Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Rcor1'

505931

Institutional Source

Beutler Lab

Gene Symbol

Rcor1

Ensembl Gene

ENSMUSG00000037896

Gene Name

REST corepressor 1

Synonyms

D12Wsu95e, Rocr1, 6720480E22Rik

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111005801-111082336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111078311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 469 (A469S)

Ref Sequence

ENSEMBL: ENSMUSP00000082034 (fasta)

Gene Model

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

AlphaFold

Q8CFE3

Predicted Effect

probably benign
Transcript: ENSMUST00000084968
AA Change: A469S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: A469S

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 benign
Transcript: ENSMUST00000116388
AA Change: A371S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: A371S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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
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'- ATCTTGGCTAATAGGGAAGCTGAG -3'
(R):5'- AAGTCGTGCCAACATGGAGG -3'

Sequencing Primer
(F):5'- GGCTTAGAAAGAGAAAACTGGTCC -3'
(R):5'- CACGGGACTGGAAGTGTATGC -3'

Posted On

2018-02-28