Incidental Mutation 'R5965:Ric1'
ID 472065
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 044150-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R5965 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29548171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 280 (D280N)
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: D280N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: D280N

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: D208N
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: D208N

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 0.4367 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 98% (80/82)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,410,637 (GRCm39) T23S probably benign Het
Armc2 A G 10: 41,798,568 (GRCm39) I747T possibly damaging Het
Cacna1c T A 6: 118,579,261 (GRCm39) H1729L probably damaging Het
Crebbp A G 16: 3,905,525 (GRCm39) probably benign Het
Cyp4f17 T A 17: 32,743,611 (GRCm39) M326K probably damaging Het
Dchs1 T G 7: 105,405,132 (GRCm39) D2470A probably damaging Het
Ddhd2 T C 8: 26,225,804 (GRCm39) T518A probably damaging Het
Derl2 T C 11: 70,905,378 (GRCm39) T109A probably benign Het
Dnah7b T C 1: 46,402,147 (GRCm39) L3994P probably damaging Het
Dock10 T C 1: 80,546,461 (GRCm39) probably null Het
Dync1h1 T A 12: 110,599,212 (GRCm39) S1856T probably benign Het
Ehd2 T C 7: 15,685,999 (GRCm39) K358E possibly damaging Het
Enpp2 A G 15: 54,746,367 (GRCm39) probably null Het
Esco1 T C 18: 10,593,867 (GRCm39) E473G possibly damaging Het
Exoc5 A G 14: 49,272,388 (GRCm39) F342S probably damaging Het
Fam186a T A 15: 99,842,978 (GRCm39) T1089S probably benign Het
Fanca T C 8: 124,043,149 (GRCm39) D79G possibly damaging Het
Gabrb2 A G 11: 42,517,696 (GRCm39) Y506C probably damaging Het
Galntl6 T C 8: 58,310,565 (GRCm39) T379A probably benign Het
Garin2 T A 12: 78,757,080 (GRCm39) N12K unknown Het
Gm34768 A G 2: 11,913,316 (GRCm39) noncoding transcript Het
Gps2 A G 11: 69,805,620 (GRCm39) E46G possibly damaging Het
Gsdmc T C 15: 63,676,447 (GRCm39) probably null Het
Gys1 C T 7: 45,104,763 (GRCm39) T666I probably benign Het
Hsd17b11 T A 5: 104,169,651 (GRCm39) probably benign Het
Iffo1 T A 6: 125,129,471 (GRCm39) probably benign Het
Ighv1-51 T C 12: 115,095,177 (GRCm39) noncoding transcript Het
Kansl3 T A 1: 36,384,601 (GRCm39) probably null Het
Kdm3a A G 6: 71,598,364 (GRCm39) I174T probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Lair1 T C 7: 4,032,023 (GRCm39) D28G possibly damaging Het
Lama3 A G 18: 12,562,944 (GRCm39) D489G possibly damaging Het
Lamb3 A T 1: 193,025,768 (GRCm39) I1153F probably damaging Het
Lsp1 T A 7: 142,044,161 (GRCm39) probably null Het
Man1a A G 10: 53,809,586 (GRCm39) probably benign Het
Mcam A C 9: 44,047,925 (GRCm39) S57R probably damaging Het
Mrgprf C A 7: 144,861,168 (GRCm39) probably benign Het
Nfia T C 4: 97,999,529 (GRCm39) *499Q probably null Het
Nmbr C A 10: 14,642,554 (GRCm39) R38S probably benign Het
Or12e7 T G 2: 87,288,381 (GRCm39) F291V probably benign Het
Or51a25 C A 7: 102,373,467 (GRCm39) V77L probably benign Het
Or5h23 T C 16: 58,906,666 (GRCm39) Y60C probably damaging Het
P3h1 C T 4: 119,105,424 (GRCm39) H741Y probably benign Het
Parp4 A T 14: 56,861,489 (GRCm39) M941L probably benign Het
Phaf1 T C 8: 105,961,171 (GRCm39) F69L probably damaging Het
Pik3c3 C T 18: 30,431,633 (GRCm39) T331M probably damaging Het
Prkg1 T C 19: 30,701,556 (GRCm39) probably null Het
Qsox2 A T 2: 26,112,233 (GRCm39) V103D probably benign Het
Ranbp1 T C 16: 18,063,092 (GRCm39) T95A probably damaging Het
Scd1 A G 19: 44,388,579 (GRCm39) probably null Het
Serpinb3c A G 1: 107,204,653 (GRCm39) I31T probably benign Het
Slc7a11 T A 3: 50,333,593 (GRCm39) Y386F probably benign Het
Smtnl2 A T 11: 72,291,279 (GRCm39) probably null Het
Snx2 G T 18: 53,327,534 (GRCm39) E87* probably null Het
Tars2 A C 3: 95,655,464 (GRCm39) probably null Het
Tax1bp1 C A 6: 52,706,317 (GRCm39) T106N probably damaging Het
Tcof1 A G 18: 60,966,490 (GRCm39) probably null Het
Tenm3 C A 8: 48,681,543 (GRCm39) E2680* probably null Het
Thap7 C T 16: 17,348,611 (GRCm39) probably benign Het
Thoc6 T A 17: 23,889,842 (GRCm39) I23F possibly damaging Het
Tmem185b T G 1: 119,454,294 (GRCm39) Y18* probably null Het
Trav6-1 A C 14: 52,876,254 (GRCm39) Y58S probably damaging Het
Trbv16 A T 6: 41,128,989 (GRCm39) I58F probably benign Het
Ubtfl1 T A 9: 18,320,838 (GRCm39) M122K probably benign Het
Vps13a T C 19: 16,596,392 (GRCm39) probably null Het
Zdhhc24 T G 19: 4,933,778 (GRCm39) D278E probably benign Het
Zfp316 T C 5: 143,250,427 (GRCm39) probably null Het
Zfyve9 T C 4: 108,548,878 (GRCm39) T769A possibly damaging Het
Znhit6 T A 3: 145,284,103 (GRCm39) N96K possibly 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
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'- TGTCTCCTAAAGCAAGCAGAAG -3'
(R):5'- CACTGCCACAAGCCTTTATG -3'

Sequencing Primer
(F):5'- CCCAGGTTGATGCATATCGCTAAAG -3'
(R):5'- CTGCCACAAGCCTTTATGTGTAAGG -3'
Posted On 2017-03-31