Incidental Mutation 'R0336:Ric1'
ID 34156
Institutional Source Beutler Lab
Gene Symbol Ric1
Ensembl Gene ENSMUSG00000038658
Gene Name RAB6A GEF complex partner 1
Synonyms C030046E11Rik, C130057E09Rik
MMRRC Submission 038545-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R0336 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 29499637-29583909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29565193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 647 (T647S)
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: T647S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: T647S

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 unknown
Transcript: ENSMUST00000162492
AA Change: T538S
SMART Domains Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: T538S

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 0.1415 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,481 (GRCm39) I2743V probably benign Het
Adamts16 A G 13: 70,939,913 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,458,998 (GRCm39) I427V probably benign Het
Arhgef1 T A 7: 24,621,382 (GRCm39) F510I possibly damaging Het
B3glct A G 5: 149,670,057 (GRCm39) D342G probably damaging Het
Bcl2a1c G T 9: 114,159,353 (GRCm39) V44F probably damaging Het
Brca1 A G 11: 101,414,819 (GRCm39) V1105A probably benign Het
Ccn5 C A 2: 163,674,242 (GRCm39) A214D probably damaging Het
Cep135 A G 5: 76,749,349 (GRCm39) H272R probably benign Het
Coa8 T C 12: 111,700,092 (GRCm39) probably benign Het
Cog1 A C 11: 113,553,076 (GRCm39) H365P probably benign Het
Col12a1 A T 9: 79,609,627 (GRCm39) L293Q probably damaging Het
Col18a1 A G 10: 76,894,570 (GRCm39) L1493P probably damaging Het
Ctsh A G 9: 89,957,791 (GRCm39) Y290C probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb39 G T 8: 19,102,985 (GRCm39) H37N possibly damaging Het
Epha3 A G 16: 63,387,011 (GRCm39) I875T probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fndc1 C T 17: 7,983,939 (GRCm39) R1329Q unknown Het
Fyn C A 10: 39,402,897 (GRCm39) T223K possibly damaging Het
Galnt6 A T 15: 100,597,087 (GRCm39) S360T probably damaging Het
Grsf1 C A 5: 88,811,012 (GRCm39) V336F probably damaging Het
Hip1 A T 5: 135,457,467 (GRCm39) Y720N probably benign Het
Hivep3 G A 4: 119,961,044 (GRCm39) E1700K probably damaging Het
Ifna6 T C 4: 88,746,178 (GRCm39) S176P probably damaging Het
Lilrb4b T A 10: 51,357,389 (GRCm39) L75Q probably benign Het
Lrig3 C T 10: 125,802,574 (GRCm39) T77I probably benign Het
Mpped1 C T 15: 83,720,483 (GRCm39) P135L probably damaging Het
Mss51 T A 14: 20,533,254 (GRCm39) I406F possibly damaging Het
Mybpc2 T C 7: 44,155,040 (GRCm39) N956D probably damaging Het
Or4a27 T C 2: 88,559,498 (GRCm39) I148M possibly damaging Het
Podxl2 G A 6: 88,826,577 (GRCm39) T243I probably benign Het
Polr2a C T 11: 69,627,719 (GRCm39) R1396Q possibly damaging Het
Pramel51 T C 12: 88,144,961 (GRCm39) I122V probably benign Het
Pygm C T 19: 6,438,788 (GRCm39) R205W probably damaging Het
Rfx3 A G 19: 27,783,662 (GRCm39) M428T probably benign Het
Rictor G A 15: 6,806,234 (GRCm39) probably null Het
Rnf38 A T 4: 44,152,350 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,935,892 (GRCm39) I41K probably damaging Het
St8sia4 T A 1: 95,581,283 (GRCm39) D153V probably benign Het
Stk33 T C 7: 108,930,681 (GRCm39) N226S probably benign Het
Strn3 A G 12: 51,708,391 (GRCm39) probably null Het
Tlr6 G T 5: 65,111,289 (GRCm39) N539K probably benign Het
Tmem129 G T 5: 33,812,946 (GRCm39) P134Q probably damaging Het
Tmem94 A G 11: 115,678,211 (GRCm39) I145V probably benign Het
Trap1 A C 16: 3,862,490 (GRCm39) V596G probably damaging Het
Tspan2 A G 3: 102,642,343 (GRCm39) I11V probably null Het
Ttc23 A T 7: 67,312,231 (GRCm39) H46L probably benign Het
Txnip T A 3: 96,467,295 (GRCm39) D292E probably benign Het
Vmn1r121 T A 7: 20,832,387 (GRCm39) I18F possibly damaging Het
Vmn1r61 G A 7: 5,614,066 (GRCm39) H83Y probably benign Het
Vmn1r82 T C 7: 12,039,248 (GRCm39) S174P probably benign Het
Vmn2r79 A C 7: 86,651,287 (GRCm39) T229P probably benign Het
Vps13b T G 15: 35,455,279 (GRCm39) Y729* probably null Het
Xdh C T 17: 74,229,458 (GRCm39) V332M possibly damaging Het
Xkr5 C A 8: 18,990,652 (GRCm39) R205L possibly damaging Het
Zc3h4 T C 7: 16,169,103 (GRCm39) S1071P unknown Het
Zc3h6 A G 2: 128,857,332 (GRCm39) H617R possibly damaging Het
Zfp597 A G 16: 3,684,243 (GRCm39) V171A probably benign Het
Zfp709 T C 8: 72,644,449 (GRCm39) F626S probably damaging Het
Zfp944 C A 17: 22,558,009 (GRCm39) D413Y probably damaging Het
Zfp979 A C 4: 147,697,592 (GRCm39) S372R 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
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
Predicted Primers PCR Primer
(F):5'- TCAACCACACTGTTGCCCTGAC -3'
(R):5'- TGGCTTGCCACTAAAACTCAGCATC -3'

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