Incidental Mutation 'IGL01434:Garin1b'
ID 84270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Garin1b
Ensembl Gene ENSMUSG00000039742
Gene Name golgi associated RAB2 interactor 1B
Synonyms LOC330277, Fam71f1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01434
Quality Score
Status
Chromosome 6
Chromosomal Location 29319139-29336018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29320700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000126496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090487] [ENSMUST00000163229] [ENSMUST00000164560] [ENSMUST00000166462]
AlphaFold Q3UZD7
Predicted Effect probably damaging
Transcript: ENSMUST00000090487
AA Change: V108A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087973
Gene: ENSMUSG00000039742
AA Change: V108A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 136 210 5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163229
SMART Domains Protein: ENSMUSP00000132402
Gene: ENSMUSG00000039742

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164560
AA Change: V108A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126496
Gene: ENSMUSG00000039742
AA Change: V108A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 137 208 7e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166462
AA Change: V108A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132703
Gene: ENSMUSG00000039742
AA Change: V108A

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Pfam:DUF3699 136 210 3.1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171782
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,380,297 (GRCm39) probably benign Het
Adcy7 A G 8: 89,051,472 (GRCm39) N864S probably damaging Het
Anapc7 A G 5: 122,576,279 (GRCm39) D302G probably benign Het
Atm A T 9: 53,419,107 (GRCm39) C782S probably benign Het
Bicdl1 G A 5: 115,808,215 (GRCm39) Q37* probably null Het
Cabin1 T C 10: 75,561,420 (GRCm39) D1027G possibly damaging Het
Cbl T C 9: 44,075,503 (GRCm39) I364V probably damaging Het
Ccer1 T C 10: 97,529,459 (GRCm39) S41P unknown Het
Cenpf G A 1: 189,390,065 (GRCm39) Q1256* probably null Het
Copa T A 1: 171,947,128 (GRCm39) I1093N probably benign Het
Cped1 C T 6: 22,017,004 (GRCm39) L118F probably damaging Het
Cplane2 T C 4: 140,945,964 (GRCm39) V169A probably benign Het
Cstdc4 T A 16: 36,006,777 (GRCm39) V37E probably benign Het
Dner T C 1: 84,361,731 (GRCm39) H626R probably benign Het
Ears2 G A 7: 121,662,311 (GRCm39) probably benign Het
Eif3c A G 7: 126,155,582 (GRCm39) I562T probably damaging Het
Eml6 T C 11: 29,769,090 (GRCm39) Y685C probably damaging Het
Gpt A G 15: 76,582,982 (GRCm39) K321E probably damaging Het
Hspd1 C T 1: 55,120,285 (GRCm39) G306R probably damaging Het
Kmt2c T C 5: 25,614,306 (GRCm39) Y138C probably damaging Het
Lhcgr A G 17: 89,049,865 (GRCm39) Y554H probably damaging Het
Nell1 A T 7: 50,350,956 (GRCm39) K534N probably benign Het
Nob1 A G 8: 108,151,360 (GRCm39) probably benign Het
Or13a17 G A 7: 140,271,531 (GRCm39) A238T probably damaging Het
Phf12 C T 11: 77,914,385 (GRCm39) P60L probably damaging Het
Prkdc A G 16: 15,531,451 (GRCm39) E1358G probably benign Het
Rimbp3 A G 16: 17,029,566 (GRCm39) T997A probably benign Het
Slc9a9 T A 9: 94,901,247 (GRCm39) N393K possibly damaging Het
Sohlh2 T C 3: 55,102,582 (GRCm39) S206P probably damaging Het
Stard10 G A 7: 100,971,187 (GRCm39) V125M probably benign Het
Tff2 G T 17: 31,362,240 (GRCm39) probably null Het
Tha1 T C 11: 117,759,425 (GRCm39) T355A probably benign Het
Tmem120a G T 5: 135,765,864 (GRCm39) F127L possibly damaging Het
Tmem41b A G 7: 109,577,909 (GRCm39) probably benign Het
Tonsl T C 15: 76,515,302 (GRCm39) D1028G probably benign Het
Other mutations in Garin1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Garin1b APN 6 29,323,829 (GRCm39) missense possibly damaging 0.87
R0402:Garin1b UTSW 6 29,323,901 (GRCm39) missense probably benign 0.01
R0467:Garin1b UTSW 6 29,326,606 (GRCm39) missense probably damaging 1.00
R0610:Garin1b UTSW 6 29,326,576 (GRCm39) missense probably benign 0.01
R1773:Garin1b UTSW 6 29,334,152 (GRCm39) missense possibly damaging 0.83
R1950:Garin1b UTSW 6 29,335,815 (GRCm39) splice site probably null
R4259:Garin1b UTSW 6 29,320,800 (GRCm39) missense probably damaging 1.00
R4305:Garin1b UTSW 6 29,326,611 (GRCm39) missense probably damaging 1.00
R4351:Garin1b UTSW 6 29,320,800 (GRCm39) missense probably damaging 1.00
R4508:Garin1b UTSW 6 29,323,764 (GRCm39) missense probably benign 0.04
R5014:Garin1b UTSW 6 29,326,723 (GRCm39) intron probably benign
R5249:Garin1b UTSW 6 29,323,896 (GRCm39) missense probably damaging 1.00
R5506:Garin1b UTSW 6 29,319,297 (GRCm39) missense probably damaging 1.00
R6212:Garin1b UTSW 6 29,319,373 (GRCm39) missense probably damaging 1.00
R6456:Garin1b UTSW 6 29,334,045 (GRCm39) missense probably benign
R6949:Garin1b UTSW 6 29,323,905 (GRCm39) missense probably damaging 1.00
R7047:Garin1b UTSW 6 29,323,809 (GRCm39) missense probably damaging 1.00
R7562:Garin1b UTSW 6 29,323,833 (GRCm39) missense probably damaging 1.00
R8346:Garin1b UTSW 6 29,334,030 (GRCm39) missense probably damaging 1.00
R9061:Garin1b UTSW 6 29,323,902 (GRCm39) missense probably benign 0.27
X0065:Garin1b UTSW 6 29,326,660 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11