Incidental Mutation 'IGL01688:Ric1'
ID 104024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # IGL01688
Quality Score
Status
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29555014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 376 (V376A)
Ref Sequence ENSEMBL: ENSMUSP00000043437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043610]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043610
AA Change: V376A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: V376A

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: V304A
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: V304A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,985 (GRCm39) L59P probably damaging Het
Ccin A T 4: 43,984,985 (GRCm39) E464V possibly damaging Het
Cfap58 A G 19: 47,963,006 (GRCm39) D472G probably benign Het
Col28a1 C T 6: 7,998,517 (GRCm39) E1131K probably damaging Het
Cpne2 A G 8: 95,281,381 (GRCm39) T196A possibly damaging Het
Cul4a A T 8: 13,196,571 (GRCm39) R742* probably null Het
Cyp21a1 T A 17: 35,021,194 (GRCm39) I370F probably damaging Het
Ddx51 T C 5: 110,803,513 (GRCm39) F332L probably benign Het
Gm8232 A G 14: 44,671,179 (GRCm39) D29G unknown Het
Got1 A G 19: 43,512,775 (GRCm39) probably null Het
Gpat4 A G 8: 23,671,861 (GRCm39) I58T probably benign Het
Hdac3 T A 18: 38,087,932 (GRCm39) D12V possibly damaging Het
Helb T C 10: 119,944,885 (GRCm39) H217R probably damaging Het
Hpf1 A T 8: 61,349,830 (GRCm39) I153L probably benign Het
Lgsn G A 1: 31,243,486 (GRCm39) D523N probably damaging Het
Lrrc63 A G 14: 75,322,422 (GRCm39) S561P possibly damaging Het
Myh6 G A 14: 55,201,417 (GRCm39) T94I possibly damaging Het
Mzt2 T C 16: 15,680,793 (GRCm39) probably benign Het
Ndufb5 T A 3: 32,800,613 (GRCm39) L62* probably null Het
Nek1 A T 8: 61,558,631 (GRCm39) R970* probably null Het
Nepro T C 16: 44,556,369 (GRCm39) L509P probably damaging Het
Pank1 T A 19: 34,818,252 (GRCm39) I96F probably damaging Het
Parp11 C A 6: 127,448,569 (GRCm39) T62K probably benign Het
Pla2g2e T A 4: 138,606,781 (GRCm39) probably benign Het
Plekha5 T A 6: 140,515,115 (GRCm39) Y207N probably damaging Het
Pomt2 T A 12: 87,194,294 (GRCm39) I37F probably benign Het
Prl6a1 T A 13: 27,501,969 (GRCm39) V117E probably damaging Het
Prmt3 T A 7: 49,498,480 (GRCm39) probably null Het
Rcor3 T A 1: 191,807,900 (GRCm39) E20V probably damaging Het
Rere A G 4: 150,702,893 (GRCm39) D1449G probably damaging Het
Rims1 G A 1: 22,467,764 (GRCm39) T873I probably benign Het
Rras2 T C 7: 113,659,632 (GRCm39) D44G probably damaging Het
Sbk2 C T 7: 4,960,716 (GRCm39) probably benign Het
Slit1 A G 19: 41,717,545 (GRCm39) I73T probably damaging Het
Spice1 T A 16: 44,205,073 (GRCm39) M793K probably benign Het
Suco T C 1: 161,691,480 (GRCm39) probably null Het
Tarbp1 A T 8: 127,174,290 (GRCm39) W839R probably damaging Het
Trpc4 T A 3: 54,173,495 (GRCm39) probably benign Het
Tubgcp5 T C 7: 55,464,766 (GRCm39) V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 (GRCm39) T182S probably benign Het
Wrn A C 8: 33,800,730 (GRCm39) probably benign Het
Zc3h15 A G 2: 83,492,536 (GRCm39) Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 (GRCm39) I1730F possibly damaging Het
Zfp609 A G 9: 65,611,307 (GRCm39) V552A probably benign 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
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
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
Posted On 2014-01-21