Incidental Mutation 'R5211:Garin1a'
ID 403128
Institutional Source Beutler Lab
Gene Symbol Garin1a
Ensembl Gene ENSMUSG00000079652
Gene Name golgi associated RAB2 interactor 1A
Synonyms Fam71f2
MMRRC Submission 042785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5211 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29279592-29290679 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 29286098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 128 (K128*)
Ref Sequence ENSEMBL: ENSMUSP00000132049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115286] [ENSMUST00000167131] [ENSMUST00000167608]
AlphaFold B2RXB0
Predicted Effect probably null
Transcript: ENSMUST00000115286
AA Change: K186*
SMART Domains Protein: ENSMUSP00000110941
Gene: ENSMUSG00000079652
AA Change: K186*

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 null
Transcript: ENSMUST00000167131
AA Change: K128*
SMART Domains Protein: ENSMUSP00000132049
Gene: ENSMUSG00000079652
AA Change: K128*

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: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,394,233 (GRCm39) S181P probably benign Het
Adgrf5 A T 17: 43,733,511 (GRCm39) T112S probably benign Het
Ascc2 T C 11: 4,623,399 (GRCm39) V545A possibly damaging Het
Bmp2 A T 2: 133,396,550 (GRCm39) S69C probably damaging Het
Btaf1 T A 19: 36,973,962 (GRCm39) I1378K probably benign Het
Ces2b C T 8: 105,561,695 (GRCm39) T263I possibly damaging Het
Cntn5 A T 9: 9,704,894 (GRCm39) V635D possibly damaging Het
Dock6 T C 9: 21,731,648 (GRCm39) E1218G probably benign Het
Eml6 T C 11: 29,804,145 (GRCm39) I319V probably benign Het
Esd T C 14: 74,978,632 (GRCm39) S65P probably damaging Het
Exoc1l C A 5: 76,664,250 (GRCm39) T113K possibly damaging Het
Fstl3 A T 10: 79,616,012 (GRCm39) Q166L probably benign Het
Gcn1 T A 5: 115,757,371 (GRCm39) S2445T probably benign Het
Gfy C A 7: 44,827,282 (GRCm39) L271F possibly damaging Het
Gjc2 A G 11: 59,068,284 (GRCm39) V66A possibly damaging Het
H3c4 G T 13: 23,760,015 (GRCm39) G14C possibly damaging Het
Itm2c T A 1: 85,834,249 (GRCm39) V188E probably damaging Het
Jmjd1c C G 10: 67,067,795 (GRCm39) S1766C probably damaging Het
Kcnn3 A G 3: 89,428,538 (GRCm39) T255A probably benign Het
Kdm4d A C 9: 14,374,400 (GRCm39) V486G probably benign Het
Krt18 T G 15: 101,939,888 (GRCm39) I362S probably damaging Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Ly6f G A 15: 75,143,652 (GRCm39) V120M probably damaging Het
Map3k4 A G 17: 12,451,321 (GRCm39) V1524A possibly damaging Het
Mrgprh T C 17: 13,095,889 (GRCm39) V43A probably benign Het
Mx2 A T 16: 97,348,633 (GRCm39) M269L probably damaging Het
Myrfl C T 10: 116,634,535 (GRCm39) V620I probably benign Het
Nlrp9b G A 7: 19,783,381 (GRCm39) C908Y probably damaging Het
Nyap2 T A 1: 81,064,991 (GRCm39) M1K probably null Het
Olfml3 A T 3: 103,644,515 (GRCm39) H51Q probably benign Het
Or11h6 C T 14: 50,880,710 (GRCm39) T324I possibly damaging Het
Pcdhb1 G A 18: 37,399,704 (GRCm39) V552I probably benign Het
Pm20d1 T A 1: 131,734,647 (GRCm39) I353N possibly damaging Het
Sbk2 A G 7: 4,965,966 (GRCm39) F73L possibly damaging Het
Scn10a A C 9: 119,490,298 (GRCm39) L548R possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slmap T C 14: 26,204,117 (GRCm39) Y68C probably damaging Het
Syde2 T C 3: 145,707,093 (GRCm39) V611A probably benign Het
Sympk A G 7: 18,769,814 (GRCm39) M164V probably benign Het
Syt17 T C 7: 118,041,626 (GRCm39) S43G probably benign Het
Ubr1 T C 2: 120,723,651 (GRCm39) T1303A possibly damaging Het
Vmn2r100 A G 17: 19,746,257 (GRCm39) Y535C possibly damaging 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
R4553:Garin1a UTSW 6 29,287,705 (GRCm39) missense probably benign 0.45
R5197:Garin1a UTSW 6 29,281,221 (GRCm39) start gained probably benign
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'- AATCTATGACCGGACGCAGC -3'
(R):5'- GTCCCTTATTTGCAATGACATAGC -3'

Sequencing Primer
(F):5'- GACGCAGCGCATCCTCC -3'
(R):5'- ACATACGAGTGCGTGCA -3'
Posted On 2016-07-22