Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Sin3a'

172031

Institutional Source

Beutler Lab

Gene Symbol

Sin3a

Ensembl Gene

ENSMUSG00000042557

Gene Name

transcriptional regulator, SIN3A (yeast)

Synonyms

Sin3, mSin3A

MMRRC Submission

039583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56979324-57035650 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 57011281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049169] [ENSMUST00000167715] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678]

AlphaFold

Q60520

Predicted Effect

probably benign
Transcript: ENSMUST00000049169

SMART Domains

Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
Pfam:PAH	141	187	1.4e-19	PFAM
low complexity region	217	248	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC
Pfam:PAH	322	381	1.8e-23	PFAM
Pfam:PAH	478	524	4e-16	PFAM
HDAC_interact	551	651	3.31e-61	SMART
low complexity region	834	847	N/A	INTRINSIC
low complexity region	915	930	N/A	INTRINSIC
low complexity region	1135	1151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125333

Predicted Effect

probably benign
Transcript: ENSMUST00000167715

SMART Domains

Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
Pfam:PAH	141	187	1.4e-19	PFAM
low complexity region	217	248	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC
Pfam:PAH	322	381	1.8e-23	PFAM
Pfam:PAH	478	524	4e-16	PFAM
HDAC_interact	551	651	3.31e-61	SMART
low complexity region	834	847	N/A	INTRINSIC
low complexity region	915	930	N/A	INTRINSIC
low complexity region	1135	1151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168177

SMART Domains

Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
Pfam:PAH	142	186	5.3e-22	PFAM
low complexity region	217	248	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC
Pfam:PAH	323	380	9.6e-22	PFAM
Pfam:PAH	479	523	8.1e-11	PFAM
HDAC_interact	551	651	3.31e-61	SMART
low complexity region	834	847	N/A	INTRINSIC
Pfam:Sin3a_C	887	1190	1.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168502

SMART Domains

Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
Pfam:PAH	141	187	1.4e-19	PFAM
low complexity region	217	248	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC
Pfam:PAH	322	381	1.8e-23	PFAM
Pfam:PAH	478	524	4e-16	PFAM
HDAC_interact	551	651	3.31e-61	SMART
low complexity region	834	847	N/A	INTRINSIC
low complexity region	915	930	N/A	INTRINSIC
low complexity region	1138	1154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168678

