Incidental Mutation 'R1653:Sin3b'
ID 188859
Institutional Source Beutler Lab
Gene Symbol Sin3b
Ensembl Gene ENSMUSG00000031622
Gene Name transcriptional regulator, SIN3B (yeast)
Synonyms 2810430C10Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 73449913-73484829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73468147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 290 (V290L)
Ref Sequence ENSEMBL: ENSMUSP00000004494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000109950] [ENSMUST00000212095]
AlphaFold Q62141
PDB Structure STRUCTURE OF THE COMPLEX OF THE MAD1-SIN3B INTERACTION DOMAINS [SOLUTION NMR]
Extended SID of Mad1 bound to the PAH2 domain of mSin3B [SOLUTION NMR]
Solution structure of the first PAH domain of the mouse transcriptional repressor SIN3B [SOLUTION NMR]
Solution structure of the NRSF/REST-mSin3B PAH1 complex [SOLUTION NMR]
Solution structure of free PAH2 domain of mSin3B [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000004494
AA Change: V290L

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: V290L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000212435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213079
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Sin3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9035:Sin3b UTSW 8 73,450,092 (GRCm39) missense unknown
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'- GTAAGTGTCCTCAGCACCAGGTTC -3'
(R):5'- GCACCAGGCAGAAGCCTCATAAATG -3'

Sequencing Primer
(F):5'- CTCACACAAGGCCAAGGAGG -3'
(R):5'- TGTGCATGACCCTGAACTG -3'
Posted On 2014-05-09