Incidental Mutation 'IGL00586:Sin3b'
ID14020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sin3b
Ensembl Gene ENSMUSG00000031622
Gene Nametranscriptional regulator, SIN3B (yeast)
Synonyms2810430C10Rik
Accession Numbers

Genbank: NM_009188, NM_001113248; MGI: 107158 

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00586
Quality Score
Status
Chromosome8
Chromosomal Location72723285-72758201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72757000 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 1005 (V1005A)
Ref Sequence ENSEMBL: ENSMUSP00000004494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000058099]
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: V1005A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: V1005A

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: ENSMUST00000058099
SMART Domains Protein: ENSMUSP00000054426
Gene: ENSMUSG00000050147

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:2PV9|C 51 76 5e-12 PDB
Pfam:7TM_GPCR_Srsx 100 367 4.1e-8 PFAM
Pfam:7tm_1 106 352 7.6e-37 PFAM
low complexity region 369 387 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212755
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,069,935 S76P probably benign Het
Asap3 A C 4: 136,206,568 D17A probably damaging Het
Casc1 A T 6: 145,191,576 F269I possibly damaging Het
Ccdc24 C T 4: 117,872,046 R78H probably damaging Het
Crp T C 1: 172,699,001 F218L probably benign Het
Dab2 T C 15: 6,429,825 L385P probably benign Het
Dip2c C A 13: 9,610,755 T855N probably damaging Het
Ep400 A G 5: 110,739,594 V541A probably damaging Het
Gbgt1 A T 2: 28,502,195 probably null Het
Gm5771 T C 6: 41,396,115 I107T probably damaging Het
Gm6871 A T 7: 41,546,421 D297E possibly damaging Het
Gpr107 T A 2: 31,171,994 F145I probably benign Het
Itgb6 T G 2: 60,620,352 D581A probably benign Het
Lce1a1 C T 3: 92,647,163 M1I probably null Het
Lmbrd2 G A 15: 9,157,295 V207M probably damaging Het
Muc5b T A 7: 141,841,392 V45E unknown Het
Mybpc2 A G 7: 44,505,382 V977A probably damaging Het
Oas1c T C 5: 120,808,679 T29A probably benign Het
Pdzd2 G T 15: 12,365,767 probably null Het
Plk2 T C 13: 110,396,378 Y158H possibly damaging Het
Ptprq A G 10: 107,608,122 probably benign Het
Rnf17 C T 14: 56,421,082 T76I probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sidt2 A G 9: 45,943,052 V624A possibly damaging Het
Ubr4 T C 4: 139,455,184 V358A possibly damaging Het
Wdr60 A T 12: 116,241,780 D396E probably benign Het
Zfp120 T C 2: 150,119,828 I67V possibly damaging Het
Zfp942 A T 17: 21,928,624 H341Q probably damaging Het
Other mutations in Sin3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2144:Sin3b UTSW 8 72731265 missense probably damaging 1.00
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
X0017:Sin3b UTSW 8 72731165 missense probably damaging 0.97
Posted On2012-12-06