Incidental Mutation 'R6374:Sin3a'
ID 513701
Institutional Source Beutler Lab
Gene Symbol Sin3a
Ensembl Gene ENSMUSG00000042557
Gene Name transcriptional regulator, SIN3A (yeast)
Synonyms Sin3, mSin3A
MMRRC Submission 044524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6374 (G1)
Quality Score 198.009
Status Validated
Chromosome 9
Chromosomal Location 56979324-57035650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57024765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1042 (T1042A)
Ref Sequence ENSEMBL: ENSMUSP00000126601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049169] [ENSMUST00000167715] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678]
AlphaFold Q60520
Predicted Effect probably benign
Transcript: ENSMUST00000049169
AA Change: T1042A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: T1042A

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: ENSMUST00000167715
AA Change: T1042A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: T1042A

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: ENSMUST00000167963
Predicted Effect probably benign
Transcript: ENSMUST00000168177
AA Change: T1042A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: T1042A

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: T1042A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: T1042A

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: T1042A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: T1042A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 99% (75/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,800 (GRCm39) S293A possibly damaging Het
5430401F13Rik A T 6: 131,529,892 (GRCm39) Q162L unknown Het
Abca8a A T 11: 109,974,216 (GRCm39) Y239* probably null Het
Aox3 T C 1: 58,211,320 (GRCm39) I959T probably benign Het
Atad2b T C 12: 5,068,002 (GRCm39) V1000A probably damaging Het
Atic C T 1: 71,604,100 (GRCm39) T221M probably damaging Het
Atp1a2 C T 1: 172,116,942 (GRCm39) R225H probably damaging Het
BC024139 A G 15: 76,004,657 (GRCm39) probably null Het
Bpi A T 2: 158,113,974 (GRCm39) T291S probably damaging Het
Ccdc170 C T 10: 4,499,746 (GRCm39) Q556* probably null Het
Cd3e G A 9: 44,920,661 (GRCm39) L12F probably benign Het
Cdc42ep1 A T 15: 78,731,649 (GRCm39) R31S probably damaging Het
Cyp21a1 G T 17: 35,023,110 (GRCm39) probably null Het
Dnase1l3 A G 14: 7,974,115 (GRCm38) M192T probably damaging Het
Dnmt1 A T 9: 20,835,341 (GRCm39) H330Q possibly damaging Het
Enah T C 1: 181,751,145 (GRCm39) E232G unknown Het
Etnppl C T 3: 130,414,342 (GRCm39) T73I probably damaging Het
Fam83b T A 9: 76,400,189 (GRCm39) I305F probably benign Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Gm19965 T A 1: 116,750,021 (GRCm39) N567K probably benign Het
Golga1 T C 2: 38,924,080 (GRCm39) Q435R probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hao1 T G 2: 134,365,024 (GRCm39) D201A probably benign Het
Heg1 T C 16: 33,547,499 (GRCm39) L786P possibly damaging Het
Hnrnpll A T 17: 80,357,303 (GRCm39) C238S possibly damaging Het
Hrg A G 16: 22,779,742 (GRCm39) Y340C probably damaging Het
Kyat3 A T 3: 142,443,998 (GRCm39) I411F probably damaging Het
Myo1a T C 10: 127,543,549 (GRCm39) Y202H probably damaging Het
Nags T C 11: 102,037,337 (GRCm39) C143R possibly damaging Het
