Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Sap130'

486997

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 #

PIT4142001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31767424-31856114 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31800064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136842 (fasta)

Gene Model

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

AlphaFold

Q8BIH0

Predicted Effect

probably null
Transcript: ENSMUST00000025109

SMART Domains

Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260

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 null
Transcript: ENSMUST00000178164

SMART Domains

Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260

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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,797,626 (GRCm39)	R168H	possibly damaging	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,555,134 (GRCm39)	S29T	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Trp63	C	T	16: 25,684,013 (GRCm39)	T300I	probably damaging	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCCCAAGAACTTTCCCAAGG -3'
(R):5'- GCTAAGCTACAGCCAGTGATTTC -3'

Sequencing Primer
(F):5'- CCCAAGGTTTTTAAAGTCTGTACCG -3'
(R):5'- CGAGCAAATTCCTAGGGCTTACTG -3'

Posted On

2017-09-21