Incidental Mutation 'R3807:Garin3'
ID 274985
Institutional Source Beutler Lab
Gene Symbol Garin3
Ensembl Gene ENSMUSG00000020401
Gene Name golgi associated RAB2 interactor 3
Synonyms Fam71b, OTTMUSG00000005491
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 46295555-46298812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46295780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 51 (A51T)
Ref Sequence ENSEMBL: ENSMUSP00000055079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063166]
AlphaFold Q5STT6
Predicted Effect possibly damaging
Transcript: ENSMUST00000063166
AA Change: A51T

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055079
Gene: ENSMUSG00000020401
AA Change: A51T

DomainStartEndE-ValueType
Pfam:DUF3699 120 192 1.2e-32 PFAM
low complexity region 241 361 N/A INTRINSIC
low complexity region 497 523 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
SCOP:d1g7sa3 586 650 1e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139280
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Garin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Garin3 APN 11 46,296,224 (GRCm39) nonsense probably null
IGL02375:Garin3 APN 11 46,297,379 (GRCm39) missense probably damaging 0.99
IGL02571:Garin3 APN 11 46,296,072 (GRCm39) missense probably damaging 0.99
R0013:Garin3 UTSW 11 46,297,631 (GRCm39) missense unknown
R1902:Garin3 UTSW 11 46,297,838 (GRCm39) missense probably benign 0.44
R1985:Garin3 UTSW 11 46,298,693 (GRCm39) makesense probably null
R2079:Garin3 UTSW 11 46,295,934 (GRCm39) missense probably benign 0.14
R2151:Garin3 UTSW 11 46,296,158 (GRCm39) nonsense probably null
R2857:Garin3 UTSW 11 46,296,039 (GRCm39) missense probably damaging 1.00
R2859:Garin3 UTSW 11 46,296,039 (GRCm39) missense probably damaging 1.00
R4232:Garin3 UTSW 11 46,298,232 (GRCm39) missense possibly damaging 0.51
R4342:Garin3 UTSW 11 46,298,043 (GRCm39) missense possibly damaging 0.67
R4679:Garin3 UTSW 11 46,295,640 (GRCm39) missense possibly damaging 0.68
R5119:Garin3 UTSW 11 46,297,863 (GRCm39) missense probably damaging 1.00
R5207:Garin3 UTSW 11 46,295,990 (GRCm39) missense probably benign 0.13
R5540:Garin3 UTSW 11 46,295,715 (GRCm39) missense probably damaging 0.99
R6618:Garin3 UTSW 11 46,298,126 (GRCm39) missense probably damaging 1.00
R6862:Garin3 UTSW 11 46,298,418 (GRCm39) missense possibly damaging 0.78
R7036:Garin3 UTSW 11 46,298,235 (GRCm39) missense
R7489:Garin3 UTSW 11 46,298,268 (GRCm39) missense
R7809:Garin3 UTSW 11 46,298,631 (GRCm39) missense
R7822:Garin3 UTSW 11 46,295,730 (GRCm39) missense
R7996:Garin3 UTSW 11 46,295,889 (GRCm39) missense
R8984:Garin3 UTSW 11 46,295,695 (GRCm39) nonsense probably null
R9324:Garin3 UTSW 11 46,295,810 (GRCm39) missense
R9532:Garin3 UTSW 11 46,297,673 (GRCm39) missense
Z1088:Garin3 UTSW 11 46,298,550 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AAACCTTGCTGGGAGATGGG -3'
(R):5'- TCGTCTGGCATGTTCTTCACAG -3'

Sequencing Primer
(F):5'- CCTTTCTTGGGAACACGATTTG -3'
(R):5'- CACAGACTTTAGCTGGTCGG -3'
Posted On 2015-04-02