Ncoa6 T C 2: 155,263,076 (GRCm39) N453D probably damaging Het
Nup35 G T 2: 80,488,730 (GRCm39) M322I probably benign Het
Oprl1 T C 2: 181,357,721 (GRCm39) V69A probably damaging Het
Or51v14 A G 7: 103,261,128 (GRCm39) L144P probably benign Het
Pappa2 T A 1: 158,784,215 (GRCm39) Y265F probably damaging Het
Pcsk6 C T 7: 65,629,903 (GRCm39) P343L possibly damaging Het
Peak1 C A 9: 56,164,950 (GRCm39) D993Y probably damaging Het
Polr2a T C 11: 69,627,758 (GRCm39) Y1383C probably damaging Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Prom1 C T 5: 44,213,325 (GRCm39) C127Y probably damaging Het
Ptpn6 A T 6: 124,709,532 (GRCm39) probably null Het
Reln T C 5: 22,285,712 (GRCm39) E419G probably benign Het
Rnf32 C T 5: 29,430,266 (GRCm39) Q362* probably null Het
Sbspon T C 1: 15,953,887 (GRCm39) D131G probably benign Het
Scyl3 T C 1: 163,776,783 (GRCm39) S392P probably benign Het
Shtn1 T A 19: 59,026,728 (GRCm39) D121V possibly damaging Het
Sipa1l2 A T 8: 126,171,369 (GRCm39) V1371D probably damaging Het
Slc20a2 T C 8: 23,055,668 (GRCm39) V584A possibly damaging Het
Smc6 T A 12: 11,355,874 (GRCm39) probably null Het
Spata31h1 T A 10: 82,124,731 (GRCm39) probably benign Het
Specc1 C T 11: 62,047,418 (GRCm39) T849I possibly damaging Het
Spta1 T A 1: 174,041,734 (GRCm39) L1368H probably damaging Het
Sqle A G 15: 59,187,959 (GRCm39) E89G possibly damaging Het
Strbp A G 2: 37,493,020 (GRCm39) V422A probably damaging Het
Sult6b1 G T 17: 79,214,360 (GRCm39) T21K probably benign Het
Tex15 A G 8: 34,065,940 (GRCm39) E1790G probably damaging Het
Tmem88b T A 4: 155,870,221 (GRCm39) probably benign Het
Traf3ip3 T C 1: 192,864,318 (GRCm39) D355G possibly damaging Het
Trim24 T A 6: 37,930,484 (GRCm39) V576E probably benign Het
Trim30c C T 7: 104,039,609 (GRCm39) G62D probably benign Het
Trim66 T G 7: 109,085,269 (GRCm39) K100N probably benign Het
Tsnaxip1 A T 8: 106,568,172 (GRCm39) T313S possibly damaging Het
Ugt2b37 A T 5: 87,390,279 (GRCm39) I389N probably damaging Het
Unc13a C T 8: 72,094,097 (GRCm39) V1335M possibly damaging Het
Urah A G 7: 140,415,124 (GRCm39) T5A probably benign Het
Usp34 T C 11: 23,388,914 (GRCm39) Y2185H probably damaging Het
Usp44 T C 10: 93,692,172 (GRCm39) S643P probably benign Het
Vars2 A G 17: 35,970,937 (GRCm39) V631A probably damaging Het
Vmn2r11 G A 5: 109,201,679 (GRCm39) T275I possibly damaging Het
Vmn2r54 C A 7: 12,349,420 (GRCm39) V721F probably damaging Het
Vmn2r79 T C 7: 86,651,498 (GRCm39) I299T probably benign Het
Vps13d T C 4: 144,849,251 (GRCm39) T2387A probably damaging Het
Washc5 A T 15: 59,209,044 (GRCm39) L610Q probably benign Het
Zbtb21 T C 16: 97,751,568 (GRCm39) E905G probably damaging Het
Zfhx4 A G 3: 5,309,095 (GRCm39) T774A probably damaging Het
Zfp534 T C 4: 147,759,299 (GRCm39) I457V probably benign Het
Zfp964 T C 8: 70,111,994 (GRCm39) Y29H possibly damaging Het
Znrf4 A G 17: 56,818,702 (GRCm39) F202L 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
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
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'- CATTCCAACATGGTTCACAGG -3'
(R):5'- GGTTGCTCAGGTTACATGGC -3'

Sequencing Primer
(F):5'- CCAACATGGTTCACAGGGTAATTG -3'
(R):5'- GCTCAGGTTACATGGCTCACAC -3'
Posted On 2018-04-27