Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Sin3b'

33928

Institutional Source

Beutler Lab

Gene Symbol

Sin3b

Ensembl Gene

ENSMUSG00000031622

Gene Name

transcriptional regulator, SIN3B (yeast)

Synonyms

2810430C10Rik

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73449913-73484829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73471136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 361 (E361V)

Ref Sequence

ENSEMBL: ENSMUSP00000004494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000109950] [ENSMUST00000212095]

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: E361V

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: E361V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109950

SMART Domains

Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:PAH	53	97	3.4e-20	PFAM
Pfam:PAH	173	227	5.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213079

Meta Mutation Damage Score

0.3465

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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
1700129C05Rik	G	T	14: 59,379,569 (GRCm39)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,451,544 (GRCm39)	E876V	possibly damaging	Het
Aasdh	A	T	5: 77,049,849 (GRCm39)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,847,844 (GRCm39)		probably null	Het
Ablim1	A	T	19: 57,032,302 (GRCm39)	L556Q	probably damaging	Het
Afdn	A	G	17: 14,119,408 (GRCm39)	T1700A	probably benign	Het
Agl	G	A	3: 116,545,720 (GRCm39)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,113,863 (GRCm39)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,586 (GRCm39)	C180*	probably null	Het
Aim2	A	G	1: 173,289,899 (GRCm39)		probably benign	Het
Angpt1	T	C	15: 42,331,631 (GRCm39)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,225,727 (GRCm39)		probably null	Het
Ap1g1	C	T	8: 110,581,694 (GRCm39)	S654L	probably benign	Het
Bpifa1	T	A	2: 153,987,977 (GRCm39)	S173R	probably benign	Het
Brd8	T	C	18: 34,736,947 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,381,670 (GRCm39)	T161A	probably benign	Het
Car6	T	C	4: 150,271,965 (GRCm39)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,557,559 (GRCm39)	L273P	probably damaging	Het
Cit	G	A	5: 116,122,899 (GRCm39)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,169,638 (GRCm39)	L48P	probably damaging	Het
Cttn	A	G	7: 143,995,589 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,743,619 (GRCm39)		probably benign	Het
Dtnbp1	A	G	13: 45,076,669 (GRCm39)	L175P	probably damaging	Het
Efl1	T	C	7: 82,342,219 (GRCm39)		probably benign	Het
Fbn1	C	T	2: 125,162,830 (GRCm39)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,751,061 (GRCm39)	S665T	probably benign	Het
Gm9843	A	T	16: 76,200,449 (GRCm39)		noncoding transcript	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm39)		probably benign	Het
Hdgfl1	A	T	13: 26,953,979 (GRCm39)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,425,443 (GRCm39)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,005,456 (GRCm39)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,686,039 (GRCm39)	V168G	probably damaging	Het
Itch	T	C	2: 155,041,314 (GRCm39)	I454T	probably benign	Het
Itih2	T	C	2: 10,120,110 (GRCm39)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,819,935 (GRCm39)	I304V	probably benign	Het
Kcnh1	G	A	1: 191,959,112 (GRCm39)	W222*	probably null	Het
Kcnh1	G	T	1: 191,959,113 (GRCm39)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm39)	K287*	probably null	Het
Lrig3	A	G	10: 125,807,986 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,367,907 (GRCm39)	C202S	probably null	Het
Lrrc37	A	T	11: 103,494,067 (GRCm39)	F663L	probably benign	Het
Lrrn2	A	G	1: 132,865,558 (GRCm39)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,852,880 (GRCm39)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,791,790 (GRCm39)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,697,849 (GRCm39)		probably benign	Het
Mgat4e	A	G	1: 134,468,841 (GRCm39)	V401A	probably benign	Het
Mllt3	C	A	4: 87,758,969 (GRCm39)	V360L	probably benign	Het
Mrm1	G	A	11: 84,709,996 (GRCm39)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,788,558 (GRCm39)		probably benign	Het
Myo3b	A	G	2: 70,047,510 (GRCm39)	T311A	probably benign	Het
Myo5b	T	C	18: 74,875,251 (GRCm39)	F1552L	probably benign	Het
Myo7b	C	T	18: 32,105,949 (GRCm39)	V1353I	probably benign	Het
Myo9b	T	C	8: 71,806,476 (GRCm39)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,329,988 (GRCm39)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,685,641 (GRCm39)	S703P	probably damaging	Het
Pclo	T	C	5: 14,815,237 (GRCm39)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,206,032 (GRCm39)		probably benign	Het
Pfkl	T	C	10: 77,828,368 (GRCm39)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,390,180 (GRCm39)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,332,692 (GRCm39)	T106S	probably benign	Het
Prrc1	A	G	18: 57,496,363 (GRCm39)	M105V	probably benign	Het
Psg26	A	G	7: 18,217,883 (GRCm39)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,622,263 (GRCm39)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,787,442 (GRCm39)	K977R	probably damaging	Het
Sart1	C	T	19: 5,431,150 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,998,167 (GRCm39)	S509G	probably benign	Het
Slc35e3	C	T	10: 117,576,795 (GRCm39)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,728,215 (GRCm39)	S388P	probably damaging	Het
Srms	A	G	2: 180,854,175 (GRCm39)	S131P	probably benign	Het
Sting1	A	T	18: 35,872,141 (GRCm39)	F120L	probably benign	Het
Stxbp5	T	C	10: 9,742,442 (GRCm39)		probably benign	Het
Taar2	T	C	10: 23,816,961 (GRCm39)	V167A	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,899 (GRCm39)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,544,513 (GRCm39)		probably benign	Het
Tnfaip3	T	C	10: 18,878,495 (GRCm39)	K771R	probably damaging	Het
Treml1	C	T	17: 48,667,486 (GRCm39)	L124F	probably damaging	Het
Ttn	G	T	2: 76,611,141 (GRCm39)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,449,685 (GRCm39)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,402,508 (GRCm39)	V248L	possibly damaging	Het
Vps35	T	C	8: 86,000,204 (GRCm39)	Q474R	probably damaging	Het
Wdr17	T	A	8: 55,116,043 (GRCm39)	T580S	probably benign	Het
Xpnpep1	T	C	19: 52,998,583 (GRCm39)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,096,511 (GRCm39)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,414,161 (GRCm39)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,393,188 (GRCm39)	K57M	probably damaging	Het
Zmpste24	A	T	4: 120,938,406 (GRCm39)	S244R	probably benign	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
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
R8924:Sin3b	UTSW	8	73,473,131 (GRCm39)	missense	probably benign	0.05
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'- GAGACGCACAGAGGTTATTCCCAG -3'
(R):5'- TTGCAAATGGCAGTCCTTCCGC -3'

Sequencing Primer
(F):5'- TATTGGTGAGAGAGAAACCTCCTC -3'
(R):5'- CTGCACTTGGGCTGCTG -3'

Posted On

2013-05-09