Incidental Mutation 'IGL03211:Ric8b'
ID413300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric8b
Ensembl Gene ENSMUSG00000035620
Gene NameRIC8 guanine nucleotide exchange factor B
SynonymsRic-8b, Ric-8
Accession Numbers

Genbank: NM_001013441, NM_183172; MGI: 2682307

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03211
Quality Score
Status
Chromosome10
Chromosomal Location84917616-85018337 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85001793 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 488 (I488N)
Ref Sequence ENSEMBL: ENSMUSP00000046981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038523] [ENSMUST00000095385]
Predicted Effect probably damaging
Transcript: ENSMUST00000038523
AA Change: I488N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: I488N

DomainStartEndE-ValueType
Pfam:Ric8 66 538 8.1e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095385
SMART Domains Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620

DomainStartEndE-ValueType
Pfam:Ric8 66 486 1.2e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217175
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(24) : Targeted, other(4) Gene trapped(20)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,872,883 V378I possibly damaging Het
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Ric8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02254:Ric8b APN 10 84980136 missense probably damaging 1.00
IGL02388:Ric8b APN 10 84992271 unclassified probably benign
IGL02435:Ric8b APN 10 84980076 missense probably benign 0.06
IGL02890:Ric8b APN 10 85001867 missense possibly damaging 0.80
IGL03163:Ric8b APN 10 85001822 missense probably damaging 1.00
D4216:Ric8b UTSW 10 85015141 missense probably damaging 0.99
R0491:Ric8b UTSW 10 84992222 missense probably damaging 1.00
R0612:Ric8b UTSW 10 85001881 missense probably damaging 1.00
R1077:Ric8b UTSW 10 84970717 splice site probably benign
R1448:Ric8b UTSW 10 84947671 missense possibly damaging 0.93
R1565:Ric8b UTSW 10 84980099 missense probably benign 0.01
R1617:Ric8b UTSW 10 84947611 missense probably damaging 0.98
R1634:Ric8b UTSW 10 84970748 missense probably damaging 1.00
R1983:Ric8b UTSW 10 85001838 missense probably damaging 0.99
R2339:Ric8b UTSW 10 84970024 missense probably benign 0.00
R2897:Ric8b UTSW 10 84947897 missense probably benign 0.01
R2898:Ric8b UTSW 10 84947897 missense probably benign 0.01
R4657:Ric8b UTSW 10 84992137 missense probably damaging 1.00
R4747:Ric8b UTSW 10 84917764 missense probably benign 0.36
R4953:Ric8b UTSW 10 84958082 missense possibly damaging 0.92
R5277:Ric8b UTSW 10 84947652 missense probably damaging 0.99
R5308:Ric8b UTSW 10 84947747 missense probably benign
R5326:Ric8b UTSW 10 84992212 missense probably damaging 1.00
R6248:Ric8b UTSW 10 84947845 missense probably damaging 1.00
R6782:Ric8b UTSW 10 84947527 missense probably damaging 1.00
R7548:Ric8b UTSW 10 84947872 missense probably damaging 1.00
R8123:Ric8b UTSW 10 84969873 missense probably damaging 1.00
Z1176:Ric8b UTSW 10 84947544 missense probably benign 0.04
Posted On2016-08-02