Incidental Mutation 'R6141:Ric1'
ID 488603
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 044288-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R6141 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29572842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 761 (S761P)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043610
AA Change: S761P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: S761P

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 probably benign
Transcript: ENSMUST00000160452
SMART Domains Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658

DomainStartEndE-ValueType
Pfam:RIC1 8 163 1.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161330
SMART Domains Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161536
Predicted Effect unknown
Transcript: ENSMUST00000162492
AA Change: S652P
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: S652P

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 0.5735 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik A T 7: 42,097,483 (GRCm39) C4S probably damaging Het
Abhd5 A T 9: 122,206,998 (GRCm39) T95S probably benign Het
Ambra1 A T 2: 91,706,099 (GRCm39) N795Y probably damaging Het
Brca2 A G 5: 150,464,102 (GRCm39) N1289D possibly damaging Het
Cavin2 T C 1: 51,340,097 (GRCm39) L258P probably damaging Het
Ccdc110 A G 8: 46,394,807 (GRCm39) T233A possibly damaging Het
Ccdc14 T A 16: 34,526,932 (GRCm39) I279N probably damaging Het
Cntn5 A T 9: 10,144,162 (GRCm39) L169Q probably benign Het
Dbf4 T C 5: 8,458,545 (GRCm39) S157G possibly damaging Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Eepd1 T A 9: 25,394,280 (GRCm39) D181E probably benign Het
Etfa T C 9: 55,372,103 (GRCm39) H286R probably damaging Het
Gm44419 T A 6: 65,127,940 (GRCm39) noncoding transcript Het
Gpatch4 C T 3: 87,962,047 (GRCm39) R155* probably null Het
Grik1 T G 16: 87,693,760 (GRCm39) R862S probably benign Het
Hectd1 A C 12: 51,792,875 (GRCm39) probably null Het
Ift122 T C 6: 115,892,972 (GRCm39) W919R probably damaging Het
Iqgap2 A T 13: 95,858,194 (GRCm39) probably null Het
Kcnq4 A T 4: 120,573,066 (GRCm39) I245N probably damaging Het
Map3k3 G T 11: 105,987,874 (GRCm39) R21L probably benign Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Msr1 A T 8: 40,084,360 (GRCm39) V65E probably damaging Het
Myom2 A T 8: 15,113,903 (GRCm39) D17V probably damaging Het
Naaladl1 T A 19: 6,159,785 (GRCm39) probably null Het
Naip6 T C 13: 100,444,741 (GRCm39) Y239C possibly damaging Het
Nckap1 C A 2: 80,360,551 (GRCm39) D533Y probably damaging Het
Ndufs2 T C 1: 171,064,185 (GRCm39) E375G probably damaging Het
Nsd1 T C 13: 55,439,097 (GRCm39) V1605A probably damaging Het
Or4k42 A G 2: 111,320,464 (GRCm39) I13T probably benign Het
Or52ae9 C A 7: 103,389,994 (GRCm39) R151L probably damaging Het
Or5ac17 T A 16: 59,036,916 (GRCm39) H20L probably benign Het
Or5b114-ps1 A T 19: 13,352,647 (GRCm39) Y107F probably benign Het
Or7e176 T A 9: 20,171,754 (GRCm39) M206K probably benign Het
Pcp2 G A 8: 3,673,543 (GRCm39) probably null Het
Pdgfra A G 5: 75,334,057 (GRCm39) S377G probably damaging Het
Reep5 A T 18: 34,505,511 (GRCm39) Y53* probably null Het
Satb1 T C 17: 52,082,404 (GRCm39) T417A possibly damaging Het
Slc1a7 T A 4: 107,859,379 (GRCm39) M156K possibly damaging Het
Slc4a10 A G 2: 62,041,789 (GRCm39) E123G probably damaging Het
Slc66a1 A G 4: 139,027,556 (GRCm39) V262A probably benign Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Stard13 A T 5: 150,965,707 (GRCm39) V916E probably damaging Het
Tlr1 T C 5: 65,082,556 (GRCm39) R674G possibly damaging Het
Tnfsf11 A G 14: 78,545,299 (GRCm39) Y11H probably damaging Het
Tnr T A 1: 159,714,692 (GRCm39) V857E probably benign Het
Tubgcp5 A G 7: 55,456,526 (GRCm39) I373V probably benign Het
Ush2a A T 1: 188,090,160 (GRCm39) R414S possibly damaging Het
Vmn2r100 T C 17: 19,742,576 (GRCm39) S317P probably benign Het
Wdr49 A T 3: 75,230,989 (GRCm39) F558I probably benign Het
Zfyve16 A G 13: 92,648,105 (GRCm39) I983T probably benign 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
R1493:Ric1 UTSW 19 29,557,249 (GRCm39) missense probably benign
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
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'- AAACTTCAGCAATTCTTGTGTCTCC -3'
(R):5'- GAGGTAGATCTGAGAGGTCCTC -3'

Sequencing Primer
(F):5'- AGCAATTCTTGTGTCTCCTTCAG -3'
(R):5'- GGTCCTCTCCACAACACAGAAGG -3'
Posted On 2017-10-10