Incidental Mutation 'R8120:Garin4'
ID 631428
Institutional Source Beutler Lab
Gene Symbol Garin4
Ensembl Gene ENSMUSG00000091017
Gene Name golgi associated RAB2 interactor family member 4
Synonyms 4933417M04Rik, Fam71a
MMRRC Submission 067549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8120 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190894781-190897014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 190895022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 540 (Q540H)
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
AlphaFold B7XG49
Predicted Effect probably damaging
Transcript: ENSMUST00000171798
AA Change: Q540H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: Q540H

DomainStartEndE-ValueType
Pfam:DUF3699 120 193 3.6e-31 PFAM
low complexity region 214 227 N/A INTRINSIC
low complexity region 505 513 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,349,460 (GRCm39) Q239L probably benign Het
Abca12 T C 1: 71,298,540 (GRCm39) I2361V possibly damaging Het
Abcc8 T C 7: 45,786,108 (GRCm39) E655G probably benign Het
Ablim1 C T 19: 57,035,360 (GRCm39) V662I probably benign Het
Acte1 A G 7: 143,425,524 (GRCm39) T58A probably benign Het
Als2cl A C 9: 110,714,460 (GRCm39) I103L possibly damaging Het
Arhgef26 A T 3: 62,248,796 (GRCm39) D370V probably damaging Het
Brwd1 A C 16: 95,820,649 (GRCm39) D1292E probably benign Het
Cdc5l T C 17: 45,718,796 (GRCm39) T607A probably benign Het
Cfhr1 T C 1: 139,475,583 (GRCm39) Y296C unknown Het
Cubn A T 2: 13,336,471 (GRCm39) C2452S probably damaging Het
Dgcr2 A T 16: 17,675,183 (GRCm39) Y187* probably null Het
Dhodh G A 8: 110,328,057 (GRCm39) T172I probably benign Het
Dnah6 G A 6: 73,002,769 (GRCm39) R3876C probably damaging Het
Dnai4 G A 4: 102,923,531 (GRCm39) R433W probably damaging Het
Farsb A T 1: 78,439,475 (GRCm39) N389K probably benign Het
Fryl T C 5: 73,228,527 (GRCm39) T1735A probably benign Het
Gpcpd1 C T 2: 132,395,943 (GRCm39) R136H probably damaging Het
Gpr171 T A 3: 59,005,406 (GRCm39) Y123F probably damaging Het
Hcar1 C A 5: 124,017,068 (GRCm39) V208F probably damaging Het
Hgf T A 5: 16,818,779 (GRCm39) L524M probably damaging Het
Itga2b A T 11: 102,360,368 (GRCm39) H57Q probably damaging Het
Itpripl2 G T 7: 118,089,508 (GRCm39) N350K probably damaging Het
Limk2 C T 11: 3,298,589 (GRCm39) probably null Het
Nae1 A T 8: 105,246,267 (GRCm39) V315E probably damaging Het
Nars1 T C 18: 64,637,422 (GRCm39) Y386C probably benign Het
Odr4 T C 1: 150,260,177 (GRCm39) probably null Het
Or10j3 C T 1: 173,031,502 (GRCm39) T193I probably benign Het
Or6z5 A T 7: 6,477,119 (GRCm39) R3S probably benign Het
Pcnx3 C T 19: 5,717,574 (GRCm39) A1512T probably benign Het
Pde1b A G 15: 103,430,524 (GRCm39) D176G possibly damaging Het
Pde4dip T A 3: 97,614,254 (GRCm39) T1855S probably null Het
Prr12 A G 7: 44,684,166 (GRCm39) Y1625H probably damaging Het
Psmc2 T C 5: 22,005,566 (GRCm39) Y216H probably damaging Het
Ptchd3 A T 11: 121,733,034 (GRCm39) E641D probably benign Het
Rtf1 A G 2: 119,531,602 (GRCm39) T110A probably damaging Het
Rusc1 C A 3: 88,996,513 (GRCm39) W690L probably damaging Het
Sardh A G 2: 27,108,863 (GRCm39) V624A possibly damaging Het
Slc17a9 G A 2: 180,374,308 (GRCm39) G125S probably benign Het
Smpdl3a A T 10: 57,683,547 (GRCm39) N219I probably damaging Het
Spo11 G T 2: 172,827,251 (GRCm39) D155Y probably damaging Het
Stk38l A G 6: 146,660,099 (GRCm39) T44A probably benign Het
Tceanc2 A T 4: 107,034,829 (GRCm39) I11N probably benign Het
