Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Rcor3'

698498

Institutional Source

Beutler Lab

Gene Symbol

Rcor3

Ensembl Gene

ENSMUSG00000037395

Gene Name

REST corepressor 3

Synonyms

E130101E15Rik, C730034D20Rik, 4921514E24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

192098546-192138062 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 192101595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 448 (*448R)

Ref Sequence

ENSEMBL: ENSMUSP00000141637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073279] [ENSMUST00000110849] [ENSMUST00000192128] [ENSMUST00000192158] [ENSMUST00000192222] [ENSMUST00000192491] [ENSMUST00000192866]

AlphaFold

Q6PGA0

Predicted Effect

probably benign
Transcript: ENSMUST00000073279

SMART Domains

Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	3.89e-14	SMART
SANT	141	189	4.56e-8	SMART
low complexity region	349	363	N/A	INTRINSIC
low complexity region	370	384	N/A	INTRINSIC
low complexity region	398	414	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110849

SMART Domains

Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	3.89e-14	SMART
SANT	141	189	4.56e-8	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	397	413	N/A	INTRINSIC
low complexity region	418	433	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000192128
AA Change: *448R

SMART Domains

Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: *448R

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC
SANT	342	390	7.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192158

SMART Domains

Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	98	6.6e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192222

Predicted Effect

probably benign
Transcript: ENSMUST00000192491

SMART Domains

Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192866

SMART Domains

Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC
SANT	342	390	7.5e-13	SMART
low complexity region	449	463	N/A	INTRINSIC
low complexity region	470	484	N/A	INTRINSIC
low complexity region	498	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194750

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	Het

Other mutations in Rcor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Rcor3	APN	1	192127971	unclassified	probably benign
IGL01688:Rcor3	APN	1	192123600	missense	probably damaging	1.00
IGL01905:Rcor3	APN	1	192101002	missense	probably damaging	1.00
R0523:Rcor3	UTSW	1	192130436	missense	probably damaging	1.00
R1305:Rcor3	UTSW	1	192116346	missense	possibly damaging	0.50
R1847:Rcor3	UTSW	1	192100833	missense	possibly damaging	0.83
R1850:Rcor3	UTSW	1	192120111	missense	probably benign
R3938:Rcor3	UTSW	1	192101085	missense	possibly damaging	0.92
R4403:Rcor3	UTSW	1	192119912	splice site	probably null
R4590:Rcor3	UTSW	1	192125917	missense	probably damaging	1.00
R4750:Rcor3	UTSW	1	192130449	missense	unknown
R5219:Rcor3	UTSW	1	192137513	utr 5 prime	probably benign
R5617:Rcor3	UTSW	1	192120130	missense	probably benign	0.09
R6059:Rcor3	UTSW	1	192119940	missense	probably benign	0.21
R6156:Rcor3	UTSW	1	192127842	unclassified	probably benign
R6250:Rcor3	UTSW	1	192100896	missense	probably damaging	1.00
R6258:Rcor3	UTSW	1	192124259	missense	probably benign	0.27
R6260:Rcor3	UTSW	1	192124259	missense	probably benign	0.27
R6808:Rcor3	UTSW	1	192137882	missense	possibly damaging	0.79
R7194:Rcor3	UTSW	1	192125961	missense	possibly damaging	0.88
R7387:Rcor3	UTSW	1	192137524	start gained	probably benign
R7402:Rcor3	UTSW	1	192127983	missense	probably benign	0.00
R7407:Rcor3	UTSW	1	192101672	missense	probably benign
R7432:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7451:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7452:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7570:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7571:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7572:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7718:Rcor3	UTSW	1	192101721	missense	probably benign	0.00
R7729:Rcor3	UTSW	1	192101778	missense	probably damaging	1.00
R7994:Rcor3	UTSW	1	192101645	missense	probably damaging	1.00
R8221:Rcor3	UTSW	1	192130449	missense	unknown
R9077:Rcor3	UTSW	1	192123565	missense	probably damaging	0.97
R9157:Rcor3	UTSW	1	192125881	missense	possibly damaging	0.63
R9313:Rcor3	UTSW	1	192125881	missense	possibly damaging	0.63
R9443:Rcor3	UTSW	1	192101750	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTTTATTGGAAGCACAGGC -3'
(R):5'- ACAGGCGTCGGTTTAACTTAG -3'

Sequencing Primer
(F):5'- GGCTACCAAACAGACATCTTTATTAG -3'
(R):5'- AGGCGTCGGTTTAACTTAGAGGAG -3'

Posted On

2022-02-07