Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Ripor1'

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

Fam65a, 2310066E14Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

105605255-105622219 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 105619930 bp (GRCm38)

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

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	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
IGL01733:Ripor1	APN	8	105615746	missense	possibly damaging	0.63
IGL02805:Ripor1	APN	8	105617571	missense	probably damaging	0.99
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

2013-12-03