Incidental Mutation 'R1493:Ric1'
ID 165590
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 039544-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R1493 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29557249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 445 (Y445H)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043610
AA Change: Y445H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: Y445H

DomainStartEndE-ValueType
Blast:WD40 242 278 5e-7 BLAST
SCOP:d1gxra_ 254 379 2e-4 SMART
Blast:WD40 285 334 3e-6 BLAST
Blast:WD40 482 520 5e-6 BLAST
low complexity region 642 653 N/A INTRINSIC
Pfam:RIC1 732 991 1.9e-86 PFAM
low complexity region 1120 1132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160221
Predicted Effect unknown
Transcript: ENSMUST00000162492
AA Change: Y373H
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: Y373H

DomainStartEndE-ValueType
Blast:WD40 171 207 4e-7 BLAST
SCOP:d1gxra_ 183 308 2e-4 SMART
Blast:WD40 214 263 2e-6 BLAST
low complexity region 534 545 N/A INTRINSIC
Pfam:RIC1 624 883 1.6e-86 PFAM
low complexity region 1012 1024 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Abca15 A T 7: 119,981,513 (GRCm39) D989V probably benign Het
Abcg8 T C 17: 85,004,107 (GRCm39) S472P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Adprm A G 11: 66,932,702 (GRCm39) V69A possibly damaging Het
Ankrd27 C T 7: 35,307,790 (GRCm39) S343L probably benign Het
Arfgef3 A G 10: 18,506,627 (GRCm39) S833P probably damaging Het
Arhgap42 T G 9: 9,030,798 (GRCm39) E339D probably benign Het
Axdnd1 T A 1: 156,174,271 (GRCm39) M799L probably benign Het
Cars2 A T 8: 11,567,817 (GRCm39) probably null Het
Cd7 T C 11: 120,928,967 (GRCm39) T95A probably damaging Het
Cep290 A T 10: 100,398,043 (GRCm39) T2200S probably benign Het
Cep44 A G 8: 56,985,870 (GRCm39) S299P probably damaging Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Ehbp1 T A 11: 21,956,866 (GRCm39) E1204V probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm4559 A T 7: 141,828,050 (GRCm39) C17* probably null Het
Helz A G 11: 107,504,751 (GRCm39) I413V probably benign Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Hrh1 G A 6: 114,457,838 (GRCm39) G373D probably damaging Het
Hs3st5 G A 10: 36,708,870 (GRCm39) G135D probably damaging Het
Iqcf6 T C 9: 106,504,641 (GRCm39) Y102H probably benign Het
Kmt2a A T 9: 44,758,202 (GRCm39) S1124R probably damaging Het
Map3k5 A G 10: 19,904,859 (GRCm39) D387G probably damaging Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Musk C T 4: 58,354,003 (GRCm39) A352V probably benign Het
Myef2l A G 3: 10,153,944 (GRCm39) K238E probably damaging Het
Nans G A 4: 46,500,761 (GRCm39) E218K probably damaging Het
Niban1 T A 1: 151,581,841 (GRCm39) V479D probably damaging Het
Ninl T G 2: 150,822,015 (GRCm39) D29A probably damaging Het
Nod1 A G 6: 54,921,041 (GRCm39) F426L probably damaging Het
Notch4 T A 17: 34,786,656 (GRCm39) C265* probably null Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or51h1 T C 7: 102,308,220 (GRCm39) L64P probably damaging Het
Or52e18 T A 7: 104,609,709 (GRCm39) T77S probably damaging Het
