Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Sin3b'

679475

Institutional Source

Beutler Lab

Gene Symbol

Sin3b

Ensembl Gene

ENSMUSG00000031622

Gene Name

transcriptional regulator, SIN3B (yeast)

Synonyms

2810430C10Rik

MMRRC Submission

068769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73449913-73484829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73473131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 484 (K484E)

Ref Sequence

ENSEMBL: ENSMUSP00000004494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004494]

AlphaFold

Q62141

PDB Structure

STRUCTURE OF THE COMPLEX OF THE MAD1-SIN3B INTERACTION DOMAINS [SOLUTION NMR]
Extended SID of Mad1 bound to the PAH2 domain of mSin3B [SOLUTION NMR]
Solution structure of the first PAH domain of the mouse transcriptional repressor SIN3B [SOLUTION NMR]
Solution structure of the NRSF/REST-mSin3B PAH1 complex [SOLUTION NMR]
Solution structure of free PAH2 domain of mSin3B [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000004494
AA Change: K484E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: K484E

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:PAH	53	97	2.5e-19	PFAM
Pfam:PAH	173	227	4.4e-20	PFAM
Pfam:PAH	313	357	1.6e-8	PFAM
HDAC_interact	384	484	2.75e-58	SMART
low complexity region	667	688	N/A	INTRINSIC
Pfam:Sin3a_C	712	1011	7.2e-81	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

