Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01763:Sin3b'

153611

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 #

IGL01763

Quality Score

Status

Chromosome

Chromosomal Location

73449913-73484829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73473236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 519 (K519E)

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 damaging
Transcript: ENSMUST00000004494
AA Change: K519E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: K519E

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

noncoding transcript
Transcript: ENSMUST00000212435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213079

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	C	T	7: 97,915,339 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,414,943 (GRCm39)	E244G	probably benign	Het
Cdh20	T	C	1: 109,993,520 (GRCm39)	I325T	probably benign	Het
Dennd2c	T	C	3: 103,064,224 (GRCm39)	L623P	probably damaging	Het
Eef1akmt3	T	C	10: 126,876,952 (GRCm39)	D65G	probably benign	Het
Gimap3	T	A	6: 48,742,430 (GRCm39)	S167C	probably damaging	Het
Gm12185	A	T	11: 48,806,671 (GRCm39)	F173L	probably benign	Het
Gm5611	A	G	9: 16,941,699 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,144,820 (GRCm39)	S387P	probably benign	Het
Hsd17b8	A	G	17: 34,245,835 (GRCm39)	V219A	probably damaging	Het
Mtfr2	G	A	10: 20,228,683 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,177,245 (GRCm39)	K437R	probably benign	Het
Myo15a	A	G	11: 60,412,564 (GRCm39)	D3335G	probably benign	Het
Ndufaf7	C	T	17: 79,253,771 (GRCm39)	T323I	possibly damaging	Het
Or5g29	A	G	2: 85,421,691 (GRCm39)	N269S	probably benign	Het
Pcdh15	T	C	10: 74,046,293 (GRCm39)	V190A	probably benign	Het
Pdzd2	A	G	15: 12,372,632 (GRCm39)	V2501A	probably benign	Het
Piwil4	A	T	9: 14,617,562 (GRCm39)		probably null	Het
Plxnb2	C	T	15: 89,046,184 (GRCm39)		probably null	Het
Sgcd	A	G	11: 47,085,856 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Spty2d1	T	C	7: 46,649,596 (GRCm39)	D33G	probably damaging	Het
Txnrd3	C	T	6: 89,638,537 (GRCm39)	T242I	probably damaging	Het
Vps13b	A	G	15: 35,709,945 (GRCm39)	D1964G	possibly damaging	Het
Wdr24	A	G	17: 26,045,164 (GRCm39)	T300A	probably benign	Het
Zc2hc1c	C	A	12: 85,336,450 (GRCm39)	Q36K	probably benign	Het
Zfp719	A	T	7: 43,233,613 (GRCm39)	I11F	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
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

2014-02-04