Incidental Mutation 'R4835:Ric1'
ID 373203
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 042450-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R4835 (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 29572936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 792 (N792S)
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: N792S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: N792S

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 unknown
Transcript: ENSMUST00000160452
AA Change: N3S
SMART Domains Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
AA Change: N3S

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: N683S
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: N683S

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 0.3407 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Abcg5 A T 17: 84,966,076 (GRCm39) M428K possibly damaging Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncapd3 T C 9: 26,997,342 (GRCm39) L1221P probably damaging Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Scaf4 A G 16: 90,047,195 (GRCm39) M394T unknown Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vps16 T G 2: 130,280,220 (GRCm39) probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zfyve9 A C 4: 108,575,195 (GRCm39) S629A possibly damaging Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K 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
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'- AAAGCGTCACCTTCTGGAG -3'
(R):5'- ATCAGCTCCAACACGTGAGG -3'

Sequencing Primer
(F):5'- TTCTGGAGGCCCTCTGG -3'
(R):5'- TAACGCAGCGCAGGACTG -3'
Posted On 2016-03-01