Incidental Mutation 'IGL02158:Ric8a'
ID 282331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric8a
Ensembl Gene ENSMUSG00000025485
Gene Name RIC8 guanine nucleotide exchange factor A
Synonyms synembryn, Ric8, RIC-8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02158
Quality Score
Status
Chromosome 7
Chromosomal Location 140437310-140443644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140442270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 507 (T507A)
Ref Sequence ENSEMBL: ENSMUSP00000026558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000210708] [ENSMUST00000210296] [ENSMUST00000211179] [ENSMUST00000209766] [ENSMUST00000210710] [ENSMUST00000211624]
AlphaFold Q3TIR3
Predicted Effect probably benign
Transcript: ENSMUST00000026558
AA Change: T507A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485
AA Change: T507A

DomainStartEndE-ValueType
Pfam:Ric8 66 505 2.3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026559
SMART Domains Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 184 5.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106048
SMART Domains Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 184 8.7e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131850
Predicted Effect probably benign
Transcript: ENSMUST00000137024
SMART Domains Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486

DomainStartEndE-ValueType
Pfam:SIR2 3 178 1.7e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139956
Predicted Effect probably benign
Transcript: ENSMUST00000210708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153498
Predicted Effect probably benign
Transcript: ENSMUST00000210296
Predicted Effect probably benign
Transcript: ENSMUST00000211179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152212
Predicted Effect probably benign
Transcript: ENSMUST00000209766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147815
Predicted Effect probably benign
Transcript: ENSMUST00000210710
Predicted Effect probably benign
Transcript: ENSMUST00000211624
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality during gastrulation. Heterozygotes exhibit impaired spatial learning and increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,902 (GRCm39) probably null Het
Abca2 A G 2: 25,337,891 (GRCm39) probably benign Het
Abcb11 A T 2: 69,130,269 (GRCm39) S262R probably damaging Het
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Adam1a A T 5: 121,657,034 (GRCm39) L753* probably null Het
Ahctf1 A T 1: 179,607,217 (GRCm39) I699N possibly damaging Het
Arl11 C A 14: 61,548,487 (GRCm39) A99E probably damaging Het
Atp5po G A 16: 91,727,289 (GRCm39) R16W probably damaging Het
AW551984 T C 9: 39,510,621 (GRCm39) H238R probably null Het
Bpifb9a C A 2: 154,108,733 (GRCm39) probably benign Het
Carhsp1 A G 16: 8,481,577 (GRCm39) probably benign Het
Ccdc33 T C 9: 57,937,702 (GRCm39) D623G probably damaging Het
Chd6 C A 2: 160,868,212 (GRCm39) R378L possibly damaging Het
Chn2 T C 6: 54,277,230 (GRCm39) probably benign Het
Clgn T G 8: 84,149,765 (GRCm39) I422S probably damaging Het
Col15a1 T A 4: 47,300,606 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c39 T C 19: 39,556,574 (GRCm39) I470T probably benign Het
Dcaf11 T A 14: 55,801,980 (GRCm39) probably null Het
Dnah1 G T 14: 31,022,924 (GRCm39) T1071K probably benign Het
Dnah2 T A 11: 69,348,949 (GRCm39) M2513L probably benign Het
Dqx1 A G 6: 83,035,891 (GRCm39) probably benign Het
Gm1587 T C 14: 78,036,282 (GRCm39) E8G unknown Het