Tead2 A T 7: 44,865,752 (GRCm39) probably benign Het
Tpk1 A G 6: 43,445,930 (GRCm39) probably null Het
Ttn T C 2: 76,593,835 (GRCm39) N20602D probably damaging Het
Tub T A 7: 108,624,803 (GRCm39) probably null Het
Uba2 A T 7: 33,867,812 (GRCm39) S42T probably benign Het
Vangl1 T A 3: 102,070,758 (GRCm39) R393* probably null Het
Washc3 G A 10: 88,037,159 (GRCm39) probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp267 A T 3: 36,218,640 (GRCm39) N221I possibly damaging Het
Zfp386 C T 12: 116,018,573 (GRCm39) P81S unknown Het
Zw10 A T 9: 48,985,413 (GRCm39) E616D probably benign Het
Other mutations in Garin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Garin4 APN 1 190,895,224 (GRCm39) missense probably benign 0.00
IGL01541:Garin4 APN 1 190,896,606 (GRCm39) nonsense probably null
IGL02364:Garin4 APN 1 190,895,713 (GRCm39) missense probably benign 0.03
IGL02573:Garin4 APN 1 190,896,067 (GRCm39) missense probably damaging 1.00
IGL02705:Garin4 APN 1 190,896,499 (GRCm39) missense probably damaging 1.00
IGL03057:Garin4 APN 1 190,895,141 (GRCm39) missense probably benign 0.01
IGL03283:Garin4 APN 1 190,895,029 (GRCm39) missense probably benign 0.08
R0234:Garin4 UTSW 1 190,895,105 (GRCm39) missense probably benign 0.00
R0234:Garin4 UTSW 1 190,895,105 (GRCm39) missense probably benign 0.00
R0402:Garin4 UTSW 1 190,896,637 (GRCm39) missense probably benign 0.03
R0635:Garin4 UTSW 1 190,895,924 (GRCm39) missense probably benign
R0750:Garin4 UTSW 1 190,896,682 (GRCm39) start gained probably benign
R1118:Garin4 UTSW 1 190,896,682 (GRCm39) start gained probably benign
R1521:Garin4 UTSW 1 190,896,219 (GRCm39) missense probably benign 0.00
R1573:Garin4 UTSW 1 190,896,682 (GRCm39) start gained probably benign
R1654:Garin4 UTSW 1 190,895,678 (GRCm39) missense probably benign 0.00
R1699:Garin4 UTSW 1 190,896,018 (GRCm39) missense probably benign 0.01
R1900:Garin4 UTSW 1 190,896,631 (GRCm39) missense possibly damaging 0.76
R2912:Garin4 UTSW 1 190,895,425 (GRCm39) missense probably benign 0.00
R2939:Garin4 UTSW 1 190,896,103 (GRCm39) missense possibly damaging 0.54
R3747:Garin4 UTSW 1 190,896,207 (GRCm39) missense probably damaging 1.00
R4133:Garin4 UTSW 1 190,895,205 (GRCm39) missense probably benign 0.05
R6038:Garin4 UTSW 1 190,894,919 (GRCm39) missense probably damaging 0.98
R6038:Garin4 UTSW 1 190,894,919 (GRCm39) missense probably damaging 0.98
R7179:Garin4 UTSW 1 190,896,218 (GRCm39) missense probably damaging 1.00
R7182:Garin4 UTSW 1 190,895,548 (GRCm39) missense probably damaging 0.99
R7261:Garin4 UTSW 1 190,896,308 (GRCm39) missense unknown
R7326:Garin4 UTSW 1 190,896,550 (GRCm39) missense probably benign 0.00
R7363:Garin4 UTSW 1 190,895,910 (GRCm39) missense probably damaging 0.99
R7960:Garin4 UTSW 1 190,895,645 (GRCm39) missense probably benign 0.02
R8916:Garin4 UTSW 1 190,895,857 (GRCm39) missense probably benign 0.00
R9011:Garin4 UTSW 1 190,895,258 (GRCm39) missense probably benign 0.08
R9090:Garin4 UTSW 1 190,895,153 (GRCm39) missense probably damaging 1.00
R9165:Garin4 UTSW 1 190,895,258 (GRCm39) missense probably benign 0.04
R9189:Garin4 UTSW 1 190,894,900 (GRCm39) missense possibly damaging 0.65
R9271:Garin4 UTSW 1 190,895,153 (GRCm39) missense probably damaging 1.00
Z1176:Garin4 UTSW 1 190,895,942 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTGGATTCCAGGGATTTGCC -3'
(R):5'- TGTTGGCGATGACAAGGAC -3'

Sequencing Primer
(F):5'- AGGTCACTGTCTCCATGA -3'
(R):5'- CAAGCGCAATAGGTGGCAC -3'
Posted On 2020-06-30