Mutagenetix > Incidental Mutation

Incidental Mutation 'R8334:Rcor1'

644540

Institutional Source

Beutler Lab

Gene Symbol

Rcor1

Ensembl Gene

ENSMUSG00000037896

Gene Name

REST corepressor 1

Synonyms

D12Wsu95e, Rocr1, 6720480E22Rik

MMRRC Submission

067862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111005801-111082336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111059529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 148 (A148T)

Ref Sequence

ENSEMBL: ENSMUSP00000082034 (fasta)

Gene Model

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

AlphaFold

Q8CFE3

Predicted Effect

SMART Domains

Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: A148T

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

SMART Domains

Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: A50T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,959,650 (GRCm39)	S696T	probably damaging	Het
Abhd12	T	C	2: 150,700,373 (GRCm39)	I75V	probably benign	Het
Adamts9	T	C	6: 92,914,225 (GRCm39)		probably null	Het
Ap2a1	C	T	7: 44,554,135 (GRCm39)	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,367,224 (GRCm39)	K394*	probably null	Het
Armc2	A	G	10: 41,799,761 (GRCm39)	F699S	probably damaging	Het
Atat1	C	T	17: 36,220,150 (GRCm39)		probably null	Het
Atm	A	G	9: 53,433,573 (GRCm39)	S226P	probably benign	Het
Bcas3	A	G	11: 85,467,637 (GRCm39)	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,175,753 (GRCm39)	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,777,791 (GRCm39)	L746H	probably damaging	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Ccdc154	T	A	17: 25,390,581 (GRCm39)	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,241,622 (GRCm39)	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,487,787 (GRCm39)	N77K	probably benign	Het
Crybb3	T	A	5: 113,223,845 (GRCm39)	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,988,805 (GRCm39)	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,986,238 (GRCm39)	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Ech1	A	G	7: 28,531,248 (GRCm39)	I279V	probably benign	Het
Ehbp1	C	A	11: 21,957,170 (GRCm39)	R1173L	probably damaging	Het
Ehd4	T	C	2: 119,967,545 (GRCm39)	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777 (GRCm39)	E544G	probably benign	Het
Esp23	A	G	17: 39,384,795 (GRCm39)	V67A	possibly damaging	Het
Etl4	T	C	2: 20,785,857 (GRCm39)	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,208,470 (GRCm39)	W274*	probably null	Het
Filip1l	T	C	16: 57,390,510 (GRCm39)	I366T	probably benign	Het
Gm4841	T	C	18: 60,404,054 (GRCm39)	D13G	probably benign	Het
Gtpbp2	T	A	17: 46,477,368 (GRCm39)	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,864,795 (GRCm39)	V620L	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Lsm1	A	G	8: 26,292,047 (GRCm39)	E108G	probably benign	Het
Macf1	T	C	4: 123,325,901 (GRCm39)	K5201E	possibly damaging	Het
Matcap2	A	G	9: 22,355,414 (GRCm39)	E483G	probably benign	Het
Mettl25b	C	T	3: 87,835,056 (GRCm39)	V31I	possibly damaging	Het
Mki67	G	T	7: 135,298,245 (GRCm39)	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,330,756 (GRCm39)	G1156S	probably benign	Het
Ncor1	A	T	11: 62,274,070 (GRCm39)	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,522,467 (GRCm39)	V67A	probably damaging	Het
Nuggc	T	C	14: 65,882,478 (GRCm39)	V741A	probably benign	Het
Olfm3	G	T	3: 114,916,206 (GRCm39)	L379F	probably damaging	Het
Or4x13	T	C	2: 90,231,277 (GRCm39)	S91P	probably benign	Het
Or8g21	T	A	9: 38,905,889 (GRCm39)	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,577,853 (GRCm39)	T744A	probably damaging	Het
Plek	T	C	11: 16,933,220 (GRCm39)	T298A	probably benign	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pou6f2	C	T	13: 18,299,991 (GRCm39)	R556H	probably damaging	Het
Pramel58	T	G	5: 94,830,635 (GRCm39)	N44K	probably benign	Het
Rnh1	A	G	7: 140,748,544 (GRCm39)	V11A	probably benign	Het
Slc35f1	T	C	10: 52,984,244 (GRCm39)	F335L	possibly damaging	Het
Srrm2	T	C	17: 24,027,330 (GRCm39)	V22A	unknown	Het
St7	A	T	6: 17,934,220 (GRCm39)	H534L	probably damaging	Het
Swi5	T	A	2: 32,170,463 (GRCm39)		probably benign	Het
Syf2	T	A	4: 134,658,586 (GRCm39)	H40Q	probably benign	Het
Tgtp2	G	A	11: 48,949,721 (GRCm39)	L284F	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Trbc1	A	C	6: 41,516,046 (GRCm39)		probably benign	Het
Trim33	A	T	3: 103,261,145 (GRCm39)	T1115S	probably benign	Het
Ttc22	C	A	4: 106,496,115 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,638,374 (GRCm39)	A13969T	probably damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	T	A	5: 29,795,882 (GRCm39)	D90E	probably benign	Het
Ubr7	T	C	12: 102,724,397 (GRCm39)	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,487,059 (GRCm39)	C535G	probably damaging	Het
Wdr36	A	G	18: 32,992,346 (GRCm39)	T628A	possibly damaging	Het
Whrn	C	T	4: 63,413,047 (GRCm39)	V142M	probably damaging	Het
Wnk2	A	T	13: 49,203,958 (GRCm39)		probably null	Het
Xkr7	C	T	2: 152,896,883 (GRCm39)	T579I	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
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
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
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'- AGCCATTTGGACATTTCTCTGGG -3'
(R):5'- TCAATAAGACTGACAGCCCG -3'

Sequencing Primer
(F):5'- ACATTTCTCTGGGGGATTCCG -3'
(R):5'- ATGGTGGCTCACAACCATCTG -3'

Posted On

2020-09-02