Orai3 G A 7: 127,373,077 (GRCm39) V193M possibly damaging Het
Prkag1 T C 15: 98,711,551 (GRCm39) Y271C probably benign Het
Rfc4 T C 16: 22,936,758 (GRCm39) I116V probably damaging Het
Rnmt G A 18: 68,446,778 (GRCm39) D268N probably damaging Het
Rsph1 C T 17: 31,484,873 (GRCm39) G139D probably damaging Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Shmt2 A G 10: 127,354,812 (GRCm39) probably null Het
Sorbs3 T C 14: 70,430,076 (GRCm39) T353A possibly damaging Het
Stk25 T C 1: 93,553,322 (GRCm39) T260A probably benign Het
Tasor A G 14: 27,171,926 (GRCm39) S425G probably damaging Het
Thap12 A G 7: 98,364,645 (GRCm39) H271R probably benign Het
Tmprss13 A G 9: 45,247,405 (GRCm39) T256A probably benign Het
Tpo A T 12: 30,181,808 (GRCm39) I29N possibly damaging Het
Trpc2 A T 7: 101,739,783 (GRCm39) N569I probably damaging Het
Unc13c T C 9: 73,546,350 (GRCm39) T1607A probably benign Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Vps18 A G 2: 119,127,613 (GRCm39) Y812C probably damaging Het
Zfp692 A T 11: 58,204,866 (GRCm39) I409F probably damaging Het
Zfp735 G A 11: 73,601,305 (GRCm39) C83Y possibly damaging Het
Zic1 A G 9: 91,246,809 (GRCm39) S88P probably damaging Het
Other mutations in Ric1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Ric1 APN 19 29,572,762 (GRCm39) missense probably damaging 1.00
IGL00902:Ric1 APN 19 29,544,631 (GRCm39) missense probably benign 0.05
IGL01405:Ric1 APN 19 29,544,770 (GRCm39) splice site probably benign
IGL01629:Ric1 APN 19 29,581,381 (GRCm39) missense probably benign 0.02
IGL01688:Ric1 APN 19 29,555,014 (GRCm39) missense probably benign 0.00
IGL01966:Ric1 APN 19 29,572,963 (GRCm39) missense probably benign 0.33
IGL02123:Ric1 APN 19 29,572,200 (GRCm39) missense probably benign
IGL02590:Ric1 APN 19 29,544,881 (GRCm39) splice site probably benign
IGL02655:Ric1 APN 19 29,572,851 (GRCm39) missense probably damaging 1.00
IGL02699:Ric1 APN 19 29,499,957 (GRCm39) missense possibly damaging 0.51
IGL02718:Ric1 APN 19 29,510,640 (GRCm39) missense probably damaging 1.00
IGL03026:Ric1 APN 19 29,577,233 (GRCm39) missense probably benign 0.02
IGL03142:Ric1 APN 19 29,578,380 (GRCm39) missense possibly damaging 0.89
R0109:Ric1 UTSW 19 29,564,077 (GRCm39) synonymous silent
R0336:Ric1 UTSW 19 29,565,193 (GRCm39) missense probably damaging 0.96
R0362:Ric1 UTSW 19 29,578,411 (GRCm39) critical splice donor site probably null
R0676:Ric1 UTSW 19 29,555,047 (GRCm39) missense probably benign
R0734:Ric1 UTSW 19 29,572,218 (GRCm39) missense possibly damaging 0.66
R1004:Ric1 UTSW 19 29,579,757 (GRCm39) missense probably benign 0.00
R1148:Ric1 UTSW 19 29,557,249 (GRCm39) missense probably benign
R1148:Ric1 UTSW 19 29,557,249 (GRCm39) missense probably benign
R1216:Ric1 UTSW 19 29,555,135 (GRCm39) missense probably benign 0.00
R1848:Ric1 UTSW 19 29,578,213 (GRCm39) splice site probably null
R1872:Ric1 UTSW 19 29,580,068 (GRCm39) missense probably benign 0.32
R1942:Ric1 UTSW 19 29,578,416 (GRCm39) splice site probably benign
R2143:Ric1 UTSW 19 29,510,653 (GRCm39) missense probably damaging 0.96
