Incidental Mutation 'IGL01511:Ripor1'
ID 89255
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: 0.553) question?
Stock # IGL01511
Quality Score
Status
Chromosome 8
Chromosomal Location 106331887-106348851 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 106346562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043531] [ENSMUST00000194091]
AlphaFold Q68FE6
Predicted Effect probably benign
Transcript: ENSMUST00000043531
SMART Domains Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604

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 noncoding transcript
Transcript: ENSMUST00000182046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182863
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P 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
IGL01733:Ripor1 APN 8 106,342,378 (GRCm39) missense possibly damaging 0.63
IGL02805:Ripor1 APN 8 106,344,203 (GRCm39) missense probably damaging 0.99
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 2013-12-03