Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02621:Rere'

300860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rere

Ensembl Gene

ENSMUSG00000039852

Gene Name

arginine glutamic acid dipeptide (RE) repeats

Synonyms

1110033A15Rik, eyes3, Atr2, eye, atrophin-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02621

Quality Score

Status

Chromosome

Chromosomal Location

150281646-150621966 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 150613812 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105680] [ENSMUST00000105682] [ENSMUST00000136646]

Predicted Effect

unknown
Transcript: ENSMUST00000105680
AA Change: G342S

SMART Domains

Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: G342S

Domain	Start	End	E-Value	Type
ELM2	18	70	1.67e-13	SMART
SANT	124	173	1.8e-6	SMART
low complexity region	176	193	N/A	INTRINSIC
ZnF_GATA	233	284	1.94e-15	SMART
Pfam:Atrophin-1	300	1290	N/A	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000105682
AA Change: G610S

SMART Domains

Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: G610S

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	85	N/A	INTRINSIC
BAH	103	283	3.52e-13	SMART
ELM2	286	338	1.67e-13	SMART
SANT	392	441	1.8e-6	SMART
low complexity region	444	461	N/A	INTRINSIC
ZnF_GATA	501	552	1.94e-15	SMART
Pfam:Atrophin-1	568	1557	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136646

SMART Domains

Protein: ENSMUSP00000121544
Gene: ENSMUSG00000039852

Domain	Start	End	E-Value	Type
Pfam:Atrophin-1	1	199	2.2e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137112

Predicted Effect

probably benign
Transcript: ENSMUST00000219467

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality with abnormalities in neural tube development, somite development, and in the embryonic heart. Mice homozygous for an ENU-induced allele exhibit narrow snouts, decreased body weight, renal agenesis and small eyes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	C	A	12: 3,426,688		probably benign	Het
2210408I21Rik	T	C	13: 77,260,031	I159T	possibly damaging	Het
4932438A13Rik	T	A	3: 37,041,484		probably benign	Het
Agpat3	T	A	10: 78,285,066	I93F	probably damaging	Het
AI481877	A	T	4: 59,062,668	W863R	probably damaging	Het
Armc8	T	C	9: 99,527,069		probably benign	Het
Atr	G	A	9: 95,908,400	A1598T	probably benign	Het
Clk1	T	C	1: 58,414,455	D324G	probably damaging	Het
Cntnap4	A	T	8: 112,810,723	D742V	probably damaging	Het
Esrrb	A	G	12: 86,421,961	N16S	probably benign	Het
Grm1	A	T	10: 10,689,011	Y1184*	probably null	Het
Hint1	G	T	11: 54,870,185		probably benign	Het
Itch	A	T	2: 155,172,584		probably null	Het
Lmod3	T	C	6: 97,238,835		probably benign	Het
Map3k4	C	A	17: 12,264,013	A606S	probably damaging	Het
Mapk4	A	T	18: 73,970,275	S54R	probably damaging	Het
Megf11	A	G	9: 64,693,932	D807G	probably benign	Het
Mgat5	A	G	1: 127,397,589	T398A	possibly damaging	Het
Nme8	T	G	13: 19,675,648	K28N	probably damaging	Het
Pamr1	A	G	2: 102,634,343	N279S	probably benign	Het
Pcca	A	T	14: 122,684,979	D384V	probably damaging	Het
Prkag1	A	T	15: 98,814,028	I239N	probably damaging	Het
Psme4	A	G	11: 30,848,131	T1375A	probably benign	Het
Ptk2	A	C	15: 73,206,145	L1024R	probably damaging	Het
Scn2a	A	G	2: 65,748,879		probably benign	Het
Sema5a	T	A	15: 32,538,656		probably benign	Het
Slc9a1	T	A	4: 133,370,568	W9R	probably benign	Het
Slco1a5	T	A	6: 142,242,015	M533L	probably benign	Het
Ttll4	T	A	1: 74,687,484	S720T	probably damaging	Het
Vmn1r168	A	T	7: 23,541,355	R212S	probably damaging	Het
Vmn2r114	T	C	17: 23,310,520	I203V	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het

