Incidental Mutation 'R6236:Ric1'
ID 504974
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 044400-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R6236 (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 A at 29572826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 755 (D755E)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043610
AA Change: D755E

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: D755E

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: D646E
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: D646E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,989,664 (GRCm39) T703A possibly damaging Het
Acd C T 8: 106,427,127 (GRCm39) A49T probably benign Het
Acer1 T A 17: 57,262,231 (GRCm39) I224F probably benign Het
Acvr1 T C 2: 58,367,678 (GRCm39) D161G probably benign Het
Catsper4 T C 4: 133,948,887 (GRCm39) I111V probably benign Het
Cfap210 A C 2: 69,588,385 (GRCm39) probably null Het
Chst14 T A 2: 118,757,997 (GRCm39) C264S probably damaging Het
Clnk T C 5: 38,870,542 (GRCm39) T339A probably benign Het
Cnot4 T C 6: 35,045,608 (GRCm39) K201R probably benign Het
Col19a1 A G 1: 24,319,030 (GRCm39) V1020A probably damaging Het
Cts6 C A 13: 61,344,192 (GRCm39) E287* probably null Het
Dbf4 T C 5: 8,448,579 (GRCm39) probably benign Het
Diaph3 G A 14: 87,275,004 (GRCm39) R140* probably null Het
Faah T C 4: 115,856,786 (GRCm39) I459V probably benign Het
Fbxw2 A T 2: 34,712,845 (GRCm39) L72H probably damaging Het
Fstl4 G A 11: 53,077,162 (GRCm39) G640S probably benign Het
Gabrb1 C T 5: 72,265,663 (GRCm39) T186M probably damaging Het
Gata2 T C 6: 88,179,548 (GRCm39) probably null Het
Ifi203 A G 1: 173,761,479 (GRCm39) V190A probably benign Het
Kdm3a T C 6: 71,588,641 (GRCm39) E456G probably benign Het
Kl A T 5: 150,876,755 (GRCm39) T192S probably damaging Het
Klhl3 G A 13: 58,232,876 (GRCm39) A77V probably damaging Het
Klri2 A G 6: 129,715,858 (GRCm39) F114L probably benign Het
Lonp2 A T 8: 87,363,215 (GRCm39) R278* probably null Het
Lrp5 A T 19: 3,680,483 (GRCm39) probably null Het
Med13 T A 11: 86,219,357 (GRCm39) H363L probably damaging Het
Metap1d T G 2: 71,346,022 (GRCm39) F194L probably benign Het
Misp A G 10: 79,662,956 (GRCm39) K458E probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myh2 A G 11: 67,081,157 (GRCm39) T1258A probably benign Het
Nipbl T A 15: 8,354,064 (GRCm39) D1691V possibly damaging Het
Nr1i2 C T 16: 38,086,300 (GRCm39) C55Y probably damaging Het
Or11h7 T C 14: 50,891,257 (GRCm39) S188P probably damaging Het
Or7g21 A T 9: 19,032,409 (GRCm39) I50F possibly damaging Het
Pcdhgb4 T C 18: 37,854,345 (GRCm39) Y247H probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Sez6l G T 5: 112,623,110 (GRCm39) T147K possibly damaging Het
Ski A G 4: 155,244,001 (GRCm39) F451S probably benign Het
Slc45a2 C T 15: 11,022,158 (GRCm39) T300I probably benign Het
Smarca2 T C 19: 26,673,613 (GRCm39) V1050A probably benign Het
Spag1 T C 15: 36,211,281 (GRCm39) S476P probably damaging Het
Sptbn2 T A 19: 4,798,166 (GRCm39) S1964T probably benign Het
Sucla2 T A 14: 73,831,190 (GRCm39) D434E probably benign Het
Tbl3 G A 17: 24,919,717 (GRCm39) T779I probably benign Het
Tlr2 T A 3: 83,745,438 (GRCm39) E215V probably benign Het
Tomm40 G A 7: 19,437,281 (GRCm39) P227S probably benign Het
Tpp2 T A 1: 44,016,477 (GRCm39) S711T probably benign Het
Traj32 T A 14: 54,423,565 (GRCm39) Y2* probably null Het
Trim34b A G 7: 103,985,525 (GRCm39) R387G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp5 T C 6: 124,795,441 (GRCm39) T651A probably benign Het
Vmn1r188 T C 13: 22,272,414 (GRCm39) S123P probably damaging Het
Zdhhc14 T C 17: 5,543,918 (GRCm39) L66P probably damaging Het
Zfp712 C T 13: 67,188,685 (GRCm39) C614Y probably damaging Het
Zfp827 A G 8: 79,797,105 (GRCm39) K397R 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
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
R6141:Ric1 UTSW 19 29,572,842 (GRCm39) missense probably damaging 1.00
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'- AGGGAAAGAGCACCTCCAGC -3'
Posted On 2018-02-28