Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Ripply3'

84130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ripply3

Ensembl Gene

ENSMUSG00000022941

Gene Name

ripply transcriptional repressor 3

Synonyms

Dscr6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

94129281-94137794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94129402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 16 (C16Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023660]

AlphaFold

Q924S9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023660
AA Change: C16Y

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023660
Gene: ENSMUSG00000022941
AA Change: C16Y

Domain	Start	End	E-Value	Type
Pfam:Ripply	39	127	6.2e-35	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a reporter allele show complete neonatal lethality, abnormal development of the pharyngeal apparatus and its derivatives including ectopic formation of the thymus and the parathyroid gland, and cardiovascular defects such as deletion of the aortic arch and misshapen great vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,089,838 (GRCm39)	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,477,301 (GRCm39)	V90M	possibly damaging	Het
Atf6	T	C	1: 170,680,571 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,274,301 (GRCm39)	Y607H	probably damaging	Het
Cer1	T	A	4: 82,801,068 (GRCm39)	E198D	probably benign	Het
Dscam	A	G	16: 96,453,278 (GRCm39)		probably null	Het
Ecel1	C	T	1: 87,079,226 (GRCm39)	R484H	probably damaging	Het
Entpd7	C	A	19: 43,718,278 (GRCm39)	H575Q	probably benign	Het
F11r	T	C	1: 171,290,477 (GRCm39)	V279A	probably damaging	Het
Gm17093	T	A	14: 44,759,122 (GRCm39)		probably benign	Het
Got1	T	A	19: 43,491,488 (GRCm39)	K321*	probably null	Het
Gpn1	T	C	5: 31,664,882 (GRCm39)	V302A	probably benign	Het
Hivep1	G	T	13: 42,311,493 (GRCm39)	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,123,817 (GRCm39)	T116A	possibly damaging	Het
Itgb4	C	A	11: 115,897,283 (GRCm39)		probably benign	Het
Mybl1	G	T	1: 9,742,872 (GRCm39)	L579I	probably damaging	Het
Myh14	T	A	7: 44,263,782 (GRCm39)	T1694S	probably null	Het
Mylk3	T	C	8: 86,063,030 (GRCm39)	D537G	probably damaging	Het
Myo1d	A	C	11: 80,565,665 (GRCm39)	F387V	probably damaging	Het
Nek9	T	C	12: 85,361,361 (GRCm39)	Y448C	probably benign	Het
Or8k40	A	T	2: 86,584,508 (GRCm39)	H191Q	probably benign	Het
Paxbp1	T	C	16: 90,832,804 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,055,740 (GRCm39)		probably benign	Het
Retreg2	T	A	1: 75,121,749 (GRCm39)		probably null	Het
Robo3	G	A	9: 37,330,407 (GRCm39)		probably benign	Het
Rrm1	C	A	7: 102,106,759 (GRCm39)		probably benign	Het
Rsad2	T	A	12: 26,498,666 (GRCm39)	R269S	probably benign	Het
Sbp	A	T	17: 24,164,322 (GRCm39)		probably benign	Het
Schip1	A	T	3: 68,525,110 (GRCm39)	Q162L	probably damaging	Het
Senp1	T	C	15: 97,980,144 (GRCm39)	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,309,103 (GRCm39)	R233K	probably damaging	Het
Smoc1	C	A	12: 81,199,525 (GRCm39)	S220*	probably null	Het
Stab1	C	A	14: 30,870,952 (GRCm39)	R1299I	probably benign	Het
Stk17b	A	G	1: 53,805,074 (GRCm39)		probably benign	Het
Tmc7	T	G	7: 118,151,985 (GRCm39)	D312A	probably damaging	Het
Vmn1r79	T	C	7: 11,910,327 (GRCm39)	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,259,128 (GRCm39)	T1591K	possibly damaging	Het

Other mutations in Ripply3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Ripply3	UTSW	16	94,136,616 (GRCm39)	missense	possibly damaging	0.82
R4568:Ripply3	UTSW	16	94,136,688 (GRCm39)	missense	probably damaging	1.00
R7400:Ripply3	UTSW	16	94,136,759 (GRCm39)	missense	probably benign	0.32
R8021:Ripply3	UTSW	16	94,129,369 (GRCm39)	missense	probably benign	0.05
R8815:Ripply3	UTSW	16	94,136,723 (GRCm39)	missense	possibly damaging	0.79
R9632:Ripply3	UTSW	16	94,134,139 (GRCm39)	missense	probably benign	0.04

Posted On

2013-11-11