Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Sin3b'

687307

Institutional Source

Beutler Lab

Gene Symbol

Sin3b

Ensembl Gene

ENSMUSG00000031622

Gene Name

transcriptional regulator, SIN3B (yeast)

Synonyms

2810430C10Rik

MMRRC Submission

068864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73449913-73484829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73450092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 3 (P3H)

Ref Sequence

ENSEMBL: ENSMUSP00000148599 (fasta)

Gene Model

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

AlphaFold

Q62141

Predicted Effect

probably benign
Transcript: ENSMUST00000004494

SMART Domains

Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622

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 benign
Transcript: ENSMUST00000109950

SMART Domains

Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622

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 benign
Transcript: ENSMUST00000212095

Predicted Effect

unknown
Transcript: ENSMUST00000212096
AA Change: P3H

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,021,461 (GRCm39)	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,510,460 (GRCm39)	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,693,167 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,963,842 (GRCm39)	V1784A	probably damaging	Het
Cabs1	T	C	5: 88,128,309 (GRCm39)	V320A	probably damaging	Het
Camta1	A	C	4: 151,229,159 (GRCm39)	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922 (GRCm39)	K466*	probably null	Het
Cdhr1	G	A	14: 36,810,924 (GRCm39)	P279L	possibly damaging	Het
Cenpe	A	G	3: 134,976,572 (GRCm39)	N2393S	probably benign	Het
Cep104	T	C	4: 154,063,462 (GRCm39)	V8A	probably benign	Het
Chaf1a	T	A	17: 56,371,110 (GRCm39)	V665E	probably damaging	Het
Clasp1	T	A	1: 118,431,583 (GRCm39)	D404E	probably damaging	Het
Clnk	G	A	5: 38,907,751 (GRCm39)	T169I	possibly damaging	Het
Cnst	G	A	1: 179,437,587 (GRCm39)	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,162 (GRCm39)	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,823,855 (GRCm39)	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,588,959 (GRCm39)	K572R	probably benign	Het
Dnai4	T	A	4: 102,905,499 (GRCm39)	K761*	probably null	Het
Dolk	C	A	2: 30,174,542 (GRCm39)	W501L	probably damaging	Het
Ednrb	G	A	14: 104,080,665 (GRCm39)	P83L	probably benign	Het
Edrf1	T	C	7: 133,245,431 (GRCm39)	W190R	probably damaging	Het
Epha5	T	A	5: 84,255,886 (GRCm39)	D468V	probably damaging	Het
Fat2	G	T	11: 55,194,547 (GRCm39)	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,717,041 (GRCm39)	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,758,449 (GRCm39)	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,161,140 (GRCm39)	S557R	probably benign	Het
Gmip	A	T	8: 70,273,298 (GRCm39)	H863L	probably damaging	Het
Grm3	A	T	5: 9,620,464 (GRCm39)	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,566,511 (GRCm39)	P64S	probably benign	Het
Hand1	A	C	11: 57,722,548 (GRCm39)	M22R	probably benign	Het
Ift70b	T	C	2: 75,767,596 (GRCm39)	T386A	probably benign	Het
Igsf21	A	G	4: 139,884,782 (GRCm39)	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,578,637 (GRCm39)	R291*	probably null	Het
Itih4	C	G	14: 30,618,650 (GRCm39)	P687R	probably benign	Het
Kifc3	C	T	8: 95,853,195 (GRCm39)	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,524,010 (GRCm39)	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,518,708 (GRCm39)	R101S	unknown	Het
