Incidental Mutation 'IGL01107:Sin3b'
ID51776
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 #IGL01107
Quality Score
Status
Chromosome8
Chromosomal Location72723285-72758201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72731105 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 150 (C150R)
Ref Sequence ENSEMBL: ENSMUSP00000148599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004494] [ENSMUST00000109950] [ENSMUST00000212095] [ENSMUST00000212096]
Predicted Effect probably benign
Transcript: ENSMUST00000004494
AA Change: C129R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: C129R

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
AA Change: C129R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622
AA Change: C129R

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
AA Change: C129R

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212096
AA Change: C150R

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Sin3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Sin3b APN 8 72757000 missense probably benign 0.22
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 On2013-06-21