Incidental Mutation 'IGL01622:Garin5b'
ID 278623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Garin5b
Ensembl Gene ENSMUSG00000092518
Gene Name golgi associated RAB2 interactor family member 5B
Synonyms Fam71e2, 4930401F20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01622
Quality Score
Status
Chromosome 7
Chromosomal Location 4756225-4774301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4761722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 330 (V330A)
Ref Sequence ENSEMBL: ENSMUSP00000133885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163574] [ENSMUST00000174409]
AlphaFold L7N480
Predicted Effect probably benign
Transcript: ENSMUST00000108580
AA Change: V330A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: V330A

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:DUF3699 99 172 6.5e-23 PFAM
low complexity region 282 296 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
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: V330A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: V330A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Garin5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Garin5b APN 7 4,760,526 (GRCm39) missense probably damaging 0.99
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
R6371:Garin5b UTSW 7 4,762,358 (GRCm39) missense probably benign 0.06
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
Posted On 2015-04-16