Incidental Mutation 'R3004:Sin3a'
ID 257396
Institutional Source Beutler Lab
Gene Symbol Sin3a
Ensembl Gene ENSMUