Incidental Mutation 'R6547:Ric1'
ID 521331
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 044672-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R6547 (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 29572226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 674 (N674D)
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: N674D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: N674D

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: N565D
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: N565D

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 0.4641 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,490,251 (GRCm39) probably benign Het
Abca13 T A 11: 9,224,757 (GRCm39) V490E probably benign Het
Abca2 G T 2: 25,323,350 (GRCm39) G106V possibly damaging Het
Ablim3 T C 18: 61,957,000 (GRCm39) T276A probably benign Het
Anxa7 A G 14: 20,519,461 (GRCm39) V119A probably benign Het
Arl9 A G 5: 77,158,257 (GRCm39) probably null Het
Atm T C 9: 53,351,457 (GRCm39) Y2964C probably damaging Het
Bbs9 T C 9: 22,425,365 (GRCm39) Y140H probably benign Het
Calcr A T 6: 3,717,177 (GRCm39) D94E probably damaging Het
Celsr3 T A 9: 108,706,327 (GRCm39) Y937N probably damaging Het
Cemip2 A T 19: 21,822,195 (GRCm39) T1197S probably benign Het
Clca3a1 C T 3: 144,442,708 (GRCm39) A779T probably damaging Het
Clec9a T A 6: 129,393,339 (GRCm39) V94D probably benign Het
Colec12 G T 18: 9,840,351 (GRCm39) L57F probably damaging Het
Fa2h T C 8: 112,074,652 (GRCm39) Y317C probably damaging Het
Flnc A G 6: 29,448,607 (GRCm39) T1282A probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Hcn2 G T 10: 79,552,986 (GRCm39) V162L probably benign Het
Hycc1 T C 5: 24,170,098 (GRCm39) N417S probably benign Het
Kbtbd11 T A 8: 15,077,641 (GRCm39) V80E possibly damaging Het
Lama4 A G 10: 38,949,652 (GRCm39) D915G probably damaging Het
Limch1 A T 5: 67,186,117 (GRCm39) E806V probably damaging Het
Mppe1 T C 18: 67,362,059 (GRCm39) I169V probably benign Het
Msc A C 1: 14,825,969 (GRCm39) S2A possibly damaging Het
Nploc4 A G 11: 120,319,348 (GRCm39) probably null Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nrap G T 19: 56,339,998 (GRCm39) H840N probably benign Het
Or8a1 T A 9: 37,641,791 (GRCm39) M163L probably benign Het
Pate13 T A 9: 35,819,781 (GRCm39) M15K probably null Het
Pdlim1 G A 19: 40,211,564 (GRCm39) T243I probably damaging Het
Pfkl T A 10: 77,831,188 (GRCm39) M318L probably benign Het
Rap1gds1 C A 3: 138,661,099 (GRCm39) R426L probably damaging Het
Rp1 G A 1: 4,240,528 (GRCm39) T875I unknown Het
Rtn1 G T 12: 72,355,535 (GRCm39) S137Y possibly damaging Het
Scn2a A G 2: 65,546,241 (GRCm39) I935V probably benign Het
Serpina1a C T 12: 103,822,180 (GRCm39) V251M probably damaging Het
Slc19a3 A G 1: 83,000,621 (GRCm39) V132A probably damaging Het
Slc26a6 T A 9: 108,737,981 (GRCm39) probably null Het
Slc2a5 T A 4: 150,220,076 (GRCm39) V164D possibly damaging Het
Slc4a1 T A 11: 102,247,561 (GRCm39) T441S probably damaging Het
Stk33 T C 7: 108,920,042 (GRCm39) I366V possibly damaging Het
Syt14 G T 1: 192,584,177 (GRCm39) H696N possibly damaging Het
Tcaim T A 9: 122,643,531 (GRCm39) V77D probably benign Het
Tefm T G 11: 80,031,210 (GRCm39) probably null Het
Tekt3 T A 11: 62,961,304 (GRCm39) S158T possibly damaging Het
Tspan11 T A 6: 127,926,766 (GRCm39) M238K possibly damaging Het
Unc5c A T 3: 141,495,780 (GRCm39) T476S probably benign Het
Usp9y A T Y: 1,444,612 (GRCm39) L109Q probably damaging Homo
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps13c C A 9: 67,880,647 (GRCm39) Q3495K probably damaging Het
Zbtb10 G A 3: 9,316,763 (GRCm39) A192T probably benign Het
Zfp316 A T 5: 143,239,952 (GRCm39) V689D probably damaging Het
Zswim1 A G 2: 164,666,716 (GRCm39) probably benign Het
Zswim5 T C 4: 116,844,100 (GRCm39) L1046P 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
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
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'- CTTTGTCTATCTTGTCCAGGAAAC -3'
(R):5'- ATGTTCTTGGTGCCTAAGTCAC -3'

Sequencing Primer
(F):5'- GAAACTTGTTTTCCCACAGAGCCTAG -3'
(R):5'- GTTCTTGGTGCCTAAGTCACAACAC -3'
Posted On 2018-06-06