Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Rere'

369203

Institutional Source

Beutler Lab

Gene Symbol

Rere

Ensembl Gene

ENSMUSG00000039852

Gene Name

arginine glutamic acid dipeptide (RE) repeats

Synonyms

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

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150281646-150621966 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 150615167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80TZ9

Predicted Effect

unknown
Transcript: ENSMUST00000105680
AA Change: Q635K

SMART Domains

Protein: ENSMUSP00000101305
Gene: ENSMUSG00000039852
AA Change: Q635K

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: Q903K

SMART Domains

Protein: ENSMUSP00000101307
Gene: ENSMUSG00000039852
AA Change: Q903K

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

Meta Mutation Damage Score

0.1206

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,624,965	D617E	probably benign	Het
2210408I21Rik	T	C	13: 77,323,724	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,528,752	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,643,315		probably benign	Het
Atg2b	A	G	12: 105,652,629	S813P	probably benign	Het
Atp13a3	T	A	16: 30,341,240	I716F	probably damaging	Het
Atp6v1c1	T	A	15: 38,689,176	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,042,361	A1312S	probably benign	Het
B230359F08Rik	T	A	14: 53,795,951	C106S	probably damaging	Het
Bcl2	A	T	1: 106,712,608	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,630,302	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,433,847	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,742	M75L	probably benign	Het
Ccdc122	T	G	14: 77,111,607		probably benign	Het
Ccdc57	T	G	11: 120,881,857	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,024,926	R720*	probably null	Het
Cenpx	T	G	11: 120,711,784		probably benign	Het
Clic3	T	C	2: 25,458,182	S114P	probably damaging	Het
Crtac1	A	T	19: 42,323,801	W158R	possibly damaging	Het
Dhrs11	T	A	11: 84,828,800	Q33L	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpp9	G	T	17: 56,191,016	Q647K	probably damaging	Het
Egf	C	T	3: 129,716,678	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,189,520		probably benign	Het
Epas1	A	G	17: 86,805,839	N151S	probably benign	Het
Fastkd1	A	T	2: 69,691,307	I707K	probably benign	Het
Fbln2	A	G	6: 91,269,186	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,703,497	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,891,658		noncoding transcript	Het
Gm5145	G	T	17: 20,570,548	V63F	probably damaging	Het
Gm9970	G	T	5: 31,241,085		probably benign	Het
Gpr158	A	G	2: 21,783,182	T545A	probably damaging	Het
Heatr1	G	A	13: 12,412,048	E685K	probably benign	Het
Herc6	A	T	6: 57,604,166	I284F	probably damaging	Het
Hook1	C	G	4: 96,002,557	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,190,698	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096		probably benign	Het
Ildr1	A	T	16: 36,722,555	H439L	possibly damaging	Het
Itga11	A	G	9: 62,776,727		probably null	Het
Jag2	A	T	12: 112,916,632	D337E	probably benign	Het
Krt82	C	T	15: 101,550,488	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,359,480	M1K	probably null	Het
Lrrc32	T	G	7: 98,499,017	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,911,413	V20E	probably damaging	Het
Lyar	T	A	5: 38,227,886	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,141,185	R778*	probably null	Het
Mapk6	A	G	9: 75,388,432	F595L	probably benign	Het
Mccc1	A	G	3: 35,985,001	I281T	probably damaging	Het
Mep1b	T	C	18: 21,093,254	V391A	probably damaging	Het
Mier1	G	A	4: 103,130,998	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432	H38R	probably benign	Het