Other mutations in Rere

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Rere	APN	4	150619463	missense	probably damaging	1.00
IGL01465:Rere	APN	4	150509994	missense	unknown
IGL01523:Rere	APN	4	150615555	missense	possibly damaging	0.93
IGL01688:Rere	APN	4	150618436	missense	probably damaging	1.00
IGL02057:Rere	APN	4	150614832	unclassified	probably benign
IGL02672:Rere	APN	4	150510026	missense	unknown
R0116:Rere	UTSW	4	150616976	missense	probably benign	0.18
R0119:Rere	UTSW	4	150615322	unclassified	probably benign
R0344:Rere	UTSW	4	150610981	unclassified	probably benign
R0504:Rere	UTSW	4	150615322	unclassified	probably benign
R0630:Rere	UTSW	4	150619088	missense	probably damaging	1.00
R0961:Rere	UTSW	4	150615372	unclassified	probably benign
R1164:Rere	UTSW	4	150534884	missense	unknown
R1424:Rere	UTSW	4	150617038	missense	probably damaging	1.00
R1542:Rere	UTSW	4	150615942	missense	probably damaging	1.00
R1652:Rere	UTSW	4	150612065	unclassified	probably benign
R1953:Rere	UTSW	4	150616837	missense	probably damaging	1.00
R1959:Rere	UTSW	4	150468790	missense	probably benign	0.23
R1966:Rere	UTSW	4	150616873	missense	probably damaging	1.00
R1975:Rere	UTSW	4	150615733	missense	probably damaging	0.99
R2070:Rere	UTSW	4	150614590	unclassified	probably benign
R2115:Rere	UTSW	4	150612561	unclassified	probably benign
R2144:Rere	UTSW	4	150616931	missense	probably damaging	0.99
R2270:Rere	UTSW	4	150477380	missense	unknown
R2969:Rere	UTSW	4	150570216	missense	unknown
R3699:Rere	UTSW	4	150477362	critical splice acceptor site	probably null
R3723:Rere	UTSW	4	150468795	missense	probably damaging	1.00
R3826:Rere	UTSW	4	150470328	missense	probably benign	0.42
R4234:Rere	UTSW	4	150617405	missense	probably damaging	1.00
R4512:Rere	UTSW	4	150477452	missense	unknown
R4798:Rere	UTSW	4	150615167	unclassified	probably benign
R4883:Rere	UTSW	4	150616053	missense	probably damaging	0.98
R4914:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4916:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4917:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4918:Rere	UTSW	4	150619144	missense	probably damaging	1.00
R4966:Rere	UTSW	4	150613816	unclassified	probably benign
R5172:Rere	UTSW	4	150570269	missense	unknown
R5643:Rere	UTSW	4	150617243	missense	probably damaging	1.00
R6058:Rere	UTSW	4	150468798	missense	probably damaging	1.00
R7112:Rere	UTSW	4	150406604	missense	probably benign
R7173:Rere	UTSW	4	150468738	missense	probably damaging	1.00
R7190:Rere	UTSW	4	150610953	missense	unknown
R7699:Rere	UTSW	4	150617098	missense
R7990:Rere	UTSW	4	150614870	missense	unknown
R8070:Rere	UTSW	4	150617375	missense	probably damaging	1.00
R8101:Rere	UTSW	4	150617339	missense	probably damaging	1.00
R8103:Rere	UTSW	4	150617339	missense	probably damaging	1.00
R8215:Rere	UTSW	4	150616967	missense	possibly damaging	0.95
R8254:Rere	UTSW	4	150612672	missense	unknown
R8348:Rere	UTSW	4	150619196	missense	probably damaging	1.00
R8448:Rere	UTSW	4	150619196	missense	probably damaging	1.00
R8725:Rere	UTSW	4	150617335	nonsense	probably null
R8790:Rere	UTSW	4	150508875	missense	unknown
Z1176:Rere	UTSW	4	150468783	missense	probably damaging	1.00
Z1177:Rere	UTSW	4	150615811	missense

Posted On

2015-04-16