Incidental Mutation 'R5987:Sin3a'
ID 481742
Institutional Source Beutler Lab
Gene Symbol Sin3a
Ensembl Gene ENSMUSG00000042557
Gene Name transcriptional regulator, SIN3A (yeast)
Synonyms Sin3, mSin3A
MMRRC Submission 044167-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5987 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 56979324-57035650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57034484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1219 (D1219G)
Ref Sequence ENSEMBL: ENSMUSP00000128956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000049169] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000168502] [ENSMUST00000167715] [ENSMUST00000168678] [ENSMUST00000168177] [ENSMUST00000161663] [ENSMUST00000160584] [ENSMUST00000161182] [ENSMUST00000162915] [ENSMUST00000161393]
AlphaFold Q60520
Predicted Effect probably benign
Transcript: ENSMUST00000034836
SMART Domains Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 4.3e-89 PFAM
Alpha-mann_mid 516 593 1.37e-26 SMART
low complexity region 603 613 N/A INTRINSIC
Pfam:Glyco_hydro_38C 619 1029 1.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049169
AA Change: D1216G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: D1216G

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 noncoding transcript
Transcript: ENSMUST00000125333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142077
Predicted Effect probably benign
Transcript: ENSMUST00000159130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160122
Predicted Effect probably benign
Transcript: ENSMUST00000160147
SMART Domains Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 2.8e-86 PFAM
Alpha-mann_mid 516 595 1.22e-32 SMART
low complexity region 605 615 N/A INTRINSIC
Pfam:Glyco_hydro_38C 621 1031 1.2e-84 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168502
AA Change: D1219G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: D1219G

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 benign
Transcript: ENSMUST00000167715
AA Change: D1216G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: D1216G

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 benign
Transcript: ENSMUST00000168678
AA Change: D1216G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: D1216G

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 possibly damaging
Transcript: ENSMUST00000168177
AA Change: D1219G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: D1219G

