Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Sap130'

554796

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 #

PIT4366001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31767424-31856114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31810462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 470 (A470V)

Ref Sequence

ENSEMBL: ENSMUSP00000025109 (fasta)

Gene Model

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

AlphaFold

Q8BIH0

Predicted Effect

probably benign
Transcript: ENSMUST00000025109
AA Change: A470V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: A470V

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 benign
Transcript: ENSMUST00000178164
AA Change: A470V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: A470V

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: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

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
Aatk	C	A	11: 119,901,786 (GRCm39)	S870I	possibly damaging	Het
Abca13	T	C	11: 9,244,962 (GRCm39)	V2275A	probably benign	Het
Abcb5	T	C	12: 118,899,833 (GRCm39)	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,858,109 (GRCm39)		probably benign	Het
Add3	C	T	19: 53,205,298 (GRCm39)	P16L	unknown	Het
Akap9	T	A	5: 4,096,221 (GRCm39)	D2365E	probably benign	Het
Asah1	A	G	8: 41,796,783 (GRCm39)	S300P	possibly damaging	Het
Astn1	A	T	1: 158,424,779 (GRCm39)	H655L	probably benign	Het
Astn1	A	T	1: 158,424,781 (GRCm39)	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,586,224 (GRCm39)	T13S	probably benign	Het
Camsap2	A	G	1: 136,208,055 (GRCm39)	F478L		Het
Card10	G	A	15: 78,671,631 (GRCm39)	S611L	probably benign	Het
Cep68	T	C	11: 20,190,007 (GRCm39)	N335S	probably benign	Het
Chac1	T	C	2: 119,181,986 (GRCm39)	W35R	probably damaging	Het
Cntn6	T	C	6: 104,809,498 (GRCm39)	V511A	probably benign	Het
Cpne9	G	T	6: 113,271,707 (GRCm39)	G356W	probably damaging	Het
Dnah10	C	A	5: 124,852,588 (GRCm39)	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,573,438 (GRCm39)	N239D	probably benign	Het
Dock5	T	C	14: 68,062,123 (GRCm39)	K415R	possibly damaging	Het
Dtd2	C	A	12: 52,046,582 (GRCm39)	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,473,608 (GRCm39)	F127S	probably damaging	Het
Ermp1	T	C	19: 29,606,189 (GRCm39)	H375R	probably benign	Het
Frem2	A	T	3: 53,560,622 (GRCm39)	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,248,712 (GRCm39)	I325R	probably benign	Het
Gpr179	T	C	11: 97,227,677 (GRCm39)	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,226,214 (GRCm39)	E234V	probably null	Het
Itpr1	T	A	6: 108,470,718 (GRCm39)	C2215*	probably null	Het
Ltn1	G	A	16: 87,177,728 (GRCm39)	R1634*	probably null	Het
Lynx1	A	T	15: 74,623,258 (GRCm39)	M58K	possibly damaging	Het
Macc1	T	C	12: 119,410,684 (GRCm39)	V484A	probably benign	Het
Map3k9	C	T	12: 81,819,535 (GRCm39)	V240M	possibly damaging	Het
Mars1	A	G	10: 127,135,267 (GRCm39)	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,540,826 (GRCm39)	M156V	probably benign	Het
Mchr1	G	T	15: 81,121,417 (GRCm39)	V56L	probably benign	Het
Mlxip	C	T	5: 123,533,173 (GRCm39)	P61S	probably benign	Het
Mtarc1	A	G	1: 184,539,383 (GRCm39)	F96S	probably benign	Het
Muc4	A	G	16: 32,575,542 (GRCm39)	T1557A	unknown	Het
Myt1	T	C	2: 181,467,731 (GRCm39)	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215 (GRCm39)	S76T	probably benign	Het
Ntrk2	A	G	13: 59,208,149 (GRCm39)	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,340,901 (GRCm39)	R215S	unknown	Het
Or10x1	T	C	1: 174,196,656 (GRCm39)	Y58H	probably damaging	Het
Or5m10b	T	C	2: 85,699,226 (GRCm39)	C97R	probably damaging	Het
Or5m8	A	T	2: 85,822,385 (GRCm39)	N75Y	probably damaging	Het
Or5w1b	C	T	2: 87,475,534 (GRCm39)	W311*	probably null	Het
Perm1	G	T	4: 156,303,192 (GRCm39)	V579L	probably benign	Het
Phyhipl	A	G	10: 70,404,788 (GRCm39)	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,144,842 (GRCm39)	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,309,268 (GRCm39)	T213P	probably damaging	Het
Pomt2	A	T	12: 87,163,303 (GRCm39)		probably null	Het
Ptcd1	A	G	5: 145,088,145 (GRCm39)	V622A	probably benign	Het
Ptn	T	A	6: 36,718,284 (GRCm39)	H127L	probably benign	Het
Ptprk	A	T	10: 28,462,015 (GRCm39)	M1193L	probably benign	Het
Ptpru	G	A	4: 131,527,023 (GRCm39)	P650S	probably benign	Het
Pum2	T	A	12: 8,783,390 (GRCm39)	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,582,446 (GRCm39)	T1458A	probably damaging	Het
Sertad2	C	A	11: 20,598,116 (GRCm39)	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,814,414 (GRCm39)	M324L	unknown	Het
Sh3bp4	A	G	1: 89,073,156 (GRCm39)	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653 (GRCm39)	D410E	probably benign	Het
Spata31	C	A	13: 65,069,319 (GRCm39)	S489*	probably null	Het
Taok3	T	A	5: 117,366,050 (GRCm39)	M367K	probably benign	Het
Tfap2a	T	C	13: 40,874,850 (GRCm39)	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,877,867 (GRCm39)	L279F	possibly damaging	Het
Tmpo	A	G	10: 90,999,172 (GRCm39)	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,023,517 (GRCm39)	I218L	probably benign	Het
Tti2	A	G	8: 31,641,224 (GRCm39)	E116G	probably benign	Het
Vmn2r59	A	T	7: 41,695,205 (GRCm39)	N402K	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGTCCTAACAGTAACCATTTAC -3'
(R):5'- GAAGCTAGAATCACAGTCTCCC -3'

Sequencing Primer
(F):5'- GCCTTTGATGCAAGATTTGGACAC -3'
(R):5'- GTCTCCCTTACTGAAATACCAGATC -3'

Posted On

2019-06-07