Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03187:Ripor3'

412504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ripor3

Ensembl Gene

ENSMUSG00000074577

Gene Name

RIPOR family member 3

Synonyms

Fam65c, 2310033K02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL03187

Quality Score

Status

Chromosome

Chromosomal Location

167822084-167852538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167827588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 621 (V621A)

Ref Sequence

ENSEMBL: ENSMUSP00000096672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099073]

AlphaFold

A1L3T7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099073
AA Change: V621A

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: V621A

Domain	Start	End	E-Value	Type
Pfam:PL48	19	363	3.5e-169	PFAM
low complexity region	414	423	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
low complexity region	582	602	N/A	INTRINSIC
SCOP:d1gw5a_	794	909	6e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142702

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbx	G	A	16: 50,094,926 (GRCm39)	T130I	probably damaging	Het
Cdkl2	A	G	5: 92,165,239 (GRCm39)		probably null	Het
Clrn1	A	G	3: 58,753,854 (GRCm39)	V169A	probably damaging	Het
Erbb3	A	G	10: 128,408,463 (GRCm39)		probably benign	Het
Gucy2g	A	C	19: 55,219,484 (GRCm39)	I379M	possibly damaging	Het
Hps5	A	T	7: 46,422,631 (GRCm39)	L533Q	probably damaging	Het
Kansl1l	T	A	1: 66,765,062 (GRCm39)	K749N	probably damaging	Het
Krt6b	G	T	15: 101,588,392 (GRCm39)	F89L	probably benign	Het
Myh1	T	C	11: 67,097,351 (GRCm39)	F439L	possibly damaging	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nhej1	A	G	1: 75,007,420 (GRCm39)	S111P	possibly damaging	Het
Or4k1	G	T	14: 50,377,257 (GRCm39)	P280T	probably damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Smarca2	A	G	19: 26,650,224 (GRCm39)	N732S	probably damaging	Het
Stx18	G	A	5: 38,284,327 (GRCm39)	E170K	possibly damaging	Het
Syde1	A	T	10: 78,424,943 (GRCm39)	I356N	possibly damaging	Het
Tex2	C	T	11: 106,458,903 (GRCm39)		probably benign	Het
Vmn2r50	T	G	7: 9,771,368 (GRCm39)	T778P	probably damaging	Het
Zfp709	T	G	8: 72,643,126 (GRCm39)	I184S	probably benign	Het

Other mutations in Ripor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Ripor3	APN	2	167,835,495 (GRCm39)	missense	probably benign	0.05
IGL01621:Ripor3	APN	2	167,839,172 (GRCm39)	missense	probably damaging	0.97
IGL01819:Ripor3	APN	2	167,822,763 (GRCm39)	missense	probably damaging	0.99
IGL01891:Ripor3	APN	2	167,825,071 (GRCm39)	missense	possibly damaging	0.95
IGL02110:Ripor3	APN	2	167,836,626 (GRCm39)	missense	possibly damaging	0.95
IGL02270:Ripor3	APN	2	167,835,416 (GRCm39)	missense	probably damaging	0.97
IGL02403:Ripor3	APN	2	167,831,250 (GRCm39)	missense	probably damaging	1.00
IGL02445:Ripor3	APN	2	167,834,682 (GRCm39)	splice site	probably benign
IGL02447:Ripor3	APN	2	167,834,750 (GRCm39)	missense	probably damaging	0.99
IGL02711:Ripor3	APN	2	167,848,200 (GRCm39)	utr 5 prime	probably benign
IGL03304:Ripor3	APN	2	167,822,848 (GRCm39)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,826,358 (GRCm39)	splice site	probably benign
R0062:Ripor3	UTSW	2	167,826,358 (GRCm39)	splice site	probably benign
R0233:Ripor3	UTSW	2	167,834,518 (GRCm39)	missense	probably damaging	1.00
R0233:Ripor3	UTSW	2	167,834,518 (GRCm39)	missense	probably damaging	1.00
R0387:Ripor3	UTSW	2	167,825,692 (GRCm39)	nonsense	probably null
R1457:Ripor3	UTSW	2	167,834,573 (GRCm39)	missense	probably damaging	1.00
R1481:Ripor3	UTSW	2	167,842,297 (GRCm39)	missense	possibly damaging	0.95
R1619:Ripor3	UTSW	2	167,822,765 (GRCm39)	missense	probably damaging	0.96
R2358:Ripor3	UTSW	2	167,825,785 (GRCm39)	splice site	probably benign
R2431:Ripor3	UTSW	2	167,831,715 (GRCm39)	missense	probably benign	0.06
R2943:Ripor3	UTSW	2	167,825,681 (GRCm39)	missense	possibly damaging	0.46
R3000:Ripor3	UTSW	2	167,833,100 (GRCm39)	missense	probably damaging	1.00
R3730:Ripor3	UTSW	2	167,834,739 (GRCm39)	missense	probably damaging	1.00
R3731:Ripor3	UTSW	2	167,834,739 (GRCm39)	missense	probably damaging	1.00
R4084:Ripor3	UTSW	2	167,826,386 (GRCm39)	missense	possibly damaging	0.55
R4796:Ripor3	UTSW	2	167,823,260 (GRCm39)	missense	probably damaging	0.97
R4854:Ripor3	UTSW	2	167,834,733 (GRCm39)	missense	probably benign	0.05
R4934:Ripor3	UTSW	2	167,824,736 (GRCm39)	missense	probably benign
R4968:Ripor3	UTSW	2	167,827,037 (GRCm39)	missense	probably benign	0.41
R5662:Ripor3	UTSW	2	167,835,476 (GRCm39)	missense	probably benign	0.01
R5739:Ripor3	UTSW	2	167,823,203 (GRCm39)	missense	probably damaging	1.00
R5888:Ripor3	UTSW	2	167,839,207 (GRCm39)	missense	probably damaging	1.00
R6844:Ripor3	UTSW	2	167,835,253 (GRCm39)	splice site	probably null
R6969:Ripor3	UTSW	2	167,827,657 (GRCm39)	missense	probably benign	0.01
R6994:Ripor3	UTSW	2	167,839,186 (GRCm39)	missense	probably damaging	0.99
R7609:Ripor3	UTSW	2	167,826,490 (GRCm39)	missense	possibly damaging	0.86
R7818:Ripor3	UTSW	2	167,831,346 (GRCm39)	missense	probably benign	0.09
R8175:Ripor3	UTSW	2	167,825,679 (GRCm39)	missense	probably benign	0.00
R8329:Ripor3	UTSW	2	167,825,119 (GRCm39)	missense	possibly damaging	0.89
R9120:Ripor3	UTSW	2	167,822,835 (GRCm39)	missense	possibly damaging	0.79
R9130:Ripor3	UTSW	2	167,823,267 (GRCm39)	nonsense	probably null
R9408:Ripor3	UTSW	2	167,831,238 (GRCm39)	missense	probably benign	0.09
R9550:Ripor3	UTSW	2	167,822,807 (GRCm39)	missense	probably benign	0.23
R9660:Ripor3	UTSW	2	167,831,646 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02