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 noncoding transcript
Transcript: ENSMUST00000162738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162340
Predicted Effect probably benign
Transcript: ENSMUST00000161663
SMART Domains Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 302 551 1.8e-81 PFAM
Alpha-mann_mid 557 636 1.22e-32 SMART
low complexity region 646 656 N/A INTRINSIC
Pfam:Glyco_hydro_38C 662 866 1.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160584
SMART Domains Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161182
SMART Domains Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38 175 411 9.4e-67 PFAM
Alpha-mann_mid 417 496 1.22e-32 SMART
low complexity region 506 516 N/A INTRINSIC
Pfam:Glyco_hydro_38C 522 932 1.1e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162915
Predicted Effect probably benign
Transcript: ENSMUST00000161393
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.2%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,297,257 (GRCm39) L2411R probably damaging Het
Als2 A G 1: 59,245,746 (GRCm39) W577R probably damaging Het
Aox1 C A 1: 58,346,518 (GRCm39) R551S probably benign Het
Areg A T 5: 91,294,577 (GRCm39) H245L possibly damaging Het
Arhgap35 T C 7: 16,297,392 (GRCm39) T558A possibly damaging Het
Arhgef28 A T 13: 98,073,368 (GRCm39) C1322* probably null Het
Arhgef38 T C 3: 132,912,719 (GRCm39) R107G possibly damaging Het
Atf7ip T A 6: 136,548,500 (GRCm39) F695L probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Bche T G 3: 73,556,011 (GRCm39) Q549P possibly damaging Het
Blnk A G 19: 40,917,733 (GRCm39) F417L possibly damaging Het
Bloc1s1 T G 10: 128,759,255 (GRCm39) K17T probably damaging Het
C330018D20Rik G T 18: 57,090,968 (GRCm39) T65K probably damaging Het
Ccdc168 A T 1: 44,096,417 (GRCm39) N1560K probably benign Het
Cers1 T A 8: 70,774,228 (GRCm39) S162T possibly damaging Het
Cgn T C 3: 94,686,832 (GRCm39) K157E probably benign Het
Cldn7 G A 11: 69,858,494 (GRCm39) R196Q probably benign Het
Clrn2 C A 5: 45,611,369 (GRCm39) Q73K probably benign Het
Cmss1 A G 16: 57,122,608 (GRCm39) V262A probably benign Het
Cpb2 T A 14: 75,498,128 (GRCm39) V97E probably damaging Het
Ctnnd2 G A 15: 30,683,387 (GRCm39) V463I probably benign Het
Cyp7a1 A T 4: 6,268,476 (GRCm39) S416R probably benign Het
Dip2b C T 15: 100,087,960 (GRCm39) R965C probably damaging Het
Dkk3 T C 7: 111,749,865 (GRCm39) T102A probably benign Het
Dmap1 C A 4: 117,538,039 (GRCm39) probably null Het
Dnah12 C A 14: 26,608,828 (GRCm39) D3872E possibly damaging Het
Dnah7b A G 1: 46,158,558 (GRCm39) probably null Het
Dnai1 C T 4: 41,632,391 (GRCm39) T575I probably benign Het
Dsg1a T A 18: 20,464,599 (GRCm39) Y365N probably damaging Het
Dusp11 T A 6: 85,936,215 (GRCm39) K18* probably null Het
E2f2 A T 4: 135,900,245 (GRCm39) T52S probably benign Het
Elavl4 A G 4: 110,147,841 (GRCm39) L13S probably benign Het
Epor T C 9: 21,873,572 (GRCm39) D59G possibly damaging Het
Eral1 A G 11: 77,971,059 (GRCm39) C43R possibly damaging Het
Fam135b A G 15: 71,362,697 (GRCm39) V228A probably benign Het
Gba1 T C 3: 89,113,129 (GRCm39) S187P probably damaging Het
Gcc2 G T 10: 58,091,669 (GRCm39) probably benign Het
Gdap2 C A 3: 100,109,572 (GRCm39) probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gpr160 T C 3: 30,950,612 (GRCm39) L228P probably benign Het
Gsdmc2 A C 15: 63,702,715 (GRCm39) V184G probably benign Het
Gtf2e2 A T 8: 34,266,080 (GRCm39) K252M probably damaging Het
Gtf2e2 G T 8: 34,266,081 (GRCm39) K252N probably benign Het
Gys1 T C 7: 45,087,529 (GRCm39) Y102H probably benign Het
H4c2 A G 13: 23,941,209 (GRCm39) D69G probably damaging Het
Ifit3b A C 19: 34,589,598 (GRCm39) D258A probably damaging Het
Itpr3 T A 17: 27,323,575 (GRCm39) M1200K probably damaging Het
Kcng4 A T 8: 120,353,098 (GRCm39) F271I probably damaging Het
Klhdc2 C T 12: 69,350,387 (GRCm39) S144L possibly damaging Het
Lhcgr A G 17: 89,063,006 (GRCm39) F222S probably damaging Het
Lrp5 C G 19: 3,678,299 (GRCm39) G519R probably damaging Het
Magel2 T C 7: 62,028,515 (GRCm39) V473A probably benign Het
Map1a T C 2: 121,134,776 (GRCm39) V1864A possibly damaging Het
Mast4 T A 13: 102,895,242 (GRCm39) Q760H probably damaging Het
Mertk A G 2: 128,613,294 (GRCm39) N437D probably benign Het
Mettl18 G A 1: 163,824,344 (GRCm39) V222I probably benign Het
Mical2 C T 7: 111,934,155 (GRCm39) T782M probably benign Het
Mocos T A 18: 24,819,750 (GRCm39) V664E probably damaging Het
Neb G T 2: 52,185,306 (GRCm39) N975K probably benign Het
Nectin3 A T 16: 46,284,508 (GRCm39) S59T probably benign Het
Nelfb A T 2: 25,093,900 (GRCm39) M11K probably damaging Het
Nrp1 A G 8: 129,202,650 (GRCm39) N545S probably damaging Het
Or10ak11 T C 4: 118,687,478 (GRCm39) D53G probably damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or51b4 T A 7: 103,530,907 (GRCm39) D181V probably damaging Het
Or5b117 A T 19: 13,431,324 (GRCm39) S186T possibly damaging Het
Or5p67 T A 7: 107,922,254 (GRCm39) T210S probably benign Het
Or6c70 A T 10: 129,710,390 (GRCm39) F79I probably damaging Het
Or8g53 T C 9: 39,683,836 (GRCm39) T87A probably benign Het
P3h1 A G 4: 119,103,862 (GRCm39) H587R probably damaging Het
Paqr4 A G 17: 23,958,832 (GRCm39) probably null Het
Pde12 A G 14: 26,390,253 (GRCm39) V152A probably benign Het
Ppip5k1 C A 2: 121,180,972 (GRCm39) E45* probably null Het
Ptch2 C T 4: 116,967,254 (GRCm39) A677V probably benign Het
Rgs12 A G 5: 35,177,689 (GRCm39) N93S probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rnf32 T C 5: 29,408,145 (GRCm39) S125P probably damaging Het
Robo4 A G 9: 37,322,696 (GRCm39) I850V probably damaging Het
Scap T A 9: 110,210,219 (GRCm39) I876N probably damaging Het
Skint5 T C 4: 113,743,005 (GRCm39) E354G unknown Het
Spart A G 3: 55,033,962 (GRCm39) D396G probably benign Het
Spindoc G A 19: 7,351,024 (GRCm39) S311L probably benign Het
Spta1 G T 1: 174,050,894 (GRCm39) R1791L probably damaging Het
Tbck T C 3: 132,507,278 (GRCm39) I750T possibly damaging Het
Tmem191 T C 16: 17,094,334 (GRCm39) probably null Het
Trgv1 A T 13: 19,524,474 (GRCm39) Y66F probably benign Het
Vmn2r125 A G 4: 156,702,292 (GRCm39) Y26C probably damaging Het
Zbtb17 T C 4: 141,192,128 (GRCm39) C358R possibly damaging Het
Zfp180 G A 7: 23,804,859 (GRCm39) G426E probably damaging Het
Zfp445 A G 9: 122,682,951 (GRCm39) V330A probably benign Het
Zfp595 A G 13: 67,465,688 (GRCm39) C192R probably damaging Het
Zkscan4 A G 13: 21,668,623 (GRCm39) H387R probably damaging 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
R4806:Sin3a UTSW 9 56,994,026 (GRCm39) missense probably damaging 0.99
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
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'- CAGAATGACTGGTGTACAAATAAAGTA -3'
(R):5'- GGGGCTTTGAATACTGTGCCG -3'

Sequencing Primer
(F):5'- CAGGTGGCATATGTCTAATCCCAG -3'
(R):5'- GAATACTGTGCCGTATTTGACACG -3'
Posted On 2017-06-26