Incidental Mutation 'R4516:Ric1'
ID 332936
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 041760-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R4516 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29548165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 278 (T278A)
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: T278A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: T278A

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: T206A
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: T206A

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 0.1162 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bean1 T C 8: 104,941,786 (GRCm39) S211P probably damaging Het
Bltp1 T C 3: 36,949,460 (GRCm39) S369P possibly damaging Het
Camta1 A G 4: 151,229,177 (GRCm39) S552P possibly damaging Het
Cdh11 T C 8: 103,400,594 (GRCm39) T125A possibly damaging Het
Cdk5rap2 A T 4: 70,194,952 (GRCm39) probably null Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Cfap20dc A T 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap44 T A 16: 44,294,227 (GRCm39) Y224* probably null Het
Cfap46 G A 7: 139,239,998 (GRCm39) probably benign Het
Cntrl G A 2: 35,017,993 (GRCm39) V468I probably benign Het
Col6a6 C T 9: 105,576,148 (GRCm39) V2071I possibly damaging Het
Coq7 A T 7: 118,109,130 (GRCm39) L306Q unknown Het
D7Ertd443e C G 7: 133,895,057 (GRCm39) Q591H probably damaging Het
Dchs1 C T 7: 105,404,059 (GRCm39) V2828M probably damaging Het
Dzank1 T A 2: 144,352,042 (GRCm39) probably benign Het
Elmo1 C T 13: 20,467,084 (GRCm39) T235I probably benign Het
Elp3 A T 14: 65,785,326 (GRCm39) F492I possibly damaging Het
Espl1 A G 15: 102,231,671 (GRCm39) S90G probably benign Het
Fbxl20 T C 11: 97,986,061 (GRCm39) probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Got1 T C 19: 43,493,280 (GRCm39) Y243C probably damaging Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Kif21a A T 15: 90,855,345 (GRCm39) M673K probably benign Het
Lama3 T A 18: 12,628,415 (GRCm39) D1502E probably damaging Het
Limk1 A G 5: 134,705,640 (GRCm39) probably benign Het
Myo5b A G 18: 74,758,745 (GRCm39) Y242C probably damaging Het
Naa12 G A 18: 80,254,791 (GRCm39) M28I probably benign Het
Ncbp1 T C 4: 46,157,824 (GRCm39) V354A probably damaging Het
Ncoa2 T C 1: 13,217,130 (GRCm39) D1380G probably damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Oas1d A T 5: 121,057,233 (GRCm39) T280S probably damaging Het
Or1e29 C T 11: 73,667,866 (GRCm39) G96S probably benign Het
Or4c15b T A 2: 89,113,187 (GRCm39) M118L probably benign Het
Pax7 T G 4: 139,508,104 (GRCm39) D307A probably benign Het
Pdxdc1 G A 16: 13,656,210 (GRCm39) Q621* probably null Het
Rab29 A T 1: 131,795,469 (GRCm39) Y27F possibly damaging Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc47a1 T C 11: 61,235,339 (GRCm39) H498R probably benign Het
Spmip6 T C 4: 41,517,200 (GRCm39) probably benign Het
Tas2r116 T C 6: 132,833,113 (GRCm39) L238P probably damaging Het
Tigd5 A T 15: 75,782,364 (GRCm39) R252* probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Tmem106b C T 6: 13,075,098 (GRCm39) T95I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r174 A G 7: 23,453,768 (GRCm39) I145V probably benign Het
Vps26a T C 10: 62,304,124 (GRCm39) M116V 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
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'- AGGGTGCCTATGTGTGGAAC -3'
(R):5'- TGCCACAAGCCTTTATGTGTAAG -3'

Sequencing Primer
(F):5'- CCCAGGTTGATGCATATCGCTAAAG -3'
(R):5'- CACAAGCCTTTATGTGTAAGGATCAG -3'
Posted On 2015-08-18