Mutagenetix > Incidental Mutation

Incidental Mutation 'R1506:Rcor1'

167949

Institutional Source

Beutler Lab

Gene Symbol

Rcor1

Ensembl Gene

ENSMUSG00000037896

Gene Name

REST corepressor 1

Synonyms

D12Wsu95e, Rocr1, 6720480E22Rik

MMRRC Submission

039554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111005801-111082336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111076271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 410 (S410P)

Ref Sequence

ENSEMBL: ENSMUSP00000082034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084968] [ENSMUST00000116388]

AlphaFold

Q8CFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084968
AA Change: S410P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: S410P

Domain	Start	End	E-Value	Type
low complexity region	21	58	N/A	INTRINSIC
low complexity region	66	98	N/A	INTRINSIC
ELM2	99	154	1.12e-14	SMART
SANT	185	233	4.49e-7	SMART
low complexity region	250	260	N/A	INTRINSIC
low complexity region	318	331	N/A	INTRINSIC
SANT	376	424	2.52e-10	SMART
low complexity region	453	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000116388
AA Change: S312P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: S312P

Domain	Start	End	E-Value	Type
ELM2	1	56	1.12e-14	SMART
SANT	87	135	4.49e-7	SMART
low complexity region	152	162	N/A	INTRINSIC
coiled coil region	230	265	N/A	INTRINSIC
SANT	278	326	2.52e-10	SMART
low complexity region	355	367	N/A	INTRINSIC

Meta Mutation Damage Score

0.3439

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic lethality, defective embryonic erythropoiesis, and decreased erythroid progenitor cell number. No homozygotes survive to P7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	T	11: 94,248,144 (GRCm39)	T1152K	possibly damaging	Het
Acp3	T	A	9: 104,201,373 (GRCm39)	T82S	probably damaging	Het
Adam23	C	T	1: 63,586,973 (GRCm39)	P445S	probably benign	Het
Ap3b1	T	A	13: 94,582,651 (GRCm39)		probably benign	Het
Artn	A	G	4: 117,784,058 (GRCm39)	V136A	probably damaging	Het
Ash1l	A	G	3: 88,965,806 (GRCm39)	T2403A	probably damaging	Het
Bbof1	G	T	12: 84,470,273 (GRCm39)	V120L	probably damaging	Het
Boc	A	G	16: 44,323,928 (GRCm39)	Y158H	probably damaging	Het
Casp8	A	G	1: 58,863,355 (GRCm39)	E105G	probably damaging	Het
Cers4	T	C	8: 4,570,557 (GRCm39)	F206L	probably benign	Het
Chrna9	A	G	5: 66,126,479 (GRCm39)	T78A	probably benign	Het
Creb3	A	T	4: 43,566,193 (GRCm39)	T263S	possibly damaging	Het
Cyp2c40	A	G	19: 39,766,443 (GRCm39)	V384A	probably damaging	Het
Dip2b	G	A	15: 100,080,994 (GRCm39)	V879M	probably damaging	Het
Dnah17	C	A	11: 118,016,213 (GRCm39)	V14F	possibly damaging	Het
Epb41l4b	T	A	4: 57,088,824 (GRCm39)	K144N	probably damaging	Het
Ercc6	A	T	14: 32,291,821 (GRCm39)	I1062F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	C	A	11: 55,175,090 (GRCm39)	E1874D	probably benign	Het
Fbxw21	T	A	9: 108,977,257 (GRCm39)	I151F	probably damaging	Het
Fhip2a	A	G	19: 57,357,007 (GRCm39)	I33V	probably benign	Het
Foxn1	A	G	11: 78,256,761 (GRCm39)		probably benign	Het
Gpr63	G	A	4: 25,008,227 (GRCm39)	R317H	probably damaging	Het
Grip1	C	A	10: 119,814,356 (GRCm39)	H296N	probably damaging	Het
Gtdc1	A	T	2: 44,465,506 (GRCm39)	M288K	possibly damaging	Het
Guf1	T	A	5: 69,724,509 (GRCm39)	D488E	possibly damaging	Het
Gvin3	C	T	7: 106,200,788 (GRCm39)	D819N	probably benign	Het
Heatr5b	C	A	17: 79,060,576 (GRCm39)	R2033L	probably damaging	Het
Hsd17b2	T	A	8: 118,429,004 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,255,746 (GRCm39)	L913*	probably null	Het
Inppl1	A	C	7: 101,473,174 (GRCm39)	S1159A	probably benign	Het
Kcnk7	G	A	19: 5,756,140 (GRCm39)	C122Y	probably damaging	Het
Mtor	A	G	4: 148,620,962 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,574,033 (GRCm39)	S704C	possibly damaging	Het
Nckap5	A	T	1: 125,953,650 (GRCm39)	C967*	probably null	Het
Nek10	T	C	14: 14,999,078 (GRCm38)		probably benign	Het
Oas1h	A	T	5: 121,009,951 (GRCm39)	D342V	possibly damaging	Het
Or10j2	A	G	1: 173,098,336 (GRCm39)	N198S	probably benign	Het
Or2ak7	T	A	11: 58,575,014 (GRCm39)	L105Q	probably benign	Het
Or2n1	A	T	17: 38,486,091 (GRCm39)	M39L	probably benign	Het
Or4m1	A	G	14: 50,557,941 (GRCm39)	V117A	probably benign	Het
Or8b1b	T	C	9: 38,375,439 (GRCm39)	M34T	probably benign	Het
Prex1	A	T	2: 166,429,001 (GRCm39)	V694E	probably damaging	Het
Rad50	G	A	11: 53,570,312 (GRCm39)	A810V	probably damaging	Het
Rps14	A	T	18: 60,909,551 (GRCm39)	N26I	probably benign	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc5a1	T	A	5: 33,312,052 (GRCm39)	N481K	possibly damaging	Het
Slco3a1	A	T	7: 74,009,683 (GRCm39)		probably null	Het
Spart	T	C	3: 55,024,992 (GRCm39)	S196P	probably damaging	Het
Speg	A	G	1: 75,394,307 (GRCm39)	T1701A	probably benign	Het
Sugt1	A	G	14: 79,862,365 (GRCm39)	N271S	probably benign	Het
Tbx15	A	T	3: 99,259,228 (GRCm39)	L366F	possibly damaging	Het
Tnc	G	A	4: 63,925,921 (GRCm39)	T953I	possibly damaging	Het
Uqcc1	A	G	2: 155,753,738 (GRCm39)	S46P	probably damaging	Het
Vmn2r18	T	C	5: 151,499,099 (GRCm39)		probably null	Het
Vmn2r7	T	A	3: 64,614,500 (GRCm39)	Y438F	probably benign	Het
Vmn2r72	T	A	7: 85,398,419 (GRCm39)	K520N	probably benign	Het
Vps52	T	C	17: 34,176,868 (GRCm39)	L74P	probably damaging	Het
Xpo5	G	T	17: 46,538,814 (GRCm39)	M673I	probably benign	Het
Zscan18	A	G	7: 12,508,129 (GRCm39)	V457A	probably damaging	Het

