Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Sap130'

53141

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

31767424-31856114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31848496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 967 (L967P)

Ref Sequence

ENSEMBL: ENSMUSP00000136842 (fasta)

Gene Model

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

AlphaFold

Q8BIH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025109
AA Change: L966P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: L966P

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

probably damaging
Transcript: ENSMUST00000178164
AA Change: L967P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: L967P

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccdc78	A	G	17: 26,007,806 (GRCm39)	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Elp1	C	T	4: 56,784,537 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Fam120c	C	T	X: 150,252,583 (GRCm39)	P1045S	probably benign	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Map3k6	G	T	4: 132,974,613 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,404,802 (GRCm39)	V114E	probably damaging	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably 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
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
R2026:Sap130	UTSW	18	31,831,627 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2013-06-21