Incidental Mutation 'R0734:Ric1'
ID 68192
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 038915-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R0734 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29572218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 671 (I671K)
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: I671K

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: I671K

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: I562K
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: I562K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,668,198 (GRCm39) S530T probably benign Het
Acer2 G T 4: 86,835,796 (GRCm39) K223N probably benign Het
Adam19 T G 11: 46,018,230 (GRCm39) C431G probably damaging Het
Adamts16 T G 13: 70,886,600 (GRCm39) probably benign Het
Aox1 A T 1: 58,344,500 (GRCm39) E531V probably benign Het
Apaf1 A T 10: 90,872,883 (GRCm39) N720K probably benign Het
Atrnl1 T A 19: 57,643,293 (GRCm39) W394R probably damaging Het
Bcl6 T C 16: 23,786,889 (GRCm39) E634G probably damaging Het
Cfap65 T A 1: 74,958,046 (GRCm39) Y954F probably damaging Het
Cobl A G 11: 12,325,971 (GRCm39) V168A probably damaging Het
Cped1 C T 6: 22,085,040 (GRCm39) P210S probably damaging Het
Crb1 C T 1: 139,264,822 (GRCm39) V199M probably benign Het
Cyp2j6 A T 4: 96,412,081 (GRCm39) probably benign Het
Dhrs3 C G 4: 144,653,746 (GRCm39) S289W probably damaging Het
Dido1 T G 2: 180,301,835 (GRCm39) Q2023P probably benign Het
Dlg4 G A 11: 69,933,531 (GRCm39) G550R probably damaging Het
Dnah12 C A 14: 26,521,970 (GRCm39) H1928N probably benign Het
Dthd1 A C 5: 62,996,753 (GRCm39) probably benign Het
Erg C A 16: 95,170,884 (GRCm39) G269C possibly damaging Het
Erich6 G A 3: 58,536,809 (GRCm39) probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fancc T C 13: 63,479,656 (GRCm39) R300G probably damaging Het
Fcer1g T A 1: 171,058,748 (GRCm39) K47* probably null Het
Flt4 A G 11: 49,517,544 (GRCm39) T289A possibly damaging Het
Gcnt2 T A 13: 41,013,997 (GRCm39) F56Y probably benign Het
Gpatch8 G T 11: 102,372,226 (GRCm39) S437R unknown Het
Grin2a T A 16: 9,397,475 (GRCm39) I871F possibly damaging Het
Hsd17b4 T C 18: 50,303,844 (GRCm39) V439A possibly damaging Het
Hykk A T 9: 54,853,716 (GRCm39) K346M possibly damaging Het
Ifi208 T C 1: 173,510,901 (GRCm39) L352S probably damaging Het
Ikzf1 T C 11: 11,708,195 (GRCm39) V110A probably damaging Het
Irak3 A T 10: 119,981,542 (GRCm39) probably benign Het
Lamp5 T A 2: 135,900,950 (GRCm39) V50E probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrch3 C T 16: 32,817,853 (GRCm39) R570* probably null Het
Map1lc3a T C 2: 155,118,896 (GRCm39) V20A possibly damaging Het
Map3k14 C A 11: 103,117,826 (GRCm39) K655N probably benign Het
Mark2 A G 19: 7,263,346 (GRCm39) probably benign Het
Mbtd1 G A 11: 93,813,972 (GRCm39) G205D probably damaging Het
Med13 T C 11: 86,192,063 (GRCm39) T861A probably benign Het
Meltf T A 16: 31,700,776 (GRCm39) Y99N probably damaging Het
Mex3d G A 10: 80,217,366 (GRCm39) T617I possibly damaging Het
Muc13 G A 16: 33,623,452 (GRCm39) V249I probably damaging Het
Myo18a C A 11: 77,738,230 (GRCm39) P1688Q probably damaging Het
Naaladl1 A T 19: 6,162,904 (GRCm39) probably null Het
Ncoa3 T A 2: 165,911,111 (GRCm39) probably benign Het
Nf2 T C 11: 4,770,409 (GRCm39) T67A probably benign Het
Nin A G 12: 70,076,887 (GRCm39) V1056A probably benign Het
Or1p1 A T 11: 74,179,772 (GRCm39) Q100L probably damaging Het
Or4d10c T A 19: 12,065,483 (GRCm39) R224S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
P3h1 T C 4: 119,095,885 (GRCm39) L331P probably damaging Het
Pabpc4l T C 3: 46,401,408 (GRCm39) K79E possibly damaging Het
Pam T A 1: 97,792,087 (GRCm39) R445* probably null Het
Pcdhb6 T C 18: 37,468,387 (GRCm39) I436T probably damaging Het
Piezo2 A G 18: 63,174,794 (GRCm39) Y1987H probably damaging Het
Plch2 G A 4: 155,080,740 (GRCm39) T477I probably damaging Het
Postn G A 3: 54,270,136 (GRCm39) G72R probably damaging Het
Proca1 G A 11: 78,092,628 (GRCm39) probably benign Het
Psip1 T A 4: 83,381,825 (GRCm39) probably benign Het
Ptprd G A 4: 76,058,834 (GRCm39) P153L probably damaging Het
Rgl1 T C 1: 152,430,051 (GRCm39) D242G probably damaging Het
Rxrg T A 1: 167,455,013 (GRCm39) C199S probably damaging Het
Sec24c A C 14: 20,743,813 (GRCm39) D1006A probably damaging Het
Sec63 A G 10: 42,672,204 (GRCm39) T173A probably benign Het
Sfxn5 T C 6: 85,244,847 (GRCm39) probably benign Het
Spam1 A G 6: 24,796,948 (GRCm39) I300V probably benign Het
Spem1 A G 11: 69,712,097 (GRCm39) L189P probably damaging Het
Sptbn2 A T 19: 4,798,151 (GRCm39) R1959* probably null Het
Timeless C T 10: 128,085,929 (GRCm39) R935W probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim24 T C 6: 37,896,400 (GRCm39) Y286H possibly damaging Het
Ttyh2 A G 11: 114,601,019 (GRCm39) probably benign Het
Zbtb21 C T 16: 97,753,827 (GRCm39) C180Y probably damaging Het
Zfp746 T C 6: 48,041,833 (GRCm39) T298A 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
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
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'- ACTTGTTTTCCCACAGAGCCTAGC -3'
(R):5'- GGTAGTCCAGACATTTTCCACCGAC -3'

Sequencing Primer
(F):5'- CCTAGCAAAATGGCTGTGC -3'
(R):5'- GTTCTTGGTGCCTAAGTCACAAC -3'
Posted On 2013-09-03