R2143:Ric1 UTSW 19 29,510,652 (GRCm39) missense probably damaging 1.00
R2679:Ric1 UTSW 19 29,581,430 (GRCm39) missense probably benign
R2878:Ric1 UTSW 19 29,579,730 (GRCm39) missense possibly damaging 0.77
R2970:Ric1 UTSW 19 29,555,118 (GRCm39) missense probably benign 0.15
R3420:Ric1 UTSW 19 29,544,990 (GRCm39) missense probably damaging 0.96
R3421:Ric1 UTSW 19 29,544,990 (GRCm39) missense probably damaging 0.96
R3940:Ric1 UTSW 19 29,548,162 (GRCm39) missense probably damaging 1.00
R4004:Ric1 UTSW 19 29,557,201 (GRCm39) missense probably benign 0.44
R4225:Ric1 UTSW 19 29,580,131 (GRCm39) missense possibly damaging 0.89
R4280:Ric1 UTSW 19 29,563,950 (GRCm39) missense probably damaging 1.00
R4283:Ric1 UTSW 19 29,563,950 (GRCm39) missense probably damaging 1.00
R4516:Ric1 UTSW 19 29,548,165 (GRCm39) missense probably benign 0.17
R4702:Ric1 UTSW 19 29,575,417 (GRCm39) missense possibly damaging 0.85
R4824:Ric1 UTSW 19 29,563,242 (GRCm39) missense probably damaging 1.00
R4835:Ric1 UTSW 19 29,572,936 (GRCm39) missense possibly damaging 0.80
R5860:Ric1 UTSW 19 29,577,245 (GRCm39) missense possibly damaging 0.91
R5883:Ric1 UTSW 19 29,573,389 (GRCm39) missense probably damaging 1.00
R5965:Ric1 UTSW 19 29,548,171 (GRCm39) missense probably damaging 0.99
R6141:Ric1 UTSW 19 29,572,842 (GRCm39) missense probably damaging 1.00
R6236:Ric1 UTSW 19 29,572,826 (GRCm39) missense possibly damaging 0.91
R6271:Ric1 UTSW 19 29,544,765 (GRCm39) splice site probably null
R6345:Ric1 UTSW 19 29,581,485 (GRCm39) missense probably benign 0.09
R6371:Ric1 UTSW 19 29,539,426 (GRCm39) missense probably benign 0.35
R6547:Ric1 UTSW 19 29,572,226 (GRCm39) missense probably damaging 1.00
R6924:Ric1 UTSW 19 29,546,788 (GRCm39) missense probably damaging 0.98
R6969:Ric1 UTSW 19 29,563,182 (GRCm39) missense probably damaging 1.00
R6970:Ric1 UTSW 19 29,565,172 (GRCm39) missense probably damaging 1.00
R6993:Ric1 UTSW 19 29,564,013 (GRCm39) missense probably damaging 1.00
R7296:Ric1 UTSW 19 29,561,978 (GRCm39) critical splice donor site probably null
R7434:Ric1 UTSW 19 29,552,180 (GRCm39) missense probably damaging 1.00
R7619:Ric1 UTSW 19 29,557,175 (GRCm39) missense probably benign 0.32
R7850:Ric1 UTSW 19 29,572,293 (GRCm39) missense probably benign
R7941:Ric1 UTSW 19 29,510,659 (GRCm39) missense probably damaging 1.00
R8115:Ric1 UTSW 19 29,563,973 (GRCm39) missense probably damaging 1.00
R8117:Ric1 UTSW 19 29,552,191 (GRCm39) missense probably benign 0.08
R8477:Ric1 UTSW 19 29,575,183 (GRCm39) missense probably damaging 1.00
R9023:Ric1 UTSW 19 29,548,143 (GRCm39) splice site probably benign
R9044:Ric1 UTSW 19 29,577,294 (GRCm39) missense probably damaging 1.00
R9727:Ric1 UTSW 19 29,575,258 (GRCm39) missense probably damaging 1.00
R9733:Ric1 UTSW 19 29,580,030 (GRCm39) missense possibly damaging 0.94
X0064:Ric1 UTSW 19 29,565,202 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGGTGGAAGGTACGGTTCAAAC -3'
(R):5'- TCTAATCAGGGAGTCAGCAGCAGTC -3'

Sequencing Primer
(F):5'- CGTTCAGTAATAAAACTAAGACGGC -3'
(R):5'- TCAGCAGCAGTCAGTAAATGAAC -3'
Posted On 2014-03-28