Mutagenetix > Incidental Mutation

Incidental Mutation 'R3000:Ripor3'

257242

Institutional Source

Beutler Lab

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 #

R3000 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

167822084-167852538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 167833100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 357 (Y357N)

Ref Sequence

ENSEMBL: ENSMUSP00000096672 (fasta)

Gene Model

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

AlphaFold

A1L3T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099073
AA Change: Y357N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: Y357N

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

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	A	G	8: 23,609,447 (GRCm39)	K1364E	probably damaging	Het
Ankrd27	T	A	7: 35,307,755 (GRCm39)	N331K	probably damaging	Het
Bco2	C	A	9: 50,450,229 (GRCm39)	D324Y	probably damaging	Het
Cpne1	A	G	2: 155,915,342 (GRCm39)	*211R	probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Khdrbs1	A	T	4: 129,619,456 (GRCm39)	H228Q	probably damaging	Het
Lrfn1	G	A	7: 28,166,832 (GRCm39)	G742E	probably damaging	Het
Lrrc45	T	A	11: 120,609,273 (GRCm39)	D377E	probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mcoln3	T	A	3: 145,839,662 (GRCm39)	I338N	possibly damaging	Het
Mep1b	G	A	18: 21,226,361 (GRCm39)	G408S	probably damaging	Het
Pdlim5	C	A	3: 142,017,892 (GRCm39)	Q125H	probably damaging	Het
Peg10	CCAACAACAACAACAACAACAACA	CCAACAACAACAACAACAACA	6: 4,754,276 (GRCm39)		probably benign	Het
Pkd1	G	A	17: 24,813,460 (GRCm39)	R4000H	probably damaging	Het
Smchd1	A	T	17: 71,670,033 (GRCm39)	D1679E	probably benign	Het
Stac3	C	T	10: 127,344,016 (GRCm39)	R305C	probably benign	Het
Tex10	A	T	4: 48,459,393 (GRCm39)		probably null	Het
Ttc21a	T	C	9: 119,781,320 (GRCm39)	Y498H	probably benign	Het
Txnrd2	T	C	16: 18,273,263 (GRCm39)	F239S	probably damaging	Het
Vac14	T	A	8: 111,360,949 (GRCm39)	L173Q	probably damaging	Het
Zfhx4	T	A	3: 5,468,714 (GRCm39)	N2982K	probably damaging	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
IGL03187:Ripor3	APN	2	167,827,588 (GRCm39)	missense	possibly damaging	0.64
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
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

Predicted Primers

PCR Primer
(F):5'- ACACACATAGCACACACCACA -3'
(R):5'- TGGCAAGGAGTCTCAGAGTTCC -3'

Sequencing Primer
(F):5'- GCACATACACAGCACATATATACAG -3'
(R):5'- GGAGTCTCAGAGTTCCTTTGAAAGAC -3'

Posted On

2015-01-11