Incidental Mutation 'IGL02435:Ric8b'
ID 293245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric8b
Ensembl Gene ENSMUSG00000035620
Gene Name RIC8 guanine nucleotide exchange factor B
Synonyms Ric-8b, Ric-8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02435
Quality Score
Status
Chromosome 10
Chromosomal Location 84753480-84854201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84815940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 194 (N194S)
Ref Sequence ENSEMBL: ENSMUSP00000148897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038523] [ENSMUST00000095385] [ENSMUST00000214693]
AlphaFold Q80XE1
Predicted Effect probably benign
Transcript: ENSMUST00000038523
AA Change: N397S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: N397S

DomainStartEndE-ValueType
Pfam:Ric8 66 538 8.1e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095385
AA Change: N397S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: N397S

DomainStartEndE-ValueType
Pfam:Ric8 66 486 1.2e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214693
AA Change: N194S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,323,333 (GRCm39) probably benign Het
Ankrd12 G T 17: 66,294,151 (GRCm39) S427R probably damaging Het
Atp4a A G 7: 30,416,482 (GRCm39) T420A probably benign Het
Braf C T 6: 39,623,700 (GRCm39) S414N probably benign Het
C1rl T C 6: 124,485,832 (GRCm39) L401P probably damaging Het
Ecpas A G 4: 58,830,325 (GRCm39) probably benign Het
Elmo1 A T 13: 20,773,826 (GRCm39) D612V probably damaging Het
Fbxo15 T C 18: 84,977,351 (GRCm39) S88P probably damaging Het
Glrx3 A G 7: 137,063,125 (GRCm39) N132S possibly damaging Het
Hamp G T 7: 30,643,324 (GRCm39) Q29K probably benign Het
Igfbp2 G A 1: 72,891,245 (GRCm39) R281Q probably damaging Het
Itih3 C T 14: 30,637,711 (GRCm39) A483T probably damaging Het
Mrc1 C T 2: 14,253,671 (GRCm39) Q231* probably null Het
Nif3l1 A G 1: 58,487,020 (GRCm39) T69A possibly damaging Het
Ntrk1 A G 3: 87,696,039 (GRCm39) F157S probably benign Het
Or2ag1b A G 7: 106,288,710 (GRCm39) V76A probably benign Het
Or4a72 A G 2: 89,405,890 (GRCm39) F60S probably damaging Het
Or5b97 A T 19: 12,878,391 (GRCm39) I251N probably damaging Het
Pck2 T C 14: 55,781,847 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,998 (GRCm39) probably null Het
Rlbp1 A G 7: 79,031,414 (GRCm39) F105L probably damaging Het
Sde2 G T 1: 180,693,717 (GRCm39) K402N probably damaging Het
Slc13a3 T C 2: 165,250,860 (GRCm39) H461R possibly damaging Het
Spag17 A T 3: 99,889,760 (GRCm39) I210F possibly damaging Het
Szt2 G A 4: 118,248,020 (GRCm39) R735W probably damaging Het
Tspan6 T C X: 132,793,493 (GRCm39) Y186C probably benign Het
Ugt8a A G 3: 125,660,969 (GRCm39) S508P probably benign Het
Zfp217 T C 2: 169,961,373 (GRCm39) D318G possibly damaging Het
Other mutations in Ric8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02254:Ric8b APN 10 84,816,000 (GRCm39) missense probably damaging 1.00
IGL02388:Ric8b APN 10 84,828,135 (GRCm39) unclassified probably benign
IGL02890:Ric8b APN 10 84,837,731 (GRCm39) missense possibly damaging 0.80
IGL03163:Ric8b APN 10 84,837,686 (GRCm39) missense probably damaging 1.00
IGL03211:Ric8b APN 10 84,837,657 (GRCm39) missense probably damaging 1.00
D4216:Ric8b UTSW 10 84,851,005 (GRCm39) missense probably damaging 0.99
R0491:Ric8b UTSW 10 84,828,086 (GRCm39) missense probably damaging 1.00
R0612:Ric8b UTSW 10 84,837,745 (GRCm39) missense probably damaging 1.00
R1077:Ric8b UTSW 10 84,806,581 (GRCm39) splice site probably benign
R1448:Ric8b UTSW 10 84,783,535 (GRCm39) missense possibly damaging 0.93
R1565:Ric8b UTSW 10 84,815,963 (GRCm39) missense probably benign 0.01
R1617:Ric8b UTSW 10 84,783,475 (GRCm39) missense probably damaging 0.98
R1634:Ric8b UTSW 10 84,806,612 (GRCm39) missense probably damaging 1.00
R1983:Ric8b UTSW 10 84,837,702 (GRCm39) missense probably damaging 0.99
R2339:Ric8b UTSW 10 84,805,888 (GRCm39) missense probably benign 0.00
R2897:Ric8b UTSW 10 84,783,761 (GRCm39) missense probably benign 0.01
R2898:Ric8b UTSW 10 84,783,761 (GRCm39) missense probably benign 0.01
R4657:Ric8b UTSW 10 84,828,001 (GRCm39) missense probably damaging 1.00
R4747:Ric8b UTSW 10 84,753,628 (GRCm39) missense probably benign 0.36
R4953:Ric8b UTSW 10 84,793,946 (GRCm39) missense possibly damaging 0.92
R5277:Ric8b UTSW 10 84,783,516 (GRCm39) missense probably damaging 0.99
R5308:Ric8b UTSW 10 84,783,611 (GRCm39) missense probably benign
R5326:Ric8b UTSW 10 84,828,076 (GRCm39) missense probably damaging 1.00
R6248:Ric8b UTSW 10 84,783,709 (GRCm39) missense probably damaging 1.00
R6782:Ric8b UTSW 10 84,783,391 (GRCm39) missense probably damaging 1.00
R7548:Ric8b UTSW 10 84,783,736 (GRCm39) missense probably damaging 1.00
R8123:Ric8b UTSW 10 84,805,737 (GRCm39) missense probably damaging 1.00
R8507:Ric8b UTSW 10 84,816,039 (GRCm39) missense probably damaging 1.00
R9119:Ric8b UTSW 10 84,783,334 (GRCm39) missense possibly damaging 0.84
R9417:Ric8b UTSW 10 84,761,447 (GRCm39) missense probably benign 0.03
R9698:Ric8b UTSW 10 84,783,361 (GRCm39) missense probably damaging 0.97
Z1176:Ric8b UTSW 10 84,783,408 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16