Incidental Mutation 'R4806:Sin3a'
ID 370687
Institutional Source Beutler Lab
Gene Symbol Sin3a
Ensembl Gene ENSMUSG00000042557
Gene Name transcriptional regulator, SIN3A (yeast)
Synonyms Sin3, mSin3A
MMRRC Submission 042425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4806 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 56979324-57035650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56994026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 44 (V44M)
Ref Sequence ENSEMBL: ENSMUSP00000126718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049169] [ENSMUST00000163400] [ENSMUST00000167715] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678] [ENSMUST00000169879]
AlphaFold Q60520
Predicted Effect probably damaging
Transcript: ENSMUST00000049169
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163400
AA Change: V44M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126718
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
Pfam:PAH 82 128 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167715
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168177
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 142 186 5.3e-22 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 323 380 9.6e-22 PFAM
Pfam:PAH 479 523 8.1e-11 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
Pfam:Sin3a_C 887 1190 1.2e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168502
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1138 1154 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168678
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: V44M

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169879
AA Change: V44M

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in early embryonic lethality. Homozygous null MEFs display poor cell proliferation, reduced S-phase and increased G2/M fractions, a block in DNA replication, and enhanced apoptosis; however, no increase in chromosomal instability is observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,265,070 (GRCm39) probably null Het
2410137M14Rik T A 17: 37,289,746 (GRCm39) H28L probably benign Het
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Acd A G 8: 106,424,922 (GRCm39) V406A possibly damaging Het
Acin1 A T 14: 54,916,685 (GRCm39) probably benign Het
Agbl4 T C 4: 110,812,834 (GRCm39) V118A probably damaging Het
Arhgap5 A G 12: 52,565,486 (GRCm39) D819G probably damaging Het
BC049715 A T 6: 136,816,927 (GRCm39) I56F possibly damaging Het
C1rb A T 6: 124,551,908 (GRCm39) Q270L probably benign Het
Cadps2 C T 6: 23,688,859 (GRCm39) R121Q probably damaging Het
Cd84 A G 1: 171,679,688 (GRCm39) Y122C probably benign Het
Cklf C A 8: 104,984,067 (GRCm39) P77T probably damaging Het
Clrn2 T C 5: 45,611,346 (GRCm39) L65P probably damaging Het
Csde1 TCCTCGACCT TCCT 3: 102,963,685 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,169,490 (GRCm39) D446G probably benign Het
Csmd3 T C 15: 48,177,464 (GRCm39) E358G probably benign Het
Dmkn C T 7: 30,470,667 (GRCm39) T385I possibly damaging Het
Dnah10 A G 5: 124,896,408 (GRCm39) T3591A probably damaging Het
Dpp9 A G 17: 56,497,030 (GRCm39) L734P probably damaging Het
Edem2 A G 2: 155,570,913 (GRCm39) V39A possibly damaging Het
Glmp A C 3: 88,233,320 (GRCm39) probably benign Het
Gm20775 T C Y: 10,641,885 (GRCm39) noncoding transcript Het
Gpr179 T G 11: 97,240,610 (GRCm39) D271A possibly damaging Het
Gtf2ird1 A G 5: 134,412,750 (GRCm39) V587A probably damaging Het