Mroh4	A	G	15: 74,626,179	L184P	probably damaging	Het
Muc2	C	A	7: 141,754,140	N834K	probably benign	Het
Mycl	A	G	4: 123,000,256	D283G	probably damaging	Het
Myh6	T	C	14: 54,953,293	N975S	probably damaging	Het
Myl12a	A	G	17: 70,996,302		probably benign	Het
Mysm1	T	C	4: 94,965,673	T230A	probably benign	Het
Naca	A	G	10: 128,047,803	K2099R	probably null	Het
Nbeal1	T	G	1: 60,222,193		probably null	Het
Nedd1	A	G	10: 92,698,910	V246A	probably benign	Het
Nid2	A	G	14: 19,789,761	D806G	probably benign	Het
Ninl	G	A	2: 150,959,881	R156*	probably null	Het
Obscn	T	A	11: 59,069,859	I3418F	probably damaging	Het
Olfr970	T	A	9: 39,819,897	V86E	probably benign	Het
Pappa2	T	C	1: 158,857,379	N730S	probably damaging	Het
Pcm1	G	A	8: 41,293,678	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,323,104	I485N	probably damaging	Het
Phldb2	T	C	16: 45,825,874	R111G	probably damaging	Het
Prdm10	T	C	9: 31,341,273	F385S	probably damaging	Het
Prkcsh	C	T	9: 22,011,738	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,150,042	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,395,378	D251G	probably damaging	Het
Radil	A	G	5: 142,485,163	F1088L	probably benign	Het
Rnf167	T	A	11: 70,650,135	C196S	probably benign	Het
Robo2	T	A	16: 74,352,745	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,803,507	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,693,712	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,943,900	L369S	probably benign	Het
Sgpl1	A	T	10: 61,123,344	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc1a6	A	T	10: 78,800,118	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,360,053	Y1781*	probably null	Het
Smg1	T	C	7: 118,180,474	S1233G	probably benign	Het
Snap91	A	T	9: 86,783,454		probably benign	Het
Snx29	T	A	16: 11,420,736	L112Q	probably damaging	Het
Sptbn5	T	C	2: 120,059,141		probably benign	Het
Srl	A	T	16: 4,492,358	H502Q	possibly damaging	Het
St5	C	T	7: 109,557,033	G170D	probably damaging	Het
St8sia3	A	G	18: 64,271,749	M366V	probably benign	Het
Stk19	A	T	17: 34,822,509		probably benign	Het
Syngap1	G	A	17: 26,961,449	A611T	probably benign	Het
Tas2r113	A	G	6: 132,893,707	T233A	possibly damaging	Het
Tbcc	G	A	17: 46,891,219	W177*	probably null	Het
Tcstv3	T	A	13: 120,318,082		probably null	Het
Trmt61a	G	A	12: 111,678,713	V28M	possibly damaging	Het
Ubap2l	G	A	3: 90,020,903	T553M	probably damaging	Het
Urb1	T	C	16: 90,757,827	N1839S	probably benign	Het
Ush2a	T	C	1: 188,743,545	L2893P	probably damaging	Het
Usp24	G	A	4: 106,360,162	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,869,910	E198G	probably benign	Het
Vps13d	A	C	4: 145,178,056	S130A	probably damaging	Het
Zfp426	T	A	9: 20,471,014	I211F	probably benign	Het
Znfx1	T	C	2: 167,038,569		probably null	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
IGL02621:Rere	APN	4	150613812	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
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
R8921:Rere	UTSW	4	150612014	missense	unknown
R8937:Rere	UTSW	4	150614874	unclassified	probably benign
R9345:Rere	UTSW	4	150470313	missense	probably damaging	0.99
R9377:Rere	UTSW	4	150508885	missense	unknown
R9490:Rere	UTSW	4	150431583	missense	probably benign	0.16
R9523:Rere	UTSW	4	150619179	missense	probably damaging	0.98
R9653:Rere	UTSW	4	150431553	missense	probably benign	0.28
R9657:Rere	UTSW	4	150614933	missense	unknown
Z1176:Rere	UTSW	4	150468783	missense	probably damaging	1.00
Z1177:Rere	UTSW	4	150615811	missense

Predicted Primers

PCR Primer
(F):5'- ATCCTCCACTGCAGCCTATGAC -3'
(R):5'- AGTGAGCTCAGGGGTTTCAG -3'

Sequencing Primer
(F):5'- TGCAGCCTATGACTGCAC -3'
(R):5'- CTCAGGGGTTTCAGGGCTG -3'

Posted On

2016-02-04