Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Ripor1'

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

Fam65a, 2310066E14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

105605255-105622219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105617571 bp (GRCm38)

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

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: ENSMUST00000158807

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
dank	UTSW	8	105618114	intron	probably benign
Regenerative	UTSW	8	105621431	missense	unknown
riparian	UTSW	8	105617785	missense	possibly damaging	0.94
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
R9047:Ripor1	UTSW	8	105616151	missense	probably damaging	1.00
R9056:Ripor1	UTSW	8	105617440	missense	possibly damaging	0.67
R9172:Ripor1	UTSW	8	105621201	missense	unknown
R9246:Ripor1	UTSW	8	105618890	missense	unknown
R9267:Ripor1	UTSW	8	105621431	missense	unknown
R9798:Ripor1	UTSW	8	105616166	missense	possibly damaging	0.95

Posted On

2015-12-18