Incidental Mutation 'R6345:Ric1'
ID 514137
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 044499-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R6345 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29581485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1402 (D1402G)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610] [ENSMUST00000159692]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043610
AA Change: D1402G

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: D1402G

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: ENSMUST00000159692
SMART Domains Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324

DomainStartEndE-ValueType
low complexity region 9 26 N/A INTRINSIC
low complexity region 65 94 N/A INTRINSIC
Pfam:Peptidase_M28 179 373 1.3e-49 PFAM
Pfam:Peptidase_M20 184 375 2.9e-8 PFAM
transmembrane domain 405 427 N/A INTRINSIC
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 481 503 N/A INTRINSIC
transmembrane domain 516 538 N/A INTRINSIC
transmembrane domain 543 562 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 617 639 N/A INTRINSIC
transmembrane domain 646 668 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 unknown
Transcript: ENSMUST00000161330
AA Change: D423G
SMART Domains Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
AA Change: D423G

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 noncoding transcript
Transcript: ENSMUST00000161749
Predicted Effect unknown
Transcript: ENSMUST00000162492
AA Change: D1293G
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: D1293G

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: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,913 (GRCm39) I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 (GRCm39) M137K possibly damaging Het
Angpt4 C A 2: 151,771,354 (GRCm39) N223K probably benign Het
Ankrd6 T C 4: 32,810,266 (GRCm39) R437G probably damaging Het
Atp9a C T 2: 168,518,093 (GRCm39) S264N probably damaging Het
AY358078 A C 14: 52,063,749 (GRCm39) Y465S probably damaging Het
Bin3 G A 14: 70,374,676 (GRCm39) R235Q probably benign Het
Bsn G A 9: 107,984,554 (GRCm39) P3167S unknown Het
Camk2g G A 14: 20,787,443 (GRCm39) R274C probably damaging Het
Ccdc61 A T 7: 18,643,914 (GRCm39) probably null Het
Ccnjl A T 11: 43,476,165 (GRCm39) T263S probably benign Het
Col17a1 G T 19: 47,641,818 (GRCm39) P944T possibly damaging Het
Cyp2c39 A T 19: 39,501,615 (GRCm39) probably null Het
Cyp2c39 G T 19: 39,501,616 (GRCm39) probably null Het
Cyp4a32 T C 4: 115,459,560 (GRCm39) V98A possibly damaging Het
Dnah9 A G 11: 65,928,519 (GRCm39) V2050A probably damaging Het
F5 A G 1: 164,019,520 (GRCm39) N665S probably benign Het
Fbxl6 A T 15: 76,420,054 (GRCm39) C520S probably damaging Het
Fscn2 C A 11: 120,252,853 (GRCm39) H107N probably damaging Het
Gfm2 C T 13: 97,299,461 (GRCm39) T367M probably damaging Het
Gle1 C G 2: 29,826,127 (GRCm39) P69A probably benign Het
Gpr156 A T 16: 37,807,881 (GRCm39) D176V probably damaging Het
Grip2 A G 6: 91,742,369 (GRCm39) S895P possibly damaging Het
Hfm1 C T 5: 106,989,504 (GRCm39) G1404D probably benign Het
Ifit1bl1 G A 19: 34,571,570 (GRCm39) R296* probably null Het
Ighv1-39 C T 12: 114,878,479 (GRCm39) V31M possibly damaging Het
Itgav A G 2: 83,632,380 (GRCm39) E956G probably damaging Het
Katnip C A 7: 125,352,159 (GRCm39) D26E probably damaging Het
Lsm8 A G 6: 18,853,644 (GRCm39) D86G probably damaging Het
Mdh1b T G 1: 63,754,398 (GRCm39) H390P possibly damaging Het
Mtrf1l A T 10: 5,767,468 (GRCm39) I216N possibly damaging Het
Muc16 G A 9: 18,566,222 (GRCm39) T2099I unknown Het
Myh7 T C 14: 55,221,149 (GRCm39) R925G probably damaging Het
Myo1h T A 5: 114,489,769 (GRCm39) I658N probably damaging Het
Myo5a A T 9: 75,097,195 (GRCm39) D81V possibly damaging Het
Nell1 G A 7: 49,625,171 (GRCm39) C12Y possibly damaging Het
Obscn T C 11: 58,944,522 (GRCm39) Y4724C probably damaging Het
Or8k53 A G 2: 86,177,892 (GRCm39) Y73H probably damaging Het
Pah G A 10: 87,412,049 (GRCm39) D315N probably damaging Het
Per2 A G 1: 91,376,444 (GRCm39) V143A probably damaging Het
Plcxd1 T C 5: 110,248,165 (GRCm39) V38A probably benign Het
Pld1 A G 3: 28,184,896 (GRCm39) probably benign Het
Plekhh2 A G 17: 84,883,215 (GRCm39) N761S probably benign Het
Polh T C 17: 46,493,664 (GRCm39) I318V probably benign Het
Prex1 T C 2: 166,414,880 (GRCm39) Q1323R probably null Het
Rb1cc1 T A 1: 6,333,481 (GRCm39) S1440T probably benign Het
Rbm19 G T 5: 120,265,105 (GRCm39) W382L possibly damaging Het
Rchy1 T C 5: 92,105,801 (GRCm39) D49G probably benign Het
S1pr3 G T 13: 51,573,067 (GRCm39) A83S probably damaging Het
S1pr3 C A 13: 51,573,068 (GRCm39) A83D probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpinb9c T C 13: 33,333,978 (GRCm39) R355G probably damaging Het
Slx4 G C 16: 3,808,714 (GRCm39) Q409E probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Specc1l G T 10: 75,084,322 (GRCm39) D682Y probably damaging Het
Spen C T 4: 141,198,944 (GRCm39) V3228I possibly damaging Het
Strip1 T C 3: 107,535,516 (GRCm39) E69G probably damaging Het
Tasp1 C A 2: 139,793,457 (GRCm39) V240L probably damaging Het
Tdrd9 T A 12: 112,001,042 (GRCm39) F787L probably damaging Het
Vmn1r228 A G 17: 20,997,144 (GRCm39) S125P probably damaging Het
Wdhd1 A G 14: 47,489,379 (GRCm39) M718T 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
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
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'- TTTACTCAGCCCTGGATATAAGC -3'
(R):5'- GAGTTCTGACCCAAGTTCTTTTACC -3'

Sequencing Primer
(F):5'- ACAACTGCAGAAGCTCAGTG -3'
(R):5'- ACCTGTTAAGTCATTCGGCAG -3'
Posted On 2018-04-27