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: 0.136) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

94328420-94336935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94328543 bp (GRCm38)

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
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Ripply3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Ripply3	UTSW	16	94335757	missense	possibly damaging	0.82
R4568:Ripply3	UTSW	16	94335829	missense	probably damaging	1.00
R7400:Ripply3	UTSW	16	94335900	missense	probably benign	0.32
R8021:Ripply3	UTSW	16	94328510	missense	probably benign	0.05
R8815:Ripply3	UTSW	16	94335864	missense	possibly damaging	0.79
R9632:Ripply3	UTSW	16	94333280	missense	probably benign	0.04

Posted On

2013-11-11