Incidental Mutation 'IGL02805:Ripor1'
ID360377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor1
Ensembl Gene ENSMUSG00000038604
Gene NameRHO family interacting cell polarization regulator 1
SynonymsFam65a, 2310066E14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.536) question?
Stock #IGL02805
Quality Score
Status
Chromosome8
Chromosomal Location105605255-105622219 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105617571 bp
ZygosityHeterozygous
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]
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: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Ripor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ripor1 APN 8 105621433 intron probably benign
IGL00658:Ripor1 APN 8 105618117 intron probably benign
IGL01511:Ripor1 APN 8 105619930 intron probably benign
IGL01733:Ripor1 APN 8 105615746 missense possibly damaging 0.63
IGL03049:Ripor1 APN 8 105615447 missense probably damaging 0.96
IGL03246:Ripor1 APN 8 105615858 missense possibly damaging 0.92
R0650:Ripor1 UTSW 8 105618114 intron probably benign
R1109:Ripor1 UTSW 8 105618928 intron probably benign
R1480:Ripor1 UTSW 8 105615548 missense probably damaging 0.96
R1914:Ripor1 UTSW 8 105616886 missense probably damaging 1.00
R1915:Ripor1 UTSW 8 105616886 missense probably damaging 1.00
R2067:Ripor1 UTSW 8 105617708 missense probably benign 0.05
R2111:Ripor1 UTSW 8 105614712 missense probably damaging 1.00
R2513:Ripor1 UTSW 8 105617622 missense probably benign 0.27
R4119:Ripor1 UTSW 8 105618857 intron probably benign
R4120:Ripor1 UTSW 8 105618857 intron probably benign
R4415:Ripor1 UTSW 8 105617976 missense probably benign 0.10
R4668:Ripor1 UTSW 8 105614652 missense probably benign 0.30
R4679:Ripor1 UTSW 8 105617785 missense possibly damaging 0.94
R4777:Ripor1 UTSW 8 105614990 missense probably damaging 1.00
R4930:Ripor1 UTSW 8 105617182 missense probably damaging 1.00
R5004:Ripor1 UTSW 8 105618820 frame shift probably null
R5569:Ripor1 UTSW 8 105617515 missense probably damaging 0.98
R5868:Ripor1 UTSW 8 105616004 missense probably damaging 1.00
R7187:Ripor1 UTSW 8 105617874 missense probably benign 0.22
R7311:Ripor1 UTSW 8 105617815 nonsense probably null
R8117:Ripor1 UTSW 8 105617473 missense probably damaging 0.98
Posted On2015-12-18