Incidental Mutation 'R4553:Garin1a'
ID 341777
Institutional Source Beutler Lab
Gene Symbol Garin1a
Ensembl Gene ENSMUSG00000079652
Gene Name golgi associated RAB2 interactor 1A
Synonyms Fam71f2
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4553 (G1)
Quality Score 202
Status Not validated
Chromosome 6
Chromosomal Location 29279592-29290679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29287705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 210 (I210M)
Ref Sequence ENSEMBL: ENSMUSP00000110941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115286] [ENSMUST00000167131] [ENSMUST00000167608]
AlphaFold B2RXB0
Predicted Effect probably benign
Transcript: ENSMUST00000115286
AA Change: I210M

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110941
Gene: ENSMUSG00000079652
AA Change: I210M

DomainStartEndE-ValueType
Pfam:DUF3699 105 175 8.3e-28 PFAM
low complexity region 188 204 N/A INTRINSIC
low complexity region 212 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167131
AA Change: I152M

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000132049
Gene: ENSMUSG00000079652
AA Change: I152M

DomainStartEndE-ValueType
Pfam:DUF3699 46 119 7.1e-29 PFAM
low complexity region 130 146 N/A INTRINSIC
low complexity region 154 170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167608
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI

All alleles(4) : Gene trapped(4)
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,951,254 (GRCm39) Y49C probably damaging Het
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Adra2a T C 19: 54,035,166 (GRCm39) V174A possibly damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Dppa2 A G 16: 48,130,877 (GRCm39) Y3C possibly damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Nog A G 11: 89,192,248 (GRCm39) L200P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in Garin1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Garin1a APN 6 29,285,979 (GRCm39) missense probably damaging 1.00
3-1:Garin1a UTSW 6 29,290,489 (GRCm39) missense possibly damaging 0.94
R0389:Garin1a UTSW 6 29,281,391 (GRCm39) missense possibly damaging 0.92
R1348:Garin1a UTSW 6 29,283,284 (GRCm39) missense probably benign
R1661:Garin1a UTSW 6 29,285,937 (GRCm39) missense probably damaging 1.00
R1982:Garin1a UTSW 6 29,285,921 (GRCm39) missense probably benign 0.35
R5197:Garin1a UTSW 6 29,281,221 (GRCm39) start gained probably benign
R5211:Garin1a UTSW 6 29,286,098 (GRCm39) nonsense probably null
R5918:Garin1a UTSW 6 29,285,942 (GRCm39) missense probably null 0.99
R5997:Garin1a UTSW 6 29,290,423 (GRCm39) nonsense probably null
R7316:Garin1a UTSW 6 29,286,101 (GRCm39) missense probably benign 0.00
R7480:Garin1a UTSW 6 29,281,435 (GRCm39) splice site probably null
R8218:Garin1a UTSW 6 29,286,072 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAGATCAGCAGCTCTTGG -3'
(R):5'- CGGATGCCACAGAACCTTTTC -3'

Sequencing Primer
(F):5'- ATCAGCAGCTCTTGGGTCCAC -3'
(R):5'- CTTGCAACCAAGTTTAGGGGAC -3'
Posted On 2015-09-24