Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Sin3b'

236643

Institutional Source

Beutler Lab

Gene Symbol

Sin3b

Ensembl Gene

ENSMUSG00000031622

Gene Name

transcriptional regulator, SIN3B (yeast)

Synonyms

2810430C10Rik

MMRRC Submission

040147-MU

Accession Numbers

Genbank: NM_009188, NM_001113248; MGI: 107158

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72723285-72758201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72731265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 203 (L203P)

Ref Sequence

ENSEMBL: ENSMUSP00000148599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000109950] [ENSMUST00000212095] [ENSMUST00000212096]

AlphaFold

Q62141

Predicted Effect

probably damaging
Transcript: ENSMUST00000004494
AA Change: L182P

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

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: L182P

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:PAH	53	97	2.5e-19	PFAM
Pfam:PAH	173	227	4.4e-20	PFAM
Pfam:PAH	313	357	1.6e-8	PFAM
HDAC_interact	384	484	2.75e-58	SMART
low complexity region	667	688	N/A	INTRINSIC
Pfam:Sin3a_C	712	1011	7.2e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109950
AA Change: L182P

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

SMART Domains

Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622
AA Change: L182P

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:PAH	53	97	3.4e-20	PFAM
Pfam:PAH	173	227	5.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212095
AA Change: L182P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212096
AA Change: L203P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(3)

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502		probably null	Het
Ccnk	T	A	12: 108,189,090	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdc123	A	T	2: 5,810,806	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084	F137S	probably damaging	Het
Des	A	G	1: 75,366,804	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337		probably null	Het
Hunk	G	A	16: 90,432,532	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Ints10	A	G	8: 68,796,805	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189		probably null	Het
Mrgpra9	T	C	7: 47,235,463	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168	V660A	probably benign	Het
Myof	A	G	19: 37,981,221		probably null	Het
Myrf	G	A	19: 10,228,674	P126L	probably benign	Het
Nckap1l	C	T	15: 103,475,676	A567V	probably damaging	Het
Nphs1	A	G	7: 30,460,970	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173	S396T	probably benign	Het
Pappa	T	A	4: 65,180,949	Y568*	probably null	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Pik3r6	T	A	11: 68,543,611	L546*	probably null	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395	T215S	unknown	Het
Prss22	A	G	17: 23,994,682	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110	*450Q	probably null	Het
Rere	T	C	4: 150,616,931	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,407,983	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Skint6	T	C	4: 113,236,260	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
St7	A	T	6: 17,886,007	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541	V23G	possibly damaging	Het
Trhr	T	C	15: 44,197,183	V33A	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988		probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202	T959A	probably benign	Het

Other mutations in Sin3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Sin3b	APN	8	72757000	missense	probably benign	0.22
IGL01107:Sin3b	APN	8	72731105	missense	possibly damaging	0.74
IGL01114:Sin3b	APN	8	72744505	missense	probably benign	0.06
IGL01603:Sin3b	APN	8	72750064	missense	probably damaging	1.00
IGL01763:Sin3b	APN	8	72746608	missense	probably damaging	1.00
IGL02078:Sin3b	APN	8	72753580	missense	possibly damaging	0.49
IGL02572:Sin3b	APN	8	72744481	missense	probably benign	0.15
IGL02732:Sin3b	APN	8	72733453	missense	possibly damaging	0.72
IGL02831:Sin3b	APN	8	72744562	missense	probably damaging	1.00
IGL03064:Sin3b	APN	8	72757058	unclassified	probably benign
IGL03107:Sin3b	APN	8	72753585	missense	probably damaging	0.99
IGL03142:Sin3b	APN	8	72744568	missense	probably damaging	1.00
3-1:Sin3b	UTSW	8	72753209	missense	possibly damaging	0.95
R0070:Sin3b	UTSW	8	72725582	missense	probably damaging	1.00
R0070:Sin3b	UTSW	8	72725582	missense	probably damaging	1.00
R0226:Sin3b	UTSW	8	72744508	missense	probably benign	0.44
R0629:Sin3b	UTSW	8	72753536	splice site	probably benign
R1486:Sin3b	UTSW	8	72750513	missense	probably benign	0.00
R1524:Sin3b	UTSW	8	72753287	missense	probably benign	0.05
R1653:Sin3b	UTSW	8	72741519	missense	probably benign	0.30
R2180:Sin3b	UTSW	8	72753295	nonsense	probably null
R2271:Sin3b	UTSW	8	72733419	missense	probably benign	0.11
R2353:Sin3b	UTSW	8	72724152	critical splice donor site	probably null
R3945:Sin3b	UTSW	8	72733439	missense	possibly damaging	0.88
R4412:Sin3b	UTSW	8	72739779	missense	probably benign	0.16
R4564:Sin3b	UTSW	8	72753581	missense	probably damaging	1.00
R4782:Sin3b	UTSW	8	72725643	missense	probably benign	0.04
R4799:Sin3b	UTSW	8	72725643	missense	probably benign	0.04
R4863:Sin3b	UTSW	8	72744948	missense	possibly damaging	0.91
R5011:Sin3b	UTSW	8	72744556	missense	probably benign	0.39
R5237:Sin3b	UTSW	8	72733343	critical splice acceptor site	probably null
R5325:Sin3b	UTSW	8	72750526	missense	probably damaging	1.00
R5725:Sin3b	UTSW	8	72725692	critical splice donor site	probably null
R5927:Sin3b	UTSW	8	72749878	missense	probably benign	0.00
R5945:Sin3b	UTSW	8	72731165	missense	probably damaging	0.97
R6492:Sin3b	UTSW	8	72733490	critical splice donor site	probably null
R7092:Sin3b	UTSW	8	72747870	critical splice donor site	probably null
R7106:Sin3b	UTSW	8	72724137	missense	possibly damaging	0.90
R7258:Sin3b	UTSW	8	72750208	missense	probably benign	0.00
R7472:Sin3b	UTSW	8	72753225	missense	probably damaging	1.00
R7475:Sin3b	UTSW	8	72749872	missense	possibly damaging	0.47
R7491:Sin3b	UTSW	8	72746441	missense	probably damaging	1.00
R7636:Sin3b	UTSW	8	72747734	nonsense	probably null
R8063:Sin3b	UTSW	8	72725541	missense	probably damaging	1.00
R8354:Sin3b	UTSW	8	72741480	missense	probably benign
R8454:Sin3b	UTSW	8	72741480	missense	probably benign
R8711:Sin3b	UTSW	8	72723398	missense	probably damaging	0.97
R8719:Sin3b	UTSW	8	72723511	missense	unknown
R8807:Sin3b	UTSW	8	72750080	missense	probably benign	0.00
R8857:Sin3b	UTSW	8	72756895	missense	probably benign
R8924:Sin3b	UTSW	8	72746503	missense	probably benign	0.05
R9035:Sin3b	UTSW	8	72723464	missense	unknown
R9127:Sin3b	UTSW	8	72733406	missense	possibly damaging	0.70
R9272:Sin3b	UTSW	8	72744540	missense	probably benign	0.02
R9455:Sin3b	UTSW	8	72724053	missense	possibly damaging	0.56
R9641:Sin3b	UTSW	8	72750559	missense	probably damaging	1.00
X0017:Sin3b	UTSW	8	72731165	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATAGCCATGGTGACTGTGGG -3'
(R):5'- TCACTGCTACTGCACCAGTG -3'

Sequencing Primer
(F):5'- CTGTGGGGAGGACTTCAAGC -3'
(R):5'- AGTGGCTGGCCTACAAAC -3'

Posted On

2014-10-01