Mutagenetix > Incidental Mutation

Incidental Mutation 'R4881:Rcor1'

375295

Institutional Source

Beutler Lab

Gene Symbol

Rcor1

Ensembl Gene

ENSMUSG00000037896

Gene Name

REST corepressor 1

Synonyms

D12Wsu95e, Rocr1, 6720480E22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111005801-111082336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111063986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 95 (D95G)

Ref Sequence

ENSEMBL: ENSMUSP00000112089 (fasta)

Gene Model

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

AlphaFold

Q8CFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084968
AA Change: D193G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: D193G

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: D95G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: D95G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221105

Meta Mutation Damage Score

0.4303

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (57/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,877,472 (GRCm39)	L1040P	possibly damaging	Het
Acot11	C	A	4: 106,612,502 (GRCm39)		probably null	Het
Aldoart2	C	A	12: 55,612,899 (GRCm39)	Q275K	probably damaging	Het
Auts2	T	C	5: 131,501,288 (GRCm39)	T42A	probably damaging	Het
Bora	C	T	14: 99,299,003 (GRCm39)	L187F	probably damaging	Het
Cbln4	A	G	2: 171,884,059 (GRCm39)	S54P	possibly damaging	Het
Celsr3	T	A	9: 108,721,140 (GRCm39)	L2661Q	probably damaging	Het
Cfap65	T	C	1: 74,946,772 (GRCm39)	T1313A	probably damaging	Het
Dbndd2	C	A	2: 164,332,225 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,746,126 (GRCm39)	D4G	possibly damaging	Het
Dmxl1	T	A	18: 50,090,348 (GRCm39)		probably benign	Het
Dnah7b	T	C	1: 46,240,478 (GRCm39)	C1532R	probably damaging	Het
Erbb3	A	T	10: 128,412,816 (GRCm39)	H591Q	probably benign	Het
Exosc4	T	C	15: 76,213,770 (GRCm39)	L198P	probably damaging	Het
F2r	A	T	13: 95,754,837 (GRCm39)	C16S	possibly damaging	Het
Gtf2h4	A	T	17: 35,981,125 (GRCm39)	I234N	possibly damaging	Het
Ift27	A	T	15: 78,049,448 (GRCm39)	V84D	probably damaging	Het
Ints10	C	T	8: 69,263,256 (GRCm39)	A389V	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Klrc2	T	A	6: 129,637,471 (GRCm39)	T17S	possibly damaging	Het
Matr3	T	A	18: 35,705,428 (GRCm39)	S118T	probably damaging	Het
Mfsd6l	C	T	11: 68,448,748 (GRCm39)	A533V	probably benign	Het
Msh3	A	G	13: 92,402,549 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,191,434 (GRCm39)	M1103V	probably benign	Het
Niban2	C	A	2: 32,812,590 (GRCm39)	Y446*	probably null	Het
Or2y1e	T	A	11: 49,219,124 (GRCm39)	D295E	probably benign	Het
Or5e1	T	C	7: 108,354,612 (GRCm39)	L183P	probably damaging	Het
Or6z3	A	T	7: 6,463,753 (GRCm39)	M82L	probably benign	Het
Osbpl3	A	T	6: 50,329,764 (GRCm39)	D88E	possibly damaging	Het
Pou1f1	C	T	16: 65,328,728 (GRCm39)	T149I	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pstpip2	T	A	18: 77,962,032 (GRCm39)	Y267*	probably null	Het
Rttn	T	C	18: 89,119,809 (GRCm39)	L1748P	probably damaging	Het
Slco2a1	A	G	9: 102,963,031 (GRCm39)	K629E	possibly damaging	Het
Smarcc1	A	G	9: 109,964,696 (GRCm39)		probably benign	Het
Son	A	G	16: 91,472,397 (GRCm39)	K360E	probably benign	Het
Stab1	A	T	14: 30,865,629 (GRCm39)	M1753K	probably benign	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tmem63c	A	T	12: 87,133,192 (GRCm39)	T736S	possibly damaging	Het
Tmpo	G	A	10: 90,998,503 (GRCm39)	P428L	possibly damaging	Het
Tmprss11a	G	T	5: 86,570,432 (GRCm39)	Q176K	probably damaging	Het
Trappc4	A	G	9: 44,315,322 (GRCm39)	S219P	probably damaging	Het
Vmn2r117	G	T	17: 23,696,859 (GRCm39)	P183T	probably damaging	Het
Vmn2r54	C	T	7: 12,363,598 (GRCm39)	V432I	probably benign	Het
Vtcn1	G	A	3: 100,799,909 (GRCm39)	G257R	probably benign	Het
Yipf1	T	A	4: 107,202,288 (GRCm39)	M217K	possibly damaging	Het
Zfc3h1	T	C	10: 115,236,647 (GRCm39)	S374P	probably benign	Het
Zfp407	T	C	18: 84,577,828 (GRCm39)	H1095R	probably benign	Het
Zfp661	A	T	2: 127,420,564 (GRCm39)	H78Q	probably benign	Het
Zfp957	T	C	14: 79,450,849 (GRCm39)	T317A	unknown	Het
Zfyve9	T	A	4: 108,584,688 (GRCm39)		probably null	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
R1506:Rcor1	UTSW	12	111,076,271 (GRCm39)	missense	probably damaging	1.00
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
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'- ACACAATGCCTGTTTGCTG -3'
(R):5'- ACAGAGAAACCCTGTCTTGG -3'

Sequencing Primer
(F):5'- GCTGTCTTCACTCCCGATTTAATGG -3'
(R):5'- ACTCTGTCTCACAAAGAGT -3'

Posted On

2016-03-17