MGI Phenotype

PHENOTYPE: Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(3)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,838,003 (GRCm39)	V1145A	probably benign	Het
Ank1	T	C	8: 23,589,011 (GRCm39)	M562T	probably benign	Het
Atn1	A	T	6: 124,722,211 (GRCm39)	S881T	probably benign	Het
B3galt1	C	T	2: 67,949,059 (GRCm39)	T258I	probably benign	Het
Bahcc1	C	T	11: 120,167,591 (GRCm39)	L1331F	probably benign	Het
Capn12	G	A	7: 28,582,628 (GRCm39)	V168M	probably damaging	Het
Card14	T	C	11: 119,216,930 (GRCm39)	V338A	possibly damaging	Het
Cd27	T	C	6: 125,213,432 (GRCm39)		probably benign	Het
Cd37	A	G	7: 44,888,109 (GRCm39)	L37P	probably damaging	Het
Cd96	A	G	16: 45,919,385 (GRCm39)	L212P	probably damaging	Het
Celsr1	T	C	15: 85,916,671 (GRCm39)	E434G	possibly damaging	Het
Cep152	A	G	2: 125,444,778 (GRCm39)	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,811,619 (GRCm39)	R45H	probably benign	Het
Cfap54	T	G	10: 92,837,685 (GRCm39)	T1072P	probably damaging	Het
Chodl	A	T	16: 78,738,659 (GRCm39)	M172L	possibly damaging	Het
Cilp2	A	G	8: 70,339,108 (GRCm39)	S47P	probably damaging	Het
Clasrp	T	C	7: 19,318,232 (GRCm39)	I596V	unknown	Het
Clcn2	C	T	16: 20,530,930 (GRCm39)	V267I	probably damaging	Het
Cntln	T	A	4: 84,806,936 (GRCm39)	D139E	probably damaging	Het
Cyp2j12	A	C	4: 95,994,685 (GRCm39)	N379K	probably damaging	Het
Defb21	T	C	2: 152,416,704 (GRCm39)	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,494,018 (GRCm39)	S543*	probably null	Het
Efcab12	G	T	6: 115,800,664 (GRCm39)	H120N	probably benign	Het
Efcab3	AACTCTA	AA	11: 104,806,253 (GRCm39)		probably null	Het
Efl1	G	A	7: 82,412,161 (GRCm39)	G850D	probably benign	Het
Efna1	T	C	3: 89,183,635 (GRCm39)	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,870,003 (GRCm39)	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,258,513 (GRCm39)	F621Y	probably damaging	Het
Erbin	C	A	13: 103,975,966 (GRCm39)	E643*	probably null	Het
Esr1	G	A	10: 4,807,176 (GRCm39)	W364*	probably null	Het
Fam171a2	T	C	11: 102,330,861 (GRCm39)	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 22,451,429 (GRCm39)	F97L	probably benign	Het
Fap	A	T	2: 62,378,165 (GRCm39)	F181I	probably benign	Het
Fem1b	T	C	9: 62,704,916 (GRCm39)	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,868,653 (GRCm39)	A295S	probably benign	Het
Galnt10	G	A	11: 57,674,681 (GRCm39)		probably benign	Het
Gcfc2	T	C	6: 81,909,879 (GRCm39)	V224A	probably damaging	Het
Gh	T	C	11: 106,191,634 (GRCm39)	E136G	probably damaging	Het
Gjd3	C	T	11: 98,873,325 (GRCm39)	C173Y	probably damaging	Het
Gm12695	T	A	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gnas	A	G	2: 174,141,277 (GRCm39)	E482G	unknown	Het
Gpa33	T	C	1: 165,980,351 (GRCm39)	L138P	probably damaging	Het
Hlf	T	C	11: 90,236,714 (GRCm39)	D181G	probably damaging	Het
Irgm1	A	G	11: 48,756,698 (GRCm39)	L387S	probably benign	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Klra2	T	C	6: 131,205,214 (GRCm39)	E209G	probably benign	Het
Klra3	C	T	6: 130,312,732 (GRCm39)	V11M	probably benign	Het
Klrh1	G	T	6: 129,745,084 (GRCm39)	H171N	probably benign	Het
Kmt2c	T	C	5: 25,503,885 (GRCm39)	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,408,888 (GRCm39)	S79R	probably benign	Het
Limch1	T	A	5: 67,190,475 (GRCm39)	H759Q	probably benign	Het
Map3k4	A	G	17: 12,490,433 (GRCm39)	Y333H	probably benign	Het
Mmel1	A	G	4: 154,974,091 (GRCm39)	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,281,113 (GRCm39)	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,801,675 (GRCm39)	S1277G	probably benign	Het
Nab1	T	C	1: 52,529,667 (GRCm39)	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,482,841 (GRCm39)	S10G	probably benign	Het
Odc1	A	G	12: 17,598,329 (GRCm39)	T157A	possibly damaging	Het
Or2a5	T	G	6: 42,873,964 (GRCm39)	L193R	probably damaging	Het
Or8b52	T	C	9: 38,576,780 (GRCm39)	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plpp1	T	A	13: 112,943,057 (GRCm39)		probably benign	Het
Prdm13	G	A	4: 21,679,125 (GRCm39)	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,739,101 (GRCm39)	Y2289F	probably damaging	Het
Ptpn18	G	T	1: 34,498,966 (GRCm39)	R21L	probably benign	Het
Ptprd	A	G	4: 75,916,736 (GRCm39)		probably null	Het
Rcn3	G	T	7: 44,733,095 (GRCm39)	D258E	probably damaging	Het
Ro60	C	T	1: 143,641,170 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,895 (GRCm39)	H651Q	probably benign	Het
Sacs	T	C	14: 61,448,702 (GRCm39)	S3583P	probably damaging	Het
Scel	A	G	14: 103,829,807 (GRCm39)	N463S	possibly damaging	Het
Serpinb2	A	T	1: 107,443,284 (GRCm39)	I28F	possibly damaging	Het
Snrnp48	T	A	13: 38,400,397 (GRCm39)	V168D	probably damaging	Het
Snx18	T	G	13: 113,754,931 (GRCm39)	M1L	probably benign	Het
Spata31h1	T	C	10: 82,131,295 (GRCm39)	N572D	probably benign	Het
Srcap	T	A	7: 127,158,204 (GRCm39)	N2693K	unknown	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Stip1	A	T	19: 7,002,687 (GRCm39)	L414H	probably damaging	Het
Sun1	A	G	5: 139,209,390 (GRCm39)	H40R	probably damaging	Het
Sva	T	A	6: 42,019,182 (GRCm39)	D117E	possibly damaging	Het
Syne2	A	G	12: 75,943,444 (GRCm39)	D321G	probably damaging	Het
Trim45	A	G	3: 100,835,394 (GRCm39)	D459G	probably damaging	Het
Ttc6	G	A	12: 57,697,790 (GRCm39)	W43*	probably null	Het
Ugt2b35	A	G	5: 87,152,780 (GRCm39)	T317A	possibly damaging	Het
Usp32	C	T	11: 84,916,370 (GRCm39)	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,334,752 (GRCm39)	Q303K	probably benign	Het
Yeats2	T	C	16: 19,969,312 (GRCm39)		probably null	Het
Zfp804a	A	G	2: 82,088,747 (GRCm39)	N859D	probably benign	Het
Zscan10	A	T	17: 23,824,580 (GRCm39)	Q12L	possibly damaging	Het