SMART Domains

Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557

Domain	Start	End	E-Value	Type
low complexity region	98	119	N/A	INTRINSIC
Pfam:PAH	141	187	1.4e-19	PFAM
low complexity region	217	248	N/A	INTRINSIC
low complexity region	267	282	N/A	INTRINSIC
Pfam:PAH	322	381	1.8e-23	PFAM
Pfam:PAH	478	524	4e-16	PFAM
HDAC_interact	551	651	3.31e-61	SMART
low complexity region	834	847	N/A	INTRINSIC
low complexity region	915	930	N/A	INTRINSIC
low complexity region	1135	1151	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in early embryonic lethality. Homozygous null MEFs display poor cell proliferation, reduced S-phase and increased G2/M fractions, a block in DNA replication, and enhanced apoptosis; however, no increase in chromosomal instability is observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,543 (GRCm39)	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,187,105 (GRCm39)		probably benign	Het
A730018C14Rik	A	G	12: 112,381,924 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,593,394 (GRCm39)	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,221,694 (GRCm39)	V227I	probably benign	Het
Abcd3	T	C	3: 121,578,122 (GRCm39)	Q168R	probably benign	Het
Adamts4	A	G	1: 171,080,311 (GRCm39)	Q288R	probably benign	Het
Atad2	G	A	15: 57,966,760 (GRCm39)	A611V	probably damaging	Het
Aup1	T	C	6: 83,032,187 (GRCm39)	V118A	possibly damaging	Het
Bend7	T	A	2: 4,768,122 (GRCm39)		probably benign	Het
Brd4	A	G	17: 32,417,646 (GRCm39)		probably benign	Het
C4b	C	A	17: 34,957,941 (GRCm39)	R580L	probably benign	Het
Cct8	G	T	16: 87,288,342 (GRCm39)		probably benign	Het
Cfhr4	A	T	1: 139,664,608 (GRCm39)	C484S	probably damaging	Het
Cilp	T	C	9: 65,183,127 (GRCm39)	Y344H	probably benign	Het
Clic6	A	T	16: 92,288,961 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,703 (GRCm39)	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,224,955 (GRCm39)	A212S	probably benign	Het
Csmd3	A	C	15: 47,475,294 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,679,393 (GRCm39)	D366G	probably benign	Het
Dhx33	A	G	11: 70,890,354 (GRCm39)	S222P	probably damaging	Het
Dhx40	T	A	11: 86,697,379 (GRCm39)	I63F	possibly damaging	Het
Dipk2b	A	C	X: 18,286,701 (GRCm39)	L285V	possibly damaging	Het
Dlgap2	T	A	8: 14,879,861 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,105,957 (GRCm39)	D20E	unknown	Het
Dnase2b	C	A	3: 146,290,312 (GRCm39)	A220S	probably benign	Het
Dock10	T	C	1: 80,570,352 (GRCm39)	E362G	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Epha10	C	A	4: 124,779,389 (GRCm39)	N78K	probably damaging	Het
Epha3	A	G	16: 63,593,416 (GRCm39)	V224A	probably damaging	Het
Fcgr4	C	A	1: 170,847,523 (GRCm39)	D40E	probably damaging	Het
Fer1l4	T	C	2: 155,887,553 (GRCm39)	M548V	probably benign	Het
Flii	C	T	11: 60,610,518 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,444,079 (GRCm39)	Y631F	probably benign	Het
Gm6871	A	C	7: 41,195,514 (GRCm39)		probably null	Het
Gtf2ird1	A	T	5: 134,387,772 (GRCm39)	S1028T	possibly damaging	Het
Hycc1	A	T	5: 24,170,139 (GRCm39)	D403E	probably benign	Het
Hydin	A	G	8: 111,301,486 (GRCm39)	H3739R	probably benign	Het
Iqcg	A	T	16: 32,865,895 (GRCm39)	N149K	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Itih2	T	G	2: 10,110,025 (GRCm39)	D576A	probably benign	Het
Kcmf1	T	C	6: 72,825,212 (GRCm39)	T243A	probably benign	Het
Kif1a	A	G	1: 93,002,670 (GRCm39)		probably benign	Het
Klf10	C	T	15: 38,297,030 (GRCm39)	G337S	probably damaging	Het
Krt31	T	C	11: 99,938,699 (GRCm39)	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,882,823 (GRCm39)	E556G	probably benign	Het
Mael	A	T	1: 166,029,859 (GRCm39)	S354T	probably benign	Het
Mast3	T	C	8: 71,238,816 (GRCm39)	D496G	probably damaging	Het
