Incidental Mutation 'R0402:Garin4'
ID 35594
Institutional Source Beutler Lab
Gene Symbol Garin4
Ensembl Gene ENSMUSG00000091017
Gene Name golgi associated RAB2 interactor family member 4
Synonyms 4933417M04Rik, Fam71a
MMRRC Submission 038607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0402 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 190894781-190897014 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190896637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000127945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171798]
AlphaFold B7XG49
Predicted Effect probably benign
Transcript: ENSMUST00000171798
AA Change: D2G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: D2G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.5%
  • 20x: 88.7%
Validation Efficiency 100% (74/74)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,445,115 (GRCm39) K165N probably damaging Het
Adam6b T A 12: 113,453,615 (GRCm39) M144K probably damaging Het
Arhgap44 T C 11: 64,922,903 (GRCm39) probably benign Het
Arl5c T A 11: 97,885,939 (GRCm39) I21F probably damaging Het
Bglap2 C T 3: 88,285,552 (GRCm39) G40D probably damaging Het
Bptf T C 11: 106,964,940 (GRCm39) E1303G probably damaging Het
Calhm1 T C 19: 47,129,896 (GRCm39) T209A probably damaging Het
Ccr8 A G 9: 119,923,976 (GRCm39) probably null Het
Chkb C T 15: 89,313,610 (GRCm39) R65Q probably benign Het
Col4a1 T C 8: 11,249,838 (GRCm39) probably benign Het
Cryzl2 A G 1: 157,292,014 (GRCm39) T98A probably benign Het
D430041D05Rik T C 2: 103,998,509 (GRCm39) T1080A probably damaging Het
Dhx8 C A 11: 101,643,223 (GRCm39) T765N probably damaging Het
Dicer1 T C 12: 104,697,323 (GRCm39) D78G probably benign Het
Drd2 A G 9: 49,316,271 (GRCm39) I344V probably benign Het
Edil3 A T 13: 89,347,570 (GRCm39) probably benign Het
Fbxw19 C T 9: 109,313,493 (GRCm39) G235D probably benign Het
Fzd1 T C 5: 4,805,702 (GRCm39) K627E possibly damaging Het
Garin1b A G 6: 29,323,901 (GRCm39) T209A probably benign Het
Gm10638 A G 8: 87,472,828 (GRCm39) probably benign Het
H6pd G T 4: 150,080,773 (GRCm39) A24E probably damaging Het
Hectd2 G T 19: 36,578,929 (GRCm39) probably null Het
Hps5 A G 7: 46,440,333 (GRCm39) probably benign Het
Irx3 T C 8: 92,527,296 (GRCm39) N136S possibly damaging Het
Kcmf1 T C 6: 72,826,568 (GRCm39) M1V probably null Het
Klrb1 A T 6: 128,687,583 (GRCm39) F104I probably benign Het
Lrfn5 T C 12: 61,886,803 (GRCm39) M197T probably benign Het
Mpdz A C 4: 81,279,677 (GRCm39) M51R possibly damaging Het
Mtbp G T 15: 55,432,466 (GRCm39) E258* probably null Het
Mylk3 T A 8: 86,079,539 (GRCm39) H373L probably damaging Het
Myrfl A G 10: 116,664,882 (GRCm39) S383P probably damaging Het
Nt5c T C 11: 115,381,468 (GRCm39) *195W probably null Het
Ocstamp A G 2: 165,238,184 (GRCm39) V360A possibly damaging Het
Or10ak16 A T 4: 118,750,426 (GRCm39) I49F possibly damaging Het
Or10al6 T A 17: 38,083,284 (GRCm39) C247S probably damaging Het
Or4k35 A G 2: 111,100,208 (GRCm39) F168S probably damaging Het
Or4p19 A T 2: 88,242,378 (GRCm39) V208D probably damaging Het
Or5an9 A G 19: 12,186,953 (GRCm39) T8A probably damaging Het
Otop2 T C 11: 115,217,234 (GRCm39) probably benign Het
Pom121l2 A T 13: 22,172,649 (GRCm39) probably benign Het
Pon2 T A 6: 5,272,410 (GRCm39) K137* probably null Het
Ppip5k2 T A 1: 97,647,579 (GRCm39) Q1049L probably benign Het
Ralgapa2 C T 2: 146,276,729 (GRCm39) V504M probably damaging Het
Rph3a G A 5: 121,080,317 (GRCm39) H654Y probably damaging Het
Sh2d1b1 T C 1: 170,107,342 (GRCm39) probably benign Het
Slc15a2 G A 16: 36,595,960 (GRCm39) T154I probably benign Het
Slc45a3 T C 1: 131,905,265 (GRCm39) V96A possibly damaging Het
Slc7a4 A G 16: 17,393,497 (GRCm39) S101P probably damaging Het
Smco2 T C 6: 146,772,633 (GRCm39) probably benign Het
Spata2 A T 2: 167,325,580 (GRCm39) V413E probably benign Het
Specc1l A G 10: 75,082,260 (GRCm39) E552G probably damaging Het
Sstr5 C T 17: 25,711,008 (GRCm39) V74M probably benign Het
Timm50 G A 7: 28,006,280 (GRCm39) R274W probably damaging Het
Tll2 A G 19: 41,087,132 (GRCm39) V573A possibly damaging Het
Tm7sf3 C A 6: 146,507,685 (GRCm39) R459M possibly damaging Het
Txk A G 5: 72,889,105 (GRCm39) probably null Het
Uroc1 A G 6: 90,324,284 (GRCm39) D436G probably damaging Het
Vmn1r13 T A 6: 57,187,083 (GRCm39) Y81N possibly damaging Het
Vmn2r19 A G 6: 123,313,141 (GRCm39) E737G probably damaging Het
Wfs1 A G 5: 37,134,324 (GRCm39) probably benign Het
Zfp1 G A 8: 112,396,875 (GRCm39) E285K probably damaging Het
Zfp1005 T A 2: 150,111,136 (GRCm39) C609S possibly damaging Het
Zfp661 G A 2: 127,419,640 (GRCm39) Q167* probably null Het
Zswim8 T C 14: 20,760,834 (GRCm39) F36S probably damaging Het
Zw10 A G 9: 48,980,023 (GRCm39) T385A 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
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
R8120:Garin4 UTSW 1 190,895,022 (GRCm39) missense probably damaging 0.99
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'- TCTCGAATATCGGCGCGTACTTG -3'
(R):5'- TTGTAGACCCTGAAGAGAACCTCCC -3'

Sequencing Primer
(F):5'- CGGCGCGTACTTGAATATATC -3'
(R):5'- TGAAGAGAACCTCCCTGGAGTC -3'
Posted On 2013-05-09