Incidental Mutation 'R2897:Ric8b'
ID 260857
Institutional Source Beutler Lab
Gene Symbol Ric8b
Ensembl Gene ENSMUSG00000035620
Gene Name RIC8 guanine nucleotide exchange factor B
Synonyms Ric-8b, Ric-8
MMRRC Submission 040485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2897 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 84753480-84854201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84783761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 206 (D206E)
Ref Sequence ENSEMBL: ENSMUSP00000093032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038523] [ENSMUST00000095385] [ENSMUST00000214693]
AlphaFold Q80XE1
Predicted Effect probably benign
Transcript: ENSMUST00000038523
AA Change: D206E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000046981
Gene: ENSMUSG00000035620
AA Change: D206E

DomainStartEndE-ValueType
Pfam:Ric8 66 538 8.1e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095385
AA Change: D206E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000093032
Gene: ENSMUSG00000035620
AA Change: D206E

DomainStartEndE-ValueType
Pfam:Ric8 66 486 1.2e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217175
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (72/73)
Allele List at MGI

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

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,640 (GRCm39) V1015A probably benign Het
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Acap3 G C 4: 155,989,388 (GRCm39) probably null Het
Adamts14 T C 10: 61,040,689 (GRCm39) D879G probably damaging Het
Akap1 A T 11: 88,735,605 (GRCm39) C352* probably null Het
Ankk1 T A 9: 49,333,122 (GRCm39) T121S probably benign Het
Ankrd6 T C 4: 32,860,438 (GRCm39) S2G probably damaging Het
Anks1 G T 17: 28,204,337 (GRCm39) probably null Het
Apob G A 12: 8,060,356 (GRCm39) G2946D probably damaging Het
Atm A C 9: 53,419,105 (GRCm39) C782W probably damaging Het
Atp1a4 A T 1: 172,074,257 (GRCm39) I332N probably damaging Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Cdh20 A T 1: 104,875,199 (GRCm39) D327V probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Csn1s2a A G 5: 87,929,680 (GRCm39) H93R unknown Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Cyp1b1 G A 17: 80,021,160 (GRCm39) T194M probably benign Het
Dbt T A 3: 116,317,061 (GRCm39) V79E probably damaging Het
Dcx A G X: 142,706,428 (GRCm39) probably benign Het
Dnm3 G A 1: 162,113,643 (GRCm39) probably benign Het
Erbin C T 13: 104,022,705 (GRCm39) E45K probably damaging Het
Fastkd1 A G 2: 69,532,960 (GRCm39) L469P probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10271 A G 10: 116,808,495 (GRCm39) L7S probably damaging Het
Gm5087 T C 14: 13,158,805 (GRCm38) noncoding transcript Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmcn1 C T 1: 150,678,624 (GRCm39) C499Y probably damaging Het
Ifna1 C A 4: 88,768,450 (GRCm39) Q43K probably benign Het
Ikbkb G T 8: 23,159,693 (GRCm39) Q432K possibly damaging Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Krt78 T C 15: 101,855,541 (GRCm39) R757G probably benign Het
Lmx1a T A 1: 167,658,109 (GRCm39) probably benign Het
Lpxn T A 19: 12,796,722 (GRCm39) S81T probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mis18bp1 T C 12: 65,180,360 (GRCm39) D981G probably benign Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Mtrf1l T C 10: 5,767,565 (GRCm39) R184G probably benign Het
Muc19 T C 15: 91,822,550 (GRCm39) noncoding transcript Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Nlrc4 T A 17: 74,755,040 (GRCm39) M59L probably benign Het
Nuak2 A T 1: 132,252,791 (GRCm39) H115L probably damaging Het
Oog1 T A 12: 87,655,178 (GRCm39) I272K probably damaging Het
Or10aa1 T C 1: 173,869,699 (GRCm39) F61S probably damaging Het
Or52a20 A T 7: 103,366,749 (GRCm39) Y316F probably benign Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Pde5a T C 3: 122,572,651 (GRCm39) I344T probably benign Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pja1 T C X: 98,510,754 (GRCm39) E385G probably benign Het
Psma6 A T 12: 55,454,829 (GRCm39) I53L probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Shroom2 G T X: 151,443,035 (GRCm39) T710K probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc38a7 A G 8: 96,572,424 (GRCm39) probably benign Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmeff1 T A 4: 48,658,831 (GRCm39) Y101* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T A 2: 76,549,500 (GRCm39) T23399S probably damaging Het
Vipas39 A G 12: 87,289,297 (GRCm39) V389A possibly damaging Het
Vps41 T C 13: 18,994,598 (GRCm39) probably benign Het
Zfp329 A T 7: 12,544,413 (GRCm39) H370Q probably damaging Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D probably 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
IGL02435:Ric8b APN 10 84,815,940 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- TGAATCTCGCTGCAAAGCTC -3'
(R):5'- TTTTGTGTGCAGCTGTAAGAAC -3'

Sequencing Primer
(F):5'- GCTCTGTAACCTCCTAAGGAAGTG -3'
(R):5'- GTGTGCAGCTGTAAGAACAACCC -3'
Posted On 2015-01-23