Other mutations in Sin3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Sin3b	APN	8	73,483,628 (GRCm39)	missense	probably benign	0.22
IGL01107:Sin3b	APN	8	73,457,733 (GRCm39)	missense	possibly damaging	0.74
IGL01114:Sin3b	APN	8	73,471,133 (GRCm39)	missense	probably benign	0.06
IGL01603:Sin3b	APN	8	73,476,692 (GRCm39)	missense	probably damaging	1.00
IGL01763:Sin3b	APN	8	73,473,236 (GRCm39)	missense	probably damaging	1.00
IGL02078:Sin3b	APN	8	73,480,208 (GRCm39)	missense	possibly damaging	0.49
IGL02572:Sin3b	APN	8	73,471,109 (GRCm39)	missense	probably benign	0.15
IGL02732:Sin3b	APN	8	73,460,081 (GRCm39)	missense	possibly damaging	0.72
IGL02831:Sin3b	APN	8	73,471,190 (GRCm39)	missense	probably damaging	1.00
IGL03064:Sin3b	APN	8	73,483,686 (GRCm39)	unclassified	probably benign
IGL03107:Sin3b	APN	8	73,480,213 (GRCm39)	missense	probably damaging	0.99
IGL03142:Sin3b	APN	8	73,471,196 (GRCm39)	missense	probably damaging	1.00
3-1:Sin3b	UTSW	8	73,479,837 (GRCm39)	missense	possibly damaging	0.95
R0070:Sin3b	UTSW	8	73,452,210 (GRCm39)	missense	probably damaging	1.00
R0070:Sin3b	UTSW	8	73,452,210 (GRCm39)	missense	probably damaging	1.00
R0226:Sin3b	UTSW	8	73,471,136 (GRCm39)	missense	probably benign	0.44
R0629:Sin3b	UTSW	8	73,480,164 (GRCm39)	splice site	probably benign
R1486:Sin3b	UTSW	8	73,477,141 (GRCm39)	missense	probably benign	0.00
R1524:Sin3b	UTSW	8	73,479,915 (GRCm39)	missense	probably benign	0.05
R1653:Sin3b	UTSW	8	73,468,147 (GRCm39)	missense	probably benign	0.30
R2144:Sin3b	UTSW	8	73,457,893 (GRCm39)	missense	probably damaging	1.00
R2180:Sin3b	UTSW	8	73,479,923 (GRCm39)	nonsense	probably null
R2271:Sin3b	UTSW	8	73,460,047 (GRCm39)	missense	probably benign	0.11
R2353:Sin3b	UTSW	8	73,450,780 (GRCm39)	critical splice donor site	probably null
R3945:Sin3b	UTSW	8	73,460,067 (GRCm39)	missense	possibly damaging	0.88
R4412:Sin3b	UTSW	8	73,466,407 (GRCm39)	missense	probably benign	0.16
R4564:Sin3b	UTSW	8	73,480,209 (GRCm39)	missense	probably damaging	1.00
R4782:Sin3b	UTSW	8	73,452,271 (GRCm39)	missense	probably benign	0.04
R4799:Sin3b	UTSW	8	73,452,271 (GRCm39)	missense	probably benign	0.04
R4863:Sin3b	UTSW	8	73,471,576 (GRCm39)	missense	possibly damaging	0.91
R5011:Sin3b	UTSW	8	73,471,184 (GRCm39)	missense	probably benign	0.39
R5237:Sin3b	UTSW	8	73,459,971 (GRCm39)	critical splice acceptor site	probably null
R5325:Sin3b	UTSW	8	73,477,154 (GRCm39)	missense	probably damaging	1.00
R5725:Sin3b	UTSW	8	73,452,320 (GRCm39)	critical splice donor site	probably null
R5927:Sin3b	UTSW	8	73,476,506 (GRCm39)	missense	probably benign	0.00
R5945:Sin3b	UTSW	8	73,457,793 (GRCm39)	missense	probably damaging	0.97
R6492:Sin3b	UTSW	8	73,460,118 (GRCm39)	critical splice donor site	probably null
R7092:Sin3b	UTSW	8	73,474,498 (GRCm39)	critical splice donor site	probably null
R7106:Sin3b	UTSW	8	73,450,765 (GRCm39)	missense	possibly damaging	0.90
R7258:Sin3b	UTSW	8	73,476,836 (GRCm39)	missense	probably benign	0.00
R7472:Sin3b	UTSW	8	73,479,853 (GRCm39)	missense	probably damaging	1.00
R7475:Sin3b	UTSW	8	73,476,500 (GRCm39)	missense	possibly damaging	0.47
R7491:Sin3b	UTSW	8	73,473,069 (GRCm39)	missense	probably damaging	1.00
R7636:Sin3b	UTSW	8	73,474,362 (GRCm39)	nonsense	probably null
R8063:Sin3b	UTSW	8	73,452,169 (GRCm39)	missense	probably damaging	1.00
R8354:Sin3b	UTSW	8	73,468,108 (GRCm39)	missense	probably benign
R8454:Sin3b	UTSW	8	73,468,108 (GRCm39)	missense	probably benign
R8711:Sin3b	UTSW	8	73,450,026 (GRCm39)	missense	probably damaging	0.97
R8719:Sin3b	UTSW	8	73,450,139 (GRCm39)	missense	unknown
R8807:Sin3b	UTSW	8	73,476,708 (GRCm39)	missense	probably benign	0.00
R8857:Sin3b	UTSW	8	73,483,523 (GRCm39)	missense	probably benign
R9035:Sin3b	UTSW	8	73,450,092 (GRCm39)	missense	unknown
R9127:Sin3b	UTSW	8	73,460,034 (GRCm39)	missense	possibly damaging	0.70
R9272:Sin3b	UTSW	8	73,471,168 (GRCm39)	missense	probably benign	0.02
R9455:Sin3b	UTSW	8	73,450,681 (GRCm39)	missense	possibly damaging	0.56
R9641:Sin3b	UTSW	8	73,477,187 (GRCm39)	missense	probably damaging	1.00
X0017:Sin3b	UTSW	8	73,457,793 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTGGAACACTGCTCCTTCC -3'
(R):5'- TCTCCCGAATCATGGACAGG -3'

Sequencing Primer
(F):5'- CAGGTGTGCTCTGGTAGACAAC -3'
(R):5'- CTCCCGAATCATGGACAGGAGTAG -3'

Posted On

2021-08-02