Incidental Mutation 'R0362:Ric1'
ID 36305
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 038568-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R0362 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 29578411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610] [ENSMUST00000043610]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000043610
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658

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 null
Transcript: ENSMUST00000043610
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658

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 probably null
Transcript: ENSMUST00000162492
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658

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
Predicted Effect probably null
Transcript: ENSMUST00000162492
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658

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 0.9498 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Adamts6 A G 13: 104,526,584 (GRCm39) probably null Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ccdc180 A G 4: 45,923,551 (GRCm39) K1111E probably damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Ppp6r3 A G 19: 3,528,285 (GRCm39) L542S probably damaging Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slc34a1 T A 13: 55,550,711 (GRCm39) probably null Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Taf2 A T 15: 54,909,325 (GRCm39) V640E probably damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T 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
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
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'- AGCCGCCAATAAAGTGTGCTGTCG -3'
(R):5'- AGCCCAGGCAAAGCCAATTTGTCC -3'

Sequencing Primer
(F):5'- GCAGATGTTAAAGTCTCAGTCAGC -3'
(R):5'- GGCAAAGCCAATTTGTCCTTATTTTC -3'
Posted On 2013-05-09