Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Sap130'

220719

Institutional Source

Beutler Lab

Gene Symbol

Sap130

Ensembl Gene

ENSMUSG00000024260

Gene Name

Sin3A associated protein

Synonyms

2610304F09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31767424-31856114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31831627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 706 (S706P)

Ref Sequence

ENSEMBL: ENSMUSP00000136842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025109] [ENSMUST00000178164]

AlphaFold

Q8BIH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025109
AA Change: S705P

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: S705P

Domain	Start	End	E-Value	Type
low complexity region	82	107	N/A	INTRINSIC
low complexity region	115	124	N/A	INTRINSIC
low complexity region	347	356	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
low complexity region	716	748	N/A	INTRINSIC
low complexity region	751	770	N/A	INTRINSIC
low complexity region	817	832	N/A	INTRINSIC
low complexity region	894	904	N/A	INTRINSIC
low complexity region	1044	1056	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178164
AA Change: S706P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: S706P

Domain	Start	End	E-Value	Type
low complexity region	82	107	N/A	INTRINSIC
low complexity region	115	124	N/A	INTRINSIC
low complexity region	347	356	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
Pfam:SAP130_C	635	1040	5.4e-224	PFAM
low complexity region	1045	1057	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly damaging	Het

Other mutations in Sap130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Sap130	APN	18	31,831,819 (GRCm39)	missense	probably benign	0.00
IGL01060:Sap130	APN	18	31,848,496 (GRCm39)	missense	probably damaging	1.00
IGL01668:Sap130	APN	18	31,813,493 (GRCm39)	missense	probably damaging	0.97
IGL01797:Sap130	APN	18	31,831,721 (GRCm39)	missense	probably damaging	0.98
IGL01872:Sap130	APN	18	31,807,473 (GRCm39)	missense	probably damaging	0.98
IGL02010:Sap130	APN	18	31,782,655 (GRCm39)	missense	probably damaging	0.98
Beggar	UTSW	18	31,781,182 (GRCm39)	splice site	probably null
PIT4142001:Sap130	UTSW	18	31,800,064 (GRCm39)	critical splice donor site	probably null
PIT4366001:Sap130	UTSW	18	31,810,462 (GRCm39)	missense	probably benign	0.06
R0083:Sap130	UTSW	18	31,844,694 (GRCm39)	missense	probably damaging	1.00
R0083:Sap130	UTSW	18	31,799,382 (GRCm39)	splice site	probably benign
R0243:Sap130	UTSW	18	31,813,734 (GRCm39)	splice site	probably benign
R0255:Sap130	UTSW	18	31,813,559 (GRCm39)	missense	probably damaging	1.00
R0704:Sap130	UTSW	18	31,786,607 (GRCm39)	missense	probably damaging	0.99
R1069:Sap130	UTSW	18	31,844,682 (GRCm39)	missense	probably damaging	0.96
R1086:Sap130	UTSW	18	31,783,673 (GRCm39)	splice site	probably benign
R1162:Sap130	UTSW	18	31,781,226 (GRCm39)	missense	probably damaging	1.00
R1478:Sap130	UTSW	18	31,813,527 (GRCm39)	missense	possibly damaging	0.95
R1484:Sap130	UTSW	18	31,844,380 (GRCm39)	missense	probably damaging	1.00
R1554:Sap130	UTSW	18	31,799,525 (GRCm39)	missense	probably damaging	0.99
R1625:Sap130	UTSW	18	31,807,517 (GRCm39)	missense	probably damaging	0.99
R1771:Sap130	UTSW	18	31,769,135 (GRCm39)	missense	probably benign	0.10
R1793:Sap130	UTSW	18	31,831,640 (GRCm39)	missense	probably benign	0.10
R1905:Sap130	UTSW	18	31,813,620 (GRCm39)	missense	possibly damaging	0.67
R2074:Sap130	UTSW	18	31,781,332 (GRCm39)	missense	probably damaging	0.99
R2174:Sap130	UTSW	18	31,810,532 (GRCm39)	critical splice donor site	probably null
R3927:Sap130	UTSW	18	31,807,435 (GRCm39)	missense	possibly damaging	0.95
R4454:Sap130	UTSW	18	31,844,413 (GRCm39)	missense	probably damaging	1.00
R4980:Sap130	UTSW	18	31,782,699 (GRCm39)	missense	possibly damaging	0.95
R5222:Sap130	UTSW	18	31,799,756 (GRCm39)	missense	probably damaging	1.00
R5345:Sap130	UTSW	18	31,781,251 (GRCm39)	missense	probably benign	0.32
R5811:Sap130	UTSW	18	31,822,495 (GRCm39)	missense	probably benign	0.01
R6034:Sap130	UTSW	18	31,822,459 (GRCm39)	missense	possibly damaging	0.92
R6034:Sap130	UTSW	18	31,822,459 (GRCm39)	missense	possibly damaging	0.92
R6038:Sap130	UTSW	18	31,813,539 (GRCm39)	missense	probably damaging	0.99
R6038:Sap130	UTSW	18	31,813,539 (GRCm39)	missense	probably damaging	0.99
R6129:Sap130	UTSW	18	31,815,144 (GRCm39)	missense	possibly damaging	0.94
R6431:Sap130	UTSW	18	31,799,418 (GRCm39)	missense	possibly damaging	0.95
R6930:Sap130	UTSW	18	31,815,141 (GRCm39)	missense	possibly damaging	0.94
R6932:Sap130	UTSW	18	31,799,407 (GRCm39)	missense	possibly damaging	0.88
R7454:Sap130	UTSW	18	31,783,565 (GRCm39)	missense	probably benign	0.01
R7510:Sap130	UTSW	18	31,844,268 (GRCm39)	missense	probably damaging	0.99
R7510:Sap130	UTSW	18	31,800,057 (GRCm39)	missense	probably damaging	1.00
R7641:Sap130	UTSW	18	31,786,676 (GRCm39)	missense	probably damaging	0.99
R7870:Sap130	UTSW	18	31,853,714 (GRCm39)	missense	probably benign	0.15
R7980:Sap130	UTSW	18	31,781,182 (GRCm39)	splice site	probably null
R8772:Sap130	UTSW	18	31,813,517 (GRCm39)	missense	probably damaging	1.00
R9135:Sap130	UTSW	18	31,780,116 (GRCm39)	missense	probably benign
R9639:Sap130	UTSW	18	31,844,789 (GRCm39)	critical splice donor site	probably null
X0021:Sap130	UTSW	18	31,780,129 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTATTTCAAAGACCTGAATTCTGAG -3'
(R):5'- TTTGATCTCAGGAACAGGAGG -3'

Sequencing Primer
(F):5'- TGCTTAGCATACTGAAGGCC -3'
(R):5'- ACTGGGGCTGACAGCGTTG -3'

Posted On

2014-08-25