Mutagenetix > Incidental Mutations

Incidental Mutation 'R7428:Sap30'

576250

Institutional Source

Beutler Lab

Gene Symbol

Sap30

Ensembl Gene

ENSMUSG00000031609

Gene Name

sin3 associated polypeptide

Synonyms

30kDa

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57482707-57487860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57487512 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 19 (V19M)

Ref Sequence

ENSEMBL: ENSMUSP00000034022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034022]

PDB Structure

Solution structure of the mSin3A PAH3-SAP30 SID complex [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034022
AA Change: V19M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034022
Gene: ENSMUSG00000031609
AA Change: V19M

Domain	Start	End	E-Value	Type
Pfam:zf-SAP30	63	133	3e-39	PFAM
Pfam:SAP30_Sin3_bdg	153	205	1.1e-25	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,092,509	Y63F	probably benign	Het
Atl2	T	C	17: 79,875,798		probably null	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cep295	A	G	9: 15,333,498	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,894,619	S1842G	probably benign	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Creb5	C	A	6: 53,681,158	Q158K	unknown	Het
Crtam	G	C	9: 40,981,182	A266G	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Ddit4l	A	G	3: 137,626,170	E99G	probably damaging	Het
Dmbt1	A	T	7: 131,108,463	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Leng8	C	T	7: 4,143,573	R395W	probably damaging	Het
Mocs2	A	G	13: 114,820,864	I6V	probably benign	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Myh13	A	G	11: 67,332,564	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup205	T	A	6: 35,227,559	I1460N	probably damaging	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Otof	G	T	5: 30,389,825	D383E	probably damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Pclo	A	T	5: 14,750,517	I1179F		Het
Pde6c	T	C	19: 38,157,536		probably null	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Prkg1	T	C	19: 30,578,835	I585M	probably damaging	Het
Prom2	A	G	2: 127,539,811	L195P	probably damaging	Het
Ptprd	G	A	4: 76,086,468	P17S	probably benign	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Scrib	G	A	15: 76,061,198	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,298,898	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,837,520	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Taar8c	A	C	10: 24,101,548	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965	P24S	probably benign	Het
Tex36	T	C	7: 133,595,137		probably null	Het
Tmem145	T	C	7: 25,307,165		probably null	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Vars2	A	T	17: 35,666,686	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,278,852	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wnt9b	T	C	11: 103,730,817	Q338R	probably benign	Het
Zfp128	A	G	7: 12,890,362	D219G	probably benign	Het
Zfp541	A	T	7: 16,092,868	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,463,934	G190S	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	probably damaging	Het

Other mutations in Sap30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Sap30	APN	8	57485089	missense	possibly damaging	0.95
IGL03294:Sap30	APN	8	57487301	missense	probably damaging	0.98
E0374:Sap30	UTSW	8	57485061	missense	probably damaging	1.00
R0125:Sap30	UTSW	8	57485511	missense	probably null	0.99
R0570:Sap30	UTSW	8	57482966	missense	possibly damaging	0.95
R1905:Sap30	UTSW	8	57487311	missense	probably damaging	0.99
R2056:Sap30	UTSW	8	57487248	splice site	probably null
R2201:Sap30	UTSW	8	57485472	splice site	probably null
R6234:Sap30	UTSW	8	57485118	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCTTTTGCTGAAGCTGGC -3'
(R):5'- CACAGGACCTGGTAGCTATTCC -3'

Sequencing Primer
(F):5'- GCTGAAGCTGGCGTTGC -3'
(R):5'- TATTCCAGCACCGACAGACCG -3'

Posted On

2019-10-07