Incidental Mutation 'IGL02805:Ripor1'
ID 360377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor1
Ensembl Gene ENSMUSG00000038604
Gene Name RHO family interacting cell polarization regulator 1
Synonyms 2310066E14Rik, Fam65a
Accession Numbers
Essential gene? Possibly essential (E-score: 0.609) question?
Stock # IGL02805
Quality Score
Status
Chromosome 8
Chromosomal Location 106331887-106348851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106344203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 446 (T446A)
Ref Sequence ENSEMBL: ENSMUSP00000039966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043531] [ENSMUST00000194091]
AlphaFold Q68FE6
Predicted Effect probably damaging
Transcript: ENSMUST00000043531
AA Change: T446A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: T446A

DomainStartEndE-ValueType
Pfam:PL48 17 365 1.7e-170 PFAM
low complexity region 376 391 N/A INTRINSIC
low complexity region 399 413 N/A INTRINSIC
low complexity region 564 586 N/A INTRINSIC
low complexity region 595 655 N/A INTRINSIC
low complexity region 673 688 N/A INTRINSIC
low complexity region 748 771 N/A INTRINSIC
low complexity region 858 870 N/A INTRINSIC
Pfam:HEAT_2 1135 1209 3.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158807
Predicted Effect probably benign
Transcript: ENSMUST00000194091
SMART Domains Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705

DomainStartEndE-ValueType
Agouti 1 121 2.01e-56 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Ripor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ripor1 APN 8 106,348,065 (GRCm39) intron probably benign
IGL00658:Ripor1 APN 8 106,344,749 (GRCm39) intron probably benign
IGL01511:Ripor1 APN 8 106,346,562 (GRCm39) intron probably benign
IGL01733:Ripor1 APN 8 106,342,378 (GRCm39) missense possibly damaging 0.63
IGL03049:Ripor1 APN 8 106,342,079 (GRCm39) missense probably damaging 0.96
IGL03246:Ripor1 APN 8 106,342,490 (GRCm39) missense possibly damaging 0.92
dank UTSW 8 106,344,746 (GRCm39) intron probably benign
Regenerative UTSW 8 106,348,063 (GRCm39) missense unknown
riparian UTSW 8 106,344,417 (GRCm39) missense possibly damaging 0.94
R0650:Ripor1 UTSW 8 106,344,746 (GRCm39) intron probably benign
R1109:Ripor1 UTSW 8 106,345,560 (GRCm39) intron probably benign
R1480:Ripor1 UTSW 8 106,342,180 (GRCm39) missense probably damaging 0.96
R1914:Ripor1 UTSW 8 106,343,518 (GRCm39) missense probably damaging 1.00
R1915:Ripor1 UTSW 8 106,343,518 (GRCm39) missense probably damaging 1.00
R2067:Ripor1 UTSW 8 106,344,340 (GRCm39) missense probably benign 0.05
R2111:Ripor1 UTSW 8 106,341,344 (GRCm39) missense probably damaging 1.00
R2513:Ripor1 UTSW 8 106,344,254 (GRCm39) missense probably benign 0.27
R4119:Ripor1 UTSW 8 106,345,489 (GRCm39) intron probably benign
R4120:Ripor1 UTSW 8 106,345,489 (GRCm39) intron probably benign
R4415:Ripor1 UTSW 8 106,344,608 (GRCm39) missense probably benign 0.10
R4668:Ripor1 UTSW 8 106,341,284 (GRCm39) missense probably benign 0.30
R4679:Ripor1 UTSW 8 106,344,417 (GRCm39) missense possibly damaging 0.94
R4777:Ripor1 UTSW 8 106,341,622 (GRCm39) missense probably damaging 1.00
R4930:Ripor1 UTSW 8 106,343,814 (GRCm39) missense probably damaging 1.00
R5004:Ripor1 UTSW 8 106,345,452 (GRCm39) frame shift probably null
R5569:Ripor1 UTSW 8 106,344,147 (GRCm39) missense probably damaging 0.98
R5868:Ripor1 UTSW 8 106,342,636 (GRCm39) missense probably damaging 1.00
R7187:Ripor1 UTSW 8 106,344,506 (GRCm39) missense probably benign 0.22
R7311:Ripor1 UTSW 8 106,344,447 (GRCm39) nonsense probably null
R8117:Ripor1 UTSW 8 106,344,105 (GRCm39) missense probably damaging 0.98
R8165:Ripor1 UTSW 8 106,347,520 (GRCm39) missense unknown
R9047:Ripor1 UTSW 8 106,342,783 (GRCm39) missense probably damaging 1.00
R9056:Ripor1 UTSW 8 106,344,072 (GRCm39) missense possibly damaging 0.67
R9172:Ripor1 UTSW 8 106,347,833 (GRCm39) missense unknown
R9246:Ripor1 UTSW 8 106,345,522 (GRCm39) missense unknown
R9267:Ripor1 UTSW 8 106,348,063 (GRCm39) missense unknown
R9798:Ripor1 UTSW 8 106,342,798 (GRCm39) missense possibly damaging 0.95
Posted On 2015-12-18