Med12l	A	G	3: 59,172,661 (GRCm39)	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,944,260 (GRCm39)		probably null	Het
Moap1	A	T	12: 102,709,504 (GRCm39)	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,764,683 (GRCm39)	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myo9b	T	A	8: 71,743,620 (GRCm39)	L227Q	probably damaging	Het
Myom2	T	C	8: 15,154,059 (GRCm39)		probably benign	Het
Naip6	C	A	13: 100,452,983 (GRCm39)	R26L	probably benign	Het
Nbea	T	C	3: 55,966,248 (GRCm39)	T405A	probably damaging	Het
Nrp2	T	A	1: 62,802,063 (GRCm39)	I502N	probably damaging	Het
Nt5el	A	T	13: 105,246,129 (GRCm39)	H230L	probably benign	Het
Nufip2	G	A	11: 77,582,733 (GRCm39)	E216K	possibly damaging	Het
Oaf	A	G	9: 43,133,930 (GRCm39)	Y264H	probably damaging	Het
Or51a42	A	G	7: 103,708,431 (GRCm39)	V126A	probably damaging	Het
Or5m10	T	C	2: 85,717,615 (GRCm39)	L157P	probably damaging	Het
Or6c217	A	T	10: 129,738,293 (GRCm39)	C95*	probably null	Het
Pax1	T	C	2: 147,210,321 (GRCm39)	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,764,974 (GRCm39)		probably null	Het
Plxna3	G	A	X: 73,383,772 (GRCm39)		probably null	Het
Pnpla3	T	C	15: 84,065,247 (GRCm39)	V347A	probably benign	Het
Ppl	T	A	16: 4,920,461 (GRCm39)	K350*	probably null	Het
Pramel28	T	C	4: 143,692,632 (GRCm39)	D123G	probably benign	Het
Prb1a	T	A	6: 132,186,424 (GRCm39)		probably null	Het
Prb1a	C	A	6: 132,186,423 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,275,574 (GRCm39)	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,747 (GRCm39)	H946N	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad51b	A	G	12: 79,349,317 (GRCm39)	E51G	possibly damaging	Het
Rin2	T	C	2: 145,700,366 (GRCm39)	V181A	probably damaging	Het
Rnf157	T	A	11: 116,245,188 (GRCm39)		probably null	Het
Rnf207	A	G	4: 152,398,328 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,299,183 (GRCm39)	K852M	probably damaging	Het
Sbp	T	A	17: 24,164,043 (GRCm39)	I102K	probably benign	Het
Scaf8	T	C	17: 3,195,429 (GRCm39)	I33T	probably damaging	Het
Scn5a	C	T	9: 119,315,699 (GRCm39)	V1670I	probably damaging	Het
Serhl	C	T	15: 82,989,877 (GRCm39)	T42M	probably damaging	Het
Slc12a2	A	G	18: 58,012,374 (GRCm39)	S166G	probably benign	Het
Slc15a4	G	A	5: 127,680,832 (GRCm39)	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,239,143 (GRCm39)	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,992,199 (GRCm39)	T118M	possibly damaging	Het
Spns2	A	T	11: 72,347,193 (GRCm39)	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,650 (GRCm39)	S112T	probably damaging	Het
Stard10	A	T	7: 100,993,233 (GRCm39)	D190V	probably damaging	Het
Stil	A	T	4: 114,881,049 (GRCm39)	K531M	probably damaging	Het
Strc	T	C	2: 121,203,219 (GRCm39)		probably null	Het
Svil	T	A	18: 5,046,817 (GRCm39)	I21N	possibly damaging	Het
Syt11	T	C	3: 88,656,110 (GRCm39)	M14V	probably benign	Het
Tasor2	A	T	13: 3,640,413 (GRCm39)	H241Q	possibly damaging	Het
Tg	A	T	15: 66,577,081 (GRCm39)	Q1468L	probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,486,658 (GRCm39)	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 106,554,383 (GRCm39)		probably benign	Het
Tyr	C	A	7: 87,141,914 (GRCm39)	L138F	probably damaging	Het
Ubash3b	A	G	9: 40,927,901 (GRCm39)	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,709,098 (GRCm39)	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,658,968 (GRCm39)	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,740,465 (GRCm39)	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Wdr90	T	C	17: 26,068,284 (GRCm39)	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,324,187 (GRCm39)	C261S	probably benign	Het
Zfp809	T	A	9: 22,146,395 (GRCm39)	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,239,066 (GRCm39)	Q99L	probably damaging	Het