Igfn1 T A 1: 135,895,095 (GRCm39) T1824S probably benign Het
Ighmbp2 A T 19: 3,311,589 (GRCm39) I942N probably damaging Het
Ints2 A G 11: 86,147,035 (GRCm39) L37P probably benign Het
Irgq T A 7: 24,233,470 (GRCm39) L437Q probably damaging Het
Kcnq4 A T 4: 120,570,291 (GRCm39) W351R probably damaging Het
Kif3b G A 2: 153,162,288 (GRCm39) A500T probably damaging Het
Lpp A G 16: 24,480,430 (GRCm39) D66G probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mc4r T A 18: 66,992,559 (GRCm39) I185F probably damaging Het
Mdga1 T C 17: 30,061,128 (GRCm39) D621G probably benign Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Myh11 A T 16: 14,018,947 (GRCm39) probably null Het
Naip1 G A 13: 100,562,129 (GRCm39) A1012V probably benign Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Plb1 G A 5: 32,447,196 (GRCm39) G321D probably damaging Het
Plxnd1 A G 6: 115,937,816 (GRCm39) V1510A probably damaging Het
Polr1e T A 4: 45,024,482 (GRCm39) M131K probably benign Het
Prdm10 T A 9: 31,241,237 (GRCm39) *342R probably null Het
Prex2 T C 1: 11,138,244 (GRCm39) F108L probably damaging Het
Psmg2 T A 18: 67,781,992 (GRCm39) I186N probably benign Het
Ros1 T A 10: 51,972,271 (GRCm39) E1614D probably damaging Het
Slco1a1 G A 6: 141,854,735 (GRCm39) L639F possibly damaging Het
Smr2 T G 5: 88,246,289 (GRCm39) L101* probably null Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Stat5b G T 11: 100,681,623 (GRCm39) H544N probably benign Het
Syk A T 13: 52,786,963 (GRCm39) Y319F probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tsc22d1 A G 14: 76,654,428 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,169 (GRCm39) T657S probably damaging Het
Vmn2r63 A T 7: 42,576,314 (GRCm39) S500T probably benign Het
Vps45 A C 3: 95,953,725 (GRCm39) V209G probably benign Het
Xrcc1 C A 7: 24,269,905 (GRCm39) A442E probably benign Het
Ythdc1 T A 5: 86,970,704 (GRCm39) V430E probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp422 A T 6: 116,603,623 (GRCm39) N125K probably damaging Het
Zfp53 T A 17: 21,725,263 (GRCm39) D58E possibly damaging Het
Zfp707 C T 15: 75,845,000 (GRCm39) Q66* probably null Het
Other mutations in Sin3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Sin3a APN 9 57,005,185 (GRCm39) missense probably damaging 1.00
IGL00836:Sin3a APN 9 57,014,629 (GRCm39) splice site probably null
IGL00913:Sin3a APN 9 57,005,402 (GRCm39) missense probably benign 0.01
IGL01721:Sin3a APN 9 57,002,609 (GRCm39) missense probably damaging 1.00
IGL01964:Sin3a APN 9 57,014,631 (GRCm39) splice site probably benign
IGL02333:Sin3a APN 9 57,014,843 (GRCm39) missense possibly damaging 0.86
IGL02673:Sin3a APN 9 57,014,725 (GRCm39) missense probably damaging 0.99
Crumbled UTSW 9 57,017,938 (GRCm39) nonsense probably null
Delicate UTSW 9 57,011,213 (GRCm39) missense probably damaging 1.00
IGL03014:Sin3a UTSW 9 57,002,539 (GRCm39) intron probably benign
PIT4519001:Sin3a UTSW 9 57,002,740 (GRCm39) missense possibly damaging 0.86
R0024:Sin3a UTSW 9 57,025,537 (GRCm39) intron probably benign
R0309:Sin3a UTSW 9 57,018,196 (GRCm39) missense probably benign 0.00
R0511:Sin3a UTSW 9 57,004,179 (GRCm39) nonsense probably null
R1205:Sin3a UTSW 9 57,026,459 (GRCm39) missense probably damaging 1.00
R1365:Sin3a UTSW 9 57,032,487 (GRCm39) nonsense probably null
R1496:Sin3a UTSW 9 57,026,442 (GRCm39) missense possibly damaging 0.77
R1544:Sin3a UTSW 9 57,011,281 (GRCm39) splice site probably benign
