Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00598:Ripor1'

277826

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 #

IGL00598

Quality Score

Status

Chromosome

Chromosomal Location

106331887-106348851 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 106348065 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

unknown
Transcript: ENSMUST00000043531
AA Change: V1147M

SMART Domains

Protein: ENSMUSP00000039966
Gene: ENSMUSG00000038604
AA Change: V1147M

Domain	Start	End	E-Value	Type
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: ENSMUST00000182046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182863

Predicted Effect

probably benign
Transcript: ENSMUST00000194091

SMART Domains

Protein: ENSMUSP00000142044
Gene: ENSMUSG00000005705

Domain	Start	End	E-Value	Type
Agouti	1	121	2.01e-56	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh11	T	C	8: 103,377,281 (GRCm39)	N455S	probably damaging	Het
Cimip4	C	T	15: 78,270,438 (GRCm39)	G110D	probably damaging	Het
Clock	T	C	5: 76,377,311 (GRCm39)	I663V	probably benign	Het
Farp2	A	T	1: 93,531,103 (GRCm39)	M534L	probably benign	Het
Gm5464	C	T	14: 67,106,836 (GRCm39)		probably benign	Het
Ncoa1	T	A	12: 4,328,218 (GRCm39)	R873S	probably benign	Het
Neb	G	A	2: 52,098,313 (GRCm39)	T4616I	possibly damaging	Het
Pbrm1	A	G	14: 30,752,884 (GRCm39)	D107G	probably damaging	Het
Pdcd7	A	T	9: 65,263,700 (GRCm39)	K223*	probably null	Het
Ppp2r5b	A	G	19: 6,280,998 (GRCm39)	F277S	probably damaging	Het
Serpina12	G	A	12: 103,997,373 (GRCm39)	H383Y	probably benign	Het

Other mutations in Ripor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16