L3mbtl2	T	A	15: 81,560,744 (GRCm39)		probably benign	Het
Lcor	A	T	19: 41,573,399 (GRCm39)	H718L	probably benign	Het
Lrrc73	T	C	17: 46,565,293 (GRCm39)	I8T	probably damaging	Het
Med19	C	A	2: 84,516,532 (GRCm39)		probably benign	Het
Mgarp	C	T	3: 51,296,264 (GRCm39)	S246N	unknown	Het
Mkrn2	T	C	6: 115,594,681 (GRCm39)	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,926,279 (GRCm39)	R137H	unknown	Het
Myo1g	A	G	11: 6,464,916 (GRCm39)	Y453H	probably damaging	Het
Nacc2	C	A	2: 25,951,605 (GRCm39)	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,725,217 (GRCm39)	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,488,595 (GRCm39)	T580K	probably damaging	Het
Nobox	A	T	6: 43,284,522 (GRCm39)	D41E	probably damaging	Het
Nsd1	A	G	13: 55,393,667 (GRCm39)	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,246,873 (GRCm39)	M370V	probably benign	Het
Olfm5	T	A	7: 103,803,099 (GRCm39)	N455Y	probably damaging	Het
Or2g7	T	C	17: 38,378,179 (GRCm39)	V39A	probably benign	Het
Or4c101	T	A	2: 88,389,863 (GRCm39)	F6I	probably damaging	Het
Or52e19	T	C	7: 102,959,186 (GRCm39)	I86T	probably damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or8k33	T	A	2: 86,384,021 (GRCm39)	Y149F	probably damaging	Het
Pcdhac2	T	C	18: 37,277,758 (GRCm39)	V246A	probably damaging	Het
Pclo	A	T	5: 14,763,192 (GRCm39)	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,573,176 (GRCm39)	Q1910L	probably damaging	Het
Plg	C	A	17: 12,609,107 (GRCm39)	Y137*	probably null	Het
Prkra	T	C	2: 76,460,856 (GRCm39)	I281V	probably benign	Het
Prrc2c	A	C	1: 162,503,295 (GRCm39)	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,279,149 (GRCm39)	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,708,290 (GRCm39)	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772 (GRCm38)	Y17N	possibly damaging	Het
Ryr1	A	T	7: 28,790,422 (GRCm39)	H1468Q	probably damaging	Het
Scp2	C	T	4: 107,912,717 (GRCm39)	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,080,381 (GRCm39)	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,782,238 (GRCm39)	S34G	probably benign	Het
Shisa9	T	A	16: 11,802,902 (GRCm39)	I153N	probably damaging	Het
Slc15a2	C	A	16: 36,602,719 (GRCm39)	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,726,586 (GRCm39)	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,909,187 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,476 (GRCm39)	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491 (GRCm39)	Q460K	probably benign	Het
Tlr11	A	T	14: 50,598,434 (GRCm39)	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945 (GRCm39)	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384 (GRCm39)		probably benign	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tpm1	A	G	9: 66,955,138 (GRCm39)	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,043,723 (GRCm39)		probably benign	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Ttn	T	C	2: 76,593,061 (GRCm39)	T20730A	possibly damaging	Het
Uap1	A	T	1: 169,977,013 (GRCm39)	Y395*	probably null	Het
Usp2	A	T	9: 43,987,176 (GRCm39)	D158V	probably damaging	Het
Usp30	A	G	5: 114,243,877 (GRCm39)	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,024,172 (GRCm39)	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,261,479 (GRCm39)	V286A	probably benign	Het
Xdh	T	C	17: 74,217,222 (GRCm39)	H682R	probably benign	Het
Zbed3	T	A	13: 95,472,999 (GRCm39)	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,820,162 (GRCm39)	C373R	possibly damaging	Het