Other mutations in Rcor1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Rcor1	APN	12	111,070,193 (GRCm39)	missense	possibly damaging	0.92
R0103:Rcor1	UTSW	12	111,076,212 (GRCm39)	splice site	probably benign
R0103:Rcor1	UTSW	12	111,076,212 (GRCm39)	splice site	probably benign
R0504:Rcor1	UTSW	12	111,068,102 (GRCm39)	missense	probably benign	0.03
R1540:Rcor1	UTSW	12	111,070,037 (GRCm39)	splice site	probably benign
R2356:Rcor1	UTSW	12	111,076,226 (GRCm39)	missense	probably damaging	0.99
R3882:Rcor1	UTSW	12	111,070,187 (GRCm39)	missense	probably damaging	1.00
R3952:Rcor1	UTSW	12	111,006,169 (GRCm39)	unclassified	probably benign
R4881:Rcor1	UTSW	12	111,063,986 (GRCm39)	missense	probably damaging	1.00
R5718:Rcor1	UTSW	12	111,068,069 (GRCm39)	missense	probably benign	0.13
R6250:Rcor1	UTSW	12	111,078,311 (GRCm39)	missense	probably benign	0.00
R6798:Rcor1	UTSW	12	111,006,320 (GRCm39)	splice site	probably benign
R6901:Rcor1	UTSW	12	111,075,322 (GRCm39)	missense	probably damaging	0.97
R7538:Rcor1	UTSW	12	111,034,271 (GRCm39)	splice site	probably null
R7761:Rcor1	UTSW	12	111,076,297 (GRCm39)	missense
R8334:Rcor1	UTSW	12	111,059,529 (GRCm39)	missense
R9016:Rcor1	UTSW	12	111,047,933 (GRCm39)	intron	probably benign
R9236:Rcor1	UTSW	12	111,070,080 (GRCm39)	missense
R9242:Rcor1	UTSW	12	111,076,228 (GRCm39)	nonsense	probably null
R9263:Rcor1	UTSW	12	111,078,327 (GRCm39)	missense
R9310:Rcor1	UTSW	12	111,066,393 (GRCm39)	missense
X0027:Rcor1	UTSW	12	111,006,435 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTACACCGTCGTCTGTCAGATACC -3'
(R):5'- AGTAAGCAGCCCACAGTGATGACC -3'

Sequencing Primer
(F):5'- tttagctccaaaggacccac -3'
(R):5'- GTGATGACCTACCCACGTCAG -3'

Posted On

2014-04-13