R1958:Sin3a UTSW 9 57,012,893 (GRCm39) missense probably damaging 1.00
R1993:Sin3a UTSW 9 57,008,483 (GRCm39) missense probably damaging 1.00
R2037:Sin3a UTSW 9 57,004,109 (GRCm39) missense probably benign 0.14
R2065:Sin3a UTSW 9 57,018,084 (GRCm39) missense possibly damaging 0.93
R2079:Sin3a UTSW 9 56,996,807 (GRCm39) missense probably benign
R2193:Sin3a UTSW 9 57,024,761 (GRCm39) missense possibly damaging 0.93
R3004:Sin3a UTSW 9 57,004,118 (GRCm39) nonsense probably null
R3929:Sin3a UTSW 9 57,025,421 (GRCm39) missense probably damaging 0.98
R4326:Sin3a UTSW 9 57,002,642 (GRCm39) missense probably damaging 1.00
R4327:Sin3a UTSW 9 57,002,642 (GRCm39) missense probably damaging 1.00
R4329:Sin3a UTSW 9 57,002,642 (GRCm39) missense probably damaging 1.00
R4765:Sin3a UTSW 9 57,004,087 (GRCm39) missense probably benign 0.14
R4979:Sin3a UTSW 9 57,025,360 (GRCm39) missense probably damaging 1.00
R5018:Sin3a UTSW 9 57,018,175 (GRCm39) missense probably benign 0.00
R5368:Sin3a UTSW 9 57,018,084 (GRCm39) missense possibly damaging 0.93
R5379:Sin3a UTSW 9 57,018,272 (GRCm39) missense probably benign 0.10
R5391:Sin3a UTSW 9 57,012,957 (GRCm39) missense probably damaging 1.00
R5395:Sin3a UTSW 9 57,012,957 (GRCm39) missense probably damaging 1.00
R5519:Sin3a UTSW 9 57,025,457 (GRCm39) critical splice donor site probably null
R5927:Sin3a UTSW 9 57,018,395 (GRCm39) missense probably damaging 1.00
R5987:Sin3a UTSW 9 57,034,484 (GRCm39) missense possibly damaging 0.75
R6083:Sin3a UTSW 9 57,014,824 (GRCm39) missense probably damaging 1.00
R6161:Sin3a UTSW 9 57,002,708 (GRCm39) missense possibly damaging 0.48
R6196:Sin3a UTSW 9 57,011,213 (GRCm39) missense probably damaging 1.00
R6374:Sin3a UTSW 9 57,024,765 (GRCm39) missense probably benign
R6456:Sin3a UTSW 9 57,020,985 (GRCm39) missense possibly damaging 0.79
R6815:Sin3a UTSW 9 57,024,824 (GRCm39) missense probably benign 0.02
R6900:Sin3a UTSW 9 57,014,858 (GRCm39) missense probably damaging 1.00
R7051:Sin3a UTSW 9 57,011,218 (GRCm39) missense probably damaging 1.00
R7081:Sin3a UTSW 9 57,001,755 (GRCm39) missense probably null 1.00
R7285:Sin3a UTSW 9 57,034,583 (GRCm39) missense possibly damaging 0.57
R7462:Sin3a UTSW 9 57,002,809 (GRCm39) missense probably benign 0.00
R7538:Sin3a UTSW 9 57,011,210 (GRCm39) missense possibly damaging 0.95
R7699:Sin3a UTSW 9 57,017,938 (GRCm39) nonsense probably null
R8150:Sin3a UTSW 9 57,034,568 (GRCm39) missense possibly damaging 0.92
R8158:Sin3a UTSW 9 57,020,828 (GRCm39) critical splice acceptor site probably null
R8717:Sin3a UTSW 9 57,034,510 (GRCm39) missense probably damaging 0.99
R9048:Sin3a UTSW 9 57,032,620 (GRCm39) missense probably damaging 0.99
R9283:Sin3a UTSW 9 57,002,717 (GRCm39) missense probably damaging 0.99
R9300:Sin3a UTSW 9 57,014,744 (GRCm39) missense probably damaging 1.00
R9330:Sin3a UTSW 9 57,032,481 (GRCm39) missense probably damaging 1.00
R9396:Sin3a UTSW 9 57,008,445 (GRCm39) missense probably benign 0.28
R9550:Sin3a UTSW 9 56,996,768 (GRCm39) missense probably benign 0.00
R9746:Sin3a UTSW 9 57,025,358 (GRCm39) missense probably benign 0.11
RF017:Sin3a UTSW 9 57,034,610 (GRCm39) missense possibly damaging 0.90
X0026:Sin3a UTSW 9 57,032,476 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CGACTGGTTCTAAGTTATGTGCATC -3'
(R):5'- CTAGTGGTTCTTAAGCTTCATGTAC -3'

Sequencing Primer
(F):5'- ATGTGCATCATACTGGAGTGAG -3'
(R):5'- GTCATACGCTCTTTATGACG -3'
Posted On 2016-02-04