Hydin T C 8: 111,336,598 (GRCm39) I5125T possibly damaging Het
Ighv5-9 G T 12: 113,625,563 (GRCm39) P60Q probably damaging Het
Itga7 T G 10: 128,789,651 (GRCm39) L993R possibly damaging Het
Itpr3 A G 17: 27,317,416 (GRCm39) N857S probably damaging Het
Krt23 C T 11: 99,383,490 (GRCm39) probably benign Het
Lrp1 T C 10: 127,390,140 (GRCm39) N3093S probably benign Het
Mms22l T C 4: 24,505,349 (GRCm39) F203S probably damaging Het
Morn5 A G 2: 35,947,088 (GRCm39) D122G probably damaging Het
Mpp2 G T 11: 101,954,088 (GRCm39) L220I probably benign Het
Mrgpra6 A T 7: 46,835,700 (GRCm39) Y240* probably null Het
Mtmr12 T C 15: 12,238,016 (GRCm39) I165T probably damaging Het
Mylk2 C A 2: 152,761,077 (GRCm39) N428K probably damaging Het
Nfil3 A G 13: 53,122,188 (GRCm39) Y239H probably damaging Het
Notch1 A G 2: 26,350,351 (GRCm39) L2263P probably damaging Het
Or2g7 T A 17: 38,378,158 (GRCm39) I32N probably damaging Het
Or8b101 A G 9: 38,020,425 (GRCm39) M148V probably benign Het
P3h3 A T 6: 124,830,055 (GRCm39) Y387N probably damaging Het
Pdcd6ip A T 9: 113,509,121 (GRCm39) Y324* probably null Het
Plcb2 C A 2: 118,541,844 (GRCm39) R922L probably benign Het
Pml T C 9: 58,154,286 (GRCm39) T196A probably benign Het
Ppp2r1b C A 9: 50,772,909 (GRCm39) Q65K probably benign Het
Sec16a A G 2: 26,306,644 (GRCm39) probably null Het
Slc46a3 G T 5: 147,823,044 (GRCm39) T266N probably damaging Het
Smg1 A G 7: 117,812,169 (GRCm39) S41P possibly damaging Het
Snrnp200 T A 2: 127,079,403 (GRCm39) N1837K probably benign Het
Sptan1 A G 2: 29,920,336 (GRCm39) T2318A probably damaging Het
St7l C T 3: 104,782,148 (GRCm39) T175I possibly damaging Het
Tmc7 G A 7: 118,137,434 (GRCm39) R703C probably damaging Het
Urah A G 7: 140,416,799 (GRCm39) probably benign Het
Vmn1r42 A T 6: 89,822,296 (GRCm39) I91N probably damaging Het
Yy1 T A 12: 108,780,525 (GRCm39) probably benign Het
Other mutations in Ric8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0277:Ric8a UTSW 7 140,437,813 (GRCm39) unclassified probably benign
R0529:Ric8a UTSW 7 140,440,806 (GRCm39) missense probably damaging 1.00
R0707:Ric8a UTSW 7 140,437,886 (GRCm39) unclassified probably benign
R1272:Ric8a UTSW 7 140,442,289 (GRCm39) missense probably benign 0.22
R1627:Ric8a UTSW 7 140,438,091 (GRCm39) missense probably damaging 0.98
R1655:Ric8a UTSW 7 140,440,808 (GRCm39) missense probably benign 0.01
R2281:Ric8a UTSW 7 140,441,851 (GRCm39) missense probably benign 0.44
R2327:Ric8a UTSW 7 140,439,471 (GRCm39) missense probably damaging 1.00
R3721:Ric8a UTSW 7 140,441,874 (GRCm39) critical splice donor site probably null
R4287:Ric8a UTSW 7 140,441,335 (GRCm39) missense probably damaging 1.00
R4504:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4505:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4506:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4507:Ric8a UTSW 7 140,438,429 (GRCm39) missense probably benign 0.03
R4552:Ric8a UTSW 7 140,441,250 (GRCm39) missense probably damaging 1.00
R5500:Ric8a UTSW 7 140,438,228 (GRCm39) missense probably benign 0.43
R6737:Ric8a UTSW 7 140,438,789 (GRCm39) splice site probably null
R8150:Ric8a UTSW 7 140,441,269 (GRCm39) missense probably damaging 1.00
R8391:Ric8a UTSW 7 140,437,916 (GRCm39) missense probably benign 0.00
R8788:Ric8a UTSW 7 140,438,806 (GRCm39) missense probably benign 0.00
R8966:Ric8a UTSW 7 140,438,379 (GRCm39) missense probably benign
R9449:Ric8a UTSW 7 140,437,393 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16