Other mutations in Sin3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Sin3a	APN	9	57,005,185 (GRCm39)	missense	probably damaging	1.00
IGL00836:Sin3a	APN	9	57,014,629 (GRCm39)	splice site	probably null
IGL00913:Sin3a	APN	9	57,005,402 (GRCm39)	missense	probably benign	0.01
IGL01721:Sin3a	APN	9	57,002,609 (GRCm39)	missense	probably damaging	1.00
IGL01964:Sin3a	APN	9	57,014,631 (GRCm39)	splice site	probably benign
IGL02333:Sin3a	APN	9	57,014,843 (GRCm39)	missense	possibly damaging	0.86
IGL02673:Sin3a	APN	9	57,014,725 (GRCm39)	missense	probably damaging	0.99
Crumbled	UTSW	9	57,017,938 (GRCm39)	nonsense	probably null
Delicate	UTSW	9	57,011,213 (GRCm39)	missense	probably damaging	1.00
IGL03014:Sin3a	UTSW	9	57,002,539 (GRCm39)	intron	probably benign
PIT4519001:Sin3a	UTSW	9	57,002,740 (GRCm39)	missense	possibly damaging	0.86
R0024:Sin3a	UTSW	9	57,025,537 (GRCm39)	intron	probably benign
R0309:Sin3a	UTSW	9	57,018,196 (GRCm39)	missense	probably benign	0.00
R0511:Sin3a	UTSW	9	57,004,179 (GRCm39)	nonsense	probably null
R1205:Sin3a	UTSW	9	57,026,459 (GRCm39)	missense	probably damaging	1.00
R1365:Sin3a	UTSW	9	57,032,487 (GRCm39)	nonsense	probably null
R1496:Sin3a	UTSW	9	57,026,442 (GRCm39)	missense	possibly damaging	0.77
R1958:Sin3a	UTSW	9	57,012,893 (GRCm39)	missense	probably damaging	1.00
R1993:Sin3a	UTSW	9	57,008,483 (GRCm39)	missense	probably damaging	1.00
R2037:Sin3a	UTSW	9	57,004,109 (GRCm39)	missense	probably benign	0.14
R2065:Sin3a	UTSW	9	57,018,084 (GRCm39)	missense	possibly damaging	0.93
R2079:Sin3a	UTSW	9	56,996,807 (GRCm39)	missense	probably benign
R2193:Sin3a	UTSW	9	57,024,761 (GRCm39)	missense	possibly damaging	0.93
R3004:Sin3a	UTSW	9	57,004,118 (GRCm39)	nonsense	probably null
R3929:Sin3a	UTSW	9	57,025,421 (GRCm39)	missense	probably damaging	0.98
R4326:Sin3a	UTSW	9	57,002,642 (GRCm39)	missense	probably damaging	1.00
R4327:Sin3a	UTSW	9	57,002,642 (GRCm39)	missense	probably damaging	1.00
R4329:Sin3a	UTSW	9	57,002,642 (GRCm39)	missense	probably damaging	1.00
R4765:Sin3a	UTSW	9	57,004,087 (GRCm39)	missense	probably benign	0.14
R4806:Sin3a	UTSW	9	56,994,026 (GRCm39)	missense	probably damaging	0.99
R4979:Sin3a	UTSW	9	57,025,360 (GRCm39)	missense	probably damaging	1.00
R5018:Sin3a	UTSW	9	57,018,175 (GRCm39)	missense	probably benign	0.00
R5368:Sin3a	UTSW	9	57,018,084 (GRCm39)	missense	possibly damaging	0.93
R5379:Sin3a	UTSW	9	57,018,272 (GRCm39)	missense	probably benign	0.10
R5391:Sin3a	UTSW	9	57,012,957 (GRCm39)	missense	probably damaging	1.00
R5395:Sin3a	UTSW	9	57,012,957 (GRCm39)	missense	probably damaging	1.00
R5519:Sin3a	UTSW	9	57,025,457 (GRCm39)	critical splice donor site	probably null
R5927:Sin3a	UTSW	9	57,018,395 (GRCm39)	missense	probably damaging	1.00
R5987:Sin3a	UTSW	9	57,034,484 (GRCm39)	missense	possibly damaging	0.75
R6083:Sin3a	UTSW	9	57,014,824 (GRCm39)	missense	probably damaging	1.00
R6161:Sin3a	UTSW	9	57,002,708 (GRCm39)	missense	possibly damaging	0.48
R6196:Sin3a	UTSW	9	57,011,213 (GRCm39)	missense	probably damaging	1.00
R6374:Sin3a	UTSW	9	57,024,765 (GRCm39)	missense	probably benign
R6456:Sin3a	UTSW	9	57,020,985 (GRCm39)	missense	possibly damaging	0.79
R6815:Sin3a	UTSW	9	57,024,824 (GRCm39)	missense	probably benign	0.02
R6900:Sin3a	UTSW	9	57,014,858 (GRCm39)	missense	probably damaging	1.00
R7051:Sin3a	UTSW	9	57,011,218 (GRCm39)	missense	probably damaging	1.00
R7081:Sin3a	UTSW	9	57,001,755 (GRCm39)	missense	probably null	1.00
R7285:Sin3a	UTSW	9	57,034,583 (GRCm39)	missense	possibly damaging	0.57
R7462:Sin3a	UTSW	9	57,002,809 (GRCm39)	missense	probably benign	0.00
R7538:Sin3a	UTSW	9	57,011,210 (GRCm39)	missense	possibly damaging	0.95
R7699:Sin3a	UTSW	9	57,017,938 (GRCm39)	nonsense	probably null
R8150:Sin3a	UTSW	9	57,034,568 (GRCm39)	missense	possibly damaging	0.92
R8158:Sin3a	UTSW	9	57,020,828 (GRCm39)	critical splice acceptor site	probably null
R8717:Sin3a	UTSW	9	57,034,510 (GRCm39)	missense	probably damaging	0.99
R9048:Sin3a	UTSW	9	57,032,620 (GRCm39)	missense	probably damaging	0.99
R9283:Sin3a	UTSW	9	57,002,717 (GRCm39)	missense	probably damaging	0.99
R9300:Sin3a	UTSW	9	57,014,744 (GRCm39)	missense	probably damaging	1.00
R9330:Sin3a	UTSW	9	57,032,481 (GRCm39)	missense	probably damaging	1.00
R9396:Sin3a	UTSW	9	57,008,445 (GRCm39)	missense	probably benign	0.28
R9550:Sin3a	UTSW	9	56,996,768 (GRCm39)	missense	probably benign	0.00
R9746:Sin3a	UTSW	9	57,025,358 (GRCm39)	missense	probably benign	0.11
RF017:Sin3a	UTSW	9	57,034,610 (GRCm39)	missense	possibly damaging	0.90
X0026:Sin3a	UTSW	9	57,032,476 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCGTGTGGACACTGTGCCTCAT -3'
(R):5'- AGCTGATACTGTGCCAGCACCTT -3'

Sequencing Primer
(F):5'- GAGAGAGGTTACAGCATCCTATTGTC -3'
(R):5'- actcacctgcctctgcc -3'

Posted On

2014-04-13