Incidental Mutation 'R5927:Sin3b'
ID 459951
Institutional Source Beutler Lab
Gene Symbol Sin3b
Ensembl Gene ENSMUSG00000031622
Gene Name transcriptional regulator, SIN3B (yeast)
Synonyms 2810430C10Rik
MMRRC Submission 044122-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5927 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73449913-73484829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73476506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 647 (R647S)
Ref Sequence ENSEMBL: ENSMUSP00000004494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004494]
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: R647S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: R647S

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 noncoding transcript
Transcript: ENSMUST00000212256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212435
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (73/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T A 3: 153,644,745 (GRCm39) I60F probably damaging Het
Ankrd26 A G 6: 118,484,597 (GRCm39) probably null Het
Arhgdib A T 6: 136,901,136 (GRCm39) W198R probably damaging Het
Atad5 T A 11: 80,018,111 (GRCm39) I1354N probably damaging Het
Ccdc146 T A 5: 21,513,619 (GRCm39) K500* probably null Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Cmip A T 8: 117,984,048 (GRCm39) T70S possibly damaging Het
Col22a1 G T 15: 71,878,815 (GRCm39) A114E probably damaging Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Crebzf C T 7: 90,093,531 (GRCm39) probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
D630036H23Rik C A 12: 36,431,671 (GRCm39) probably benign Het
Dnah5 A T 15: 28,335,864 (GRCm39) T2277S probably benign Het
Dysf T A 6: 84,184,194 (GRCm39) F2083Y probably damaging Het
Elavl4 T A 4: 110,147,440 (GRCm39) probably benign Het
Elp3 A G 14: 65,819,626 (GRCm39) Y111H probably damaging Het
Eps8l2 A T 7: 140,936,259 (GRCm39) Q243L probably benign Het
Eri2 C A 7: 119,385,291 (GRCm39) L403F probably damaging Het
Fgfr4 T A 13: 55,314,700 (GRCm39) N614K probably damaging Het
Gm5108 T G 5: 68,134,214 (GRCm39) I74S unknown Het
Gpn1 T C 5: 31,658,235 (GRCm39) F130L probably damaging Het
Gpr176 T A 2: 118,203,521 (GRCm39) I50F probably benign Het
Gramd1a A G 7: 30,839,246 (GRCm39) S221P probably benign Het
Hivep3 A G 4: 119,954,305 (GRCm39) T874A possibly damaging Het
Igkv12-40 A G 6: 69,856,383 (GRCm39) noncoding transcript Het
Itgb2 C A 10: 77,381,868 (GRCm39) P57T probably damaging Het
Kcmf1 T A 6: 72,819,988 (GRCm39) D286V possibly damaging Het
Kcnt1 T A 2: 25,799,388 (GRCm39) probably benign Het
Kif15 A G 9: 122,846,326 (GRCm39) S76G probably benign Het
Kpna3 C T 14: 61,622,096 (GRCm39) V223I probably damaging Het
Krt80 A G 15: 101,262,089 (GRCm39) probably benign Het
Lama4 A G 10: 38,948,808 (GRCm39) Y857C probably damaging Het
Lcorl G T 5: 45,882,766 (GRCm39) probably benign Het
Map4k3 A G 17: 80,921,348 (GRCm39) V528A probably benign Het
Mmp8 T A 9: 7,563,203 (GRCm39) N255K possibly damaging Het
Npat A T 9: 53,473,521 (GRCm39) K438* probably null Het
Or4a73 T A 2: 89,421,444 (GRCm39) N5I possibly damaging Het
P4htm T C 9: 108,474,582 (GRCm39) Y61C probably damaging Het
Pgap6 T C 17: 26,340,972 (GRCm39) Y692H probably benign Het
Polr3h G T 15: 81,801,480 (GRCm39) probably null Het
Prlr C T 15: 10,322,532 (GRCm39) T176I probably benign Het
Psme4 T G 11: 30,754,294 (GRCm39) F184V possibly damaging Het
Ptgfrn A T 3: 100,967,968 (GRCm39) F542I possibly damaging Het
Rock1 T C 18: 10,116,792 (GRCm39) E448G probably damaging Het
Rpf1 A T 3: 146,225,218 (GRCm39) probably null Het
Sectm1b T C 11: 120,946,500 (GRCm39) I132V probably benign Het
Sestd1 T A 2: 77,017,503 (GRCm39) H688L probably benign Het
Sidt2 T C 9: 45,855,752 (GRCm39) Y530C probably damaging Het
Sin3a A T 9: 57,018,395 (GRCm39) K938M probably damaging Het
Slc16a14 T C 1: 84,889,988 (GRCm39) H439R possibly damaging Het
Stc1 T C 14: 69,269,822 (GRCm39) V134A probably benign Het
Stk11ip G A 1: 75,501,335 (GRCm39) V24I possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Thra G A 11: 98,654,514 (GRCm39) V295I possibly damaging Het
Tnr T C 1: 159,740,336 (GRCm39) M1170T probably damaging Het
Tpcn2 T A 7: 144,832,521 (GRCm39) I112F probably damaging Het
Trdv2-2 T C 14: 54,198,998 (GRCm39) L96P probably damaging Het
Trim24 T A 6: 37,935,504 (GRCm39) W832R probably damaging Het
Usp4 T G 9: 108,268,959 (GRCm39) S891A probably benign Het
Vmn1r88 A T 7: 12,912,440 (GRCm39) R265S probably benign Het
Vmn2r118 A G 17: 55,931,494 (GRCm39) L60S probably benign Het
Wdr74 T C 19: 8,717,197 (GRCm39) C220R possibly damaging Het
Xpo1 A T 11: 23,218,653 (GRCm39) probably benign Het
Xpo1 A T 11: 23,218,656 (GRCm39) probably benign Het
Zfp850 C A 7: 27,689,620 (GRCm39) G196V probably benign 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
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
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'- CTTTCTAAGGAGGCTGGAGG -3'
(R):5'- TACACATCGTCCAGGACCTTG -3'

Sequencing Primer
(F):5'- CTAAGGAGGCTGGAGGTTATGC -3'
(R):5'- AGGACCTTGGGCGGTTC -3'
Posted On 2017-02-28