Incidental Mutation 'R2037:Sin3a'
ID 224794
Institutional Source Beutler Lab
Gene Symbol Sin3a
Ensembl Gene ENSMUSG00000042557
Gene Name transcriptional regulator, SIN3A (yeast)
Synonyms Sin3, mSin3A
MMRRC Submission 040044-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2037 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 56979324-57035650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57004109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 287 (T287I)
Ref Sequence ENSEMBL: ENSMUSP00000126601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049169] [ENSMUST00000163400] [ENSMUST00000167715] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678]
AlphaFold Q60520
Predicted Effect probably benign
Transcript: ENSMUST00000049169
AA Change: T287I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: T287I

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 probably benign
Transcript: ENSMUST00000163400
SMART Domains Protein: ENSMUSP00000126718
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
Pfam:PAH 82 128 2.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165927
Predicted Effect probably benign
Transcript: ENSMUST00000167715
AA Change: T287I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: T287I

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: ENSMUST00000168177
AA Change: T287I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: T287I

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 benign
Transcript: ENSMUST00000168502
AA Change: T287I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: T287I

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: ENSMUST00000168678
AA Change: T287I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: T287I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,980,810 (GRCm39) probably null Het
AI987944 T C 7: 41,023,815 (GRCm39) Y391C probably benign Het
Ankfn1 A T 11: 89,346,946 (GRCm39) S296T probably benign Het
Apob A G 12: 8,057,488 (GRCm39) D1957G probably benign Het
Baz1a G T 12: 54,976,431 (GRCm39) P415Q probably damaging Het
Brca2 T A 5: 150,464,134 (GRCm39) H1299Q probably benign Het
C7 G T 15: 5,063,720 (GRCm39) S227* probably null Het
Catsperb A T 12: 101,474,221 (GRCm39) R306S probably damaging Het
Cbx3 T A 6: 51,448,793 (GRCm39) probably null Het
Ccnt2 A G 1: 127,731,136 (GRCm39) Y671C probably damaging Het
Crocc A G 4: 140,774,253 (GRCm39) probably null Het
Ctr9 G A 7: 110,646,014 (GRCm39) V669I probably benign Het
Dck T G 5: 88,920,576 (GRCm39) Y99D probably damaging Het
Ddx52 T A 11: 83,835,432 (GRCm39) D119E probably benign Het
Dnah10 A T 5: 124,823,768 (GRCm39) K596N probably benign Het
Dnah7a A T 1: 53,621,741 (GRCm39) V1128E probably benign Het
Dph1 A T 11: 75,076,679 (GRCm39) probably null Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Enthd1 A G 15: 80,444,550 (GRCm39) S2P possibly damaging Het
Erc1 A C 6: 119,699,216 (GRCm39) V802G possibly damaging Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Fam169a C A 13: 97,243,600 (GRCm39) A210E probably benign Het
Fcmr A G 1: 130,806,070 (GRCm39) D342G possibly damaging Het
Fgfr4 T G 13: 55,315,702 (GRCm39) V743G possibly damaging Het
Fsip2 A G 2: 82,808,856 (GRCm39) D1725G probably damaging Het
Heatr5b A T 17: 79,136,934 (GRCm39) C195* probably null Het
Herc2 G A 7: 55,855,709 (GRCm39) A3882T probably damaging Het
Il20 T A 1: 130,836,115 (GRCm39) N143Y probably damaging Het
Inpp5b A G 4: 124,692,092 (GRCm39) S892G probably damaging Het
Ipo13 A T 4: 117,761,858 (GRCm39) Y447* probably null Het
Itprid1 A G 6: 55,874,860 (GRCm39) N270S probably benign Het
Kbtbd12 A T 6: 88,594,779 (GRCm39) N350K probably benign Het
Kiz T C 2: 146,811,880 (GRCm39) F663S probably damaging Het
Matn2 A G 15: 34,433,263 (GRCm39) D870G probably benign Het
Methig1 C T 15: 100,251,467 (GRCm39) A126V probably benign Het
Mme A G 3: 63,235,681 (GRCm39) D209G probably null Het
Mroh4 A G 15: 74,481,610 (GRCm39) F811L possibly damaging Het
Myo9b G T 8: 71,743,510 (GRCm39) K190N probably damaging Het
Ncf1 T C 5: 134,258,406 (GRCm39) I6V probably damaging Het
Nmt2 T C 2: 3,310,618 (GRCm39) F121L probably damaging Het
Nol10 A G 12: 17,411,152 (GRCm39) D183G probably benign Het
Nsun7 T C 5: 66,418,429 (GRCm39) V53A probably benign Het
Or10u4 T C 10: 129,802,009 (GRCm39) I187V probably benign Het
Or8j3 T C 2: 86,028,176 (GRCm39) S307G probably benign Het
Or8k22 T C 2: 86,162,774 (GRCm39) N309D probably benign Het
Pappa2 A T 1: 158,784,214 (GRCm39) Y265* probably null Het
Pigg G A 5: 108,486,518 (GRCm39) A724T probably damaging Het
Pik3r4 C T 9: 105,527,534 (GRCm39) R296C probably benign Het
Pkhd1l1 A G 15: 44,431,617 (GRCm39) probably null Het
Pld4 A G 12: 112,734,992 (GRCm39) D483G probably damaging Het
Ppip5k1 C T 2: 121,173,674 (GRCm39) R399H probably damaging Het
Qrfpr A T 3: 36,236,806 (GRCm39) H198Q probably damaging Het
Rasgrf2 A T 13: 92,050,748 (GRCm39) D883E probably damaging Het
Retnlg T C 16: 48,694,615 (GRCm39) C88R probably damaging Het
Slc44a1 GCC GCCCCC 4: 53,563,243 (GRCm39) probably benign Het
Sppl2c G C 11: 104,077,307 (GRCm39) V36L probably benign Het
Srp72 T A 5: 77,124,338 (GRCm39) I68N probably damaging Het
Srrm3 T A 5: 135,883,231 (GRCm39) S195R probably damaging Het
Srrm4 T A 5: 116,605,887 (GRCm39) probably benign Het
Ssb A G 2: 69,699,163 (GRCm39) S199G probably benign Het
Sult2a6 T A 7: 13,988,634 (GRCm39) Y42F probably damaging Het
Syne2 A G 12: 76,072,343 (GRCm39) T120A probably benign Het
Tas1r1 A G 4: 152,112,627 (GRCm39) F809L probably damaging Het
Tead3 A G 17: 28,555,544 (GRCm39) S117P probably damaging Het
Tefm C T 11: 80,031,056 (GRCm39) R60H probably damaging Het
Tmem104 G A 11: 115,092,221 (GRCm39) R110H possibly damaging Het
Tnxb G A 17: 34,918,179 (GRCm39) G2364D probably damaging Het
Vmn1r211 T A 13: 23,036,134 (GRCm39) I178F probably damaging Het
Vmn1r6 A T 6: 56,980,109 (GRCm39) Y235F probably damaging Het
Xrcc5 C A 1: 72,385,529 (GRCm39) T540K probably benign 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
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
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'- TGGCCCTAAATGAGTAAAAGATGTG -3'
(R):5'- AAACTTTCTGGGCAGCAACC -3'

Sequencing Primer
(F):5'- TAAATGAGTAAAAGATGTGACTTGGG -3'
(R):5'- CCCTGGAATCTGTTCTTG -3'
Posted On 2014-08-25