benign 0.01
R6038:Garin5b UTSW 7 4,756,594 (GRCm39) splice site probably null
R6038:Garin5b UTSW 7 4,756,594 (GRCm39) splice site probably null
R6164:Garin5b UTSW 7 4,773,677 (GRCm39) missense probably damaging 0.99
R6470:Garin5b UTSW 7 4,760,850 (GRCm39) missense probably benign 0.16
R6546:Garin5b UTSW 7 4,761,464 (GRCm39) missense probably benign 0.06
R6603:Garin5b UTSW 7 4,761,431 (GRCm39) missense possibly damaging 0.95
R7037:Garin5b UTSW 7 4,761,584 (GRCm39) utr 3 prime probably benign
R7381:Garin5b UTSW 7 4,760,681 (GRCm39) missense
R8743:Garin5b UTSW 7 4,760,814 (GRCm39) missense
R9066:Garin5b UTSW 7 4,773,518 (GRCm39) intron probably benign
R9072:Garin5b UTSW 7 4,762,253 (GRCm39) missense
R9138:Garin5b UTSW 7 4,773,406 (GRCm39) missense
R9352:Garin5b UTSW 7 4,761,605 (GRCm39) missense
R9373:Garin5b UTSW 7 4,760,712 (GRCm39) missense
R9462:Garin5b UTSW 7 4,761,330 (GRCm39) missense
Z1177:Garin5b UTSW 7 4,760,727 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CAGGTTCATGTAGGTGGCAG -3'
(R):5'- CCAAGGTGAAGTAGTCAGTGTG -3'

Sequencing Primer
(F):5'- CAGAGGGTGGGTATTGCTCATAC -3'
(R):5'- AGATTCAAGTGTGTGAAAGTATGTG -3'
Posted On 2018-04-27