Other mutations in Sin3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Sin3b	APN	8	73,483,628 (GRCm39)	missense	probably benign	0.22
IGL01107:Sin3b	APN	8	73,457,733 (GRCm39)	missense	possibly damaging	0.74
IGL01114:Sin3b	APN	8	73,471,133 (GRCm39)	missense	probably benign	0.06
IGL01603:Sin3b	APN	8	73,476,692 (GRCm39)	missense	probably damaging	1.00
IGL01763:Sin3b	APN	8	73,473,236 (GRCm39)	missense	probably damaging	1.00
IGL02078:Sin3b	APN	8	73,480,208 (GRCm39)	missense	possibly damaging	0.49
IGL02572:Sin3b	APN	8	73,471,109 (GRCm39)	missense	probably benign	0.15
IGL02732:Sin3b	APN	8	73,460,081 (GRCm39)	missense	possibly damaging	0.72
IGL02831:Sin3b	APN	8	73,471,190 (GRCm39)	missense	probably damaging	1.00
IGL03064:Sin3b	APN	8	73,483,686 (GRCm39)	unclassified	probably benign
IGL03107:Sin3b	APN	8	73,480,213 (GRCm39)	missense	probably damaging	0.99
IGL03142:Sin3b	APN	8	73,471,196 (GRCm39)	missense	probably damaging	1.00
3-1:Sin3b	UTSW	8	73,479,837 (GRCm39)	missense	possibly damaging	0.95
R0070:Sin3b	UTSW	8	73,452,210 (GRCm39)	missense	probably damaging	1.00
R0070:Sin3b	UTSW	8	73,452,210 (GRCm39)	missense	probably damaging	1.00
R0226:Sin3b	UTSW	8	73,471,136 (GRCm39)	missense	probably benign	0.44
R0629:Sin3b	UTSW	8	73,480,164 (GRCm39)	splice site	probably benign
R1486:Sin3b	UTSW	8	73,477,141 (GRCm39)	missense	probably benign	0.00
R1524:Sin3b	UTSW	8	73,479,915 (GRCm39)	missense	probably benign	0.05
R1653:Sin3b	UTSW	8	73,468,147 (GRCm39)	missense	probably benign	0.30
R2144:Sin3b	UTSW	8	73,457,893 (GRCm39)	missense	probably damaging	1.00
R2180:Sin3b	UTSW	8	73,479,923 (GRCm39)	nonsense	probably null
R2271:Sin3b	UTSW	8	73,460,047 (GRCm39)	missense	probably benign	0.11
R2353:Sin3b	UTSW	8	73,450,780 (GRCm39)	critical splice donor site	probably null
R3945:Sin3b	UTSW	8	73,460,067 (GRCm39)	missense	possibly damaging	0.88
R4412:Sin3b	UTSW	8	73,466,407 (GRCm39)	missense	probably benign	0.16
R4564:Sin3b	UTSW	8	73,480,209 (GRCm39)	missense	probably damaging	1.00
R4782:Sin3b	UTSW	8	73,452,271 (GRCm39)	missense	probably benign	0.04
R4799:Sin3b	UTSW	8	73,452,271 (GRCm39)	missense	probably benign	0.04
R4863:Sin3b	UTSW	8	73,471,576 (GRCm39)	missense	possibly damaging	0.91
R5011:Sin3b	UTSW	8	73,471,184 (GRCm39)	missense	probably benign	0.39
R5237:Sin3b	UTSW	8	73,459,971 (GRCm39)	critical splice acceptor site	probably null
R5325:Sin3b	UTSW	8	73,477,154 (GRCm39)	missense	probably damaging	1.00
R5725:Sin3b	UTSW	8	73,452,320 (GRCm39)	critical splice donor site	probably null
R5927:Sin3b	UTSW	8	73,476,506 (GRCm39)	missense	probably benign	0.00
R5945:Sin3b	UTSW	8	73,457,793 (GRCm39)	missense	probably damaging	0.97
R6492:Sin3b	UTSW	8	73,460,118 (GRCm39)	critical splice donor site	probably null
R7092:Sin3b	UTSW	8	73,474,498 (GRCm39)	critical splice donor site	probably null
R7106:Sin3b	UTSW	8	73,450,765 (GRCm39)	missense	possibly damaging	0.90
R7258:Sin3b	UTSW	8	73,476,836 (GRCm39)	missense	probably benign	0.00
R7472:Sin3b	UTSW	8	73,479,853 (GRCm39)	missense	probably damaging	1.00
R7475:Sin3b	UTSW	8	73,476,500 (GRCm39)	missense	possibly damaging	0.47
R7491:Sin3b	UTSW	8	73,473,069 (GRCm39)	missense	probably damaging	1.00
R7636:Sin3b	UTSW	8	73,474,362 (GRCm39)	nonsense	probably null
R8063:Sin3b	UTSW	8	73,452,169 (GRCm39)	missense	probably damaging	1.00
R8354:Sin3b	UTSW	8	73,468,108 (GRCm39)	missense	probably benign
R8454:Sin3b	UTSW	8	73,468,108 (GRCm39)	missense	probably benign
R8711:Sin3b	UTSW	8	73,450,026 (GRCm39)	missense	probably damaging	0.97
R8719:Sin3b	UTSW	8	73,450,139 (GRCm39)	missense	unknown
R8807:Sin3b	UTSW	8	73,476,708 (GRCm39)	missense	probably benign	0.00
R8857:Sin3b	UTSW	8	73,483,523 (GRCm39)	missense	probably benign
R8924:Sin3b	UTSW	8	73,473,131 (GRCm39)	missense	probably benign	0.05
R9127:Sin3b	UTSW	8	73,460,034 (GRCm39)	missense	possibly damaging	0.70
R9272:Sin3b	UTSW	8	73,471,168 (GRCm39)	missense	probably benign	0.02
R9455:Sin3b	UTSW	8	73,450,681 (GRCm39)	missense	possibly damaging	0.56
R9641:Sin3b	UTSW	8	73,477,187 (GRCm39)	missense	probably damaging	1.00
X0017:Sin3b	UTSW	8	73,457,793 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTCTGACTTCCAACATGGCG -3'
(R):5'- ACTAGGAGGATCGAAGGTTTTC -3'

Sequencing Primer
(F):5'- TTCCAACATGGCGCATGCAG -3'
(R):5'- TCGCAGGAATGACTGAGAGATGTC -3'

Posted On

2021-11-19