Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00586:Sin3b'

14020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sin3b

Ensembl Gene

ENSMUSG00000031622

Gene Name

transcriptional regulator, SIN3B (yeast)

Synonyms

2810430C10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00586

Quality Score

Status

Chromosome

Chromosomal Location

73449913-73484829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73483628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1005 (V1005A)

Ref Sequence

ENSEMBL: ENSMUSP00000004494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000058099]

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: V1005A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: V1005A

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: ENSMUST00000058099

SMART Domains

Protein: ENSMUSP00000054426
Gene: ENSMUSG00000050147

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDB:2PV9\|C	51	76	5e-12	PDB
Pfam:7TM_GPCR_Srsx	100	367	4.1e-8	PFAM
Pfam:7tm_1	106	352	7.6e-37	PFAM
low complexity region	369	387	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212755

Coding Region Coverage

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,074,746 (GRCm39)	S76P	probably benign	Het
Asap3	A	C	4: 135,933,879 (GRCm39)	D17A	probably damaging	Het
Ccdc24	C	T	4: 117,729,243 (GRCm39)	R78H	probably damaging	Het
Crp	T	C	1: 172,526,568 (GRCm39)	F218L	probably benign	Het
Dab2	T	C	15: 6,459,306 (GRCm39)	L385P	probably benign	Het
Dip2c	C	A	13: 9,660,791 (GRCm39)	T855N	probably damaging	Het
Dnai7	A	T	6: 145,137,302 (GRCm39)	F269I	possibly damaging	Het
Dync2i1	A	T	12: 116,205,400 (GRCm39)	D396E	probably benign	Het
Ep400	A	G	5: 110,887,460 (GRCm39)	V541A	probably damaging	Het
Gbgt1	A	T	2: 28,392,207 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,195,845 (GRCm39)	D297E	possibly damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Itgb6	T	G	2: 60,450,696 (GRCm39)	D581A	probably benign	Het
Lce1a1	C	T	3: 92,554,470 (GRCm39)	M1I	probably null	Het
Lmbrd2	G	A	15: 9,157,382 (GRCm39)	V207M	probably damaging	Het
Muc5b	T	A	7: 141,395,129 (GRCm39)	V45E	unknown	Het
Mybpc2	A	G	7: 44,154,806 (GRCm39)	V977A	probably damaging	Het
Oas1c	T	C	5: 120,946,744 (GRCm39)	T29A	probably benign	Het
Pdzd2	G	T	15: 12,365,853 (GRCm39)		probably null	Het
Plk2	T	C	13: 110,532,912 (GRCm39)	Y158H	possibly damaging	Het
Prss1l	T	C	6: 41,373,049 (GRCm39)	I107T	probably damaging	Het
Ptprq	A	G	10: 107,443,983 (GRCm39)		probably benign	Het
Rnf17	C	T	14: 56,658,539 (GRCm39)	T76I	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sidt2	A	G	9: 45,854,350 (GRCm39)	V624A	possibly damaging	Het
Ubr4	T	C	4: 139,182,495 (GRCm39)	V358A	possibly damaging	Het
Zfp120	T	C	2: 149,961,748 (GRCm39)	I67V	possibly damaging	Het
Zfp942	A	T	17: 22,147,605 (GRCm39)	H341Q	probably damaging	Het

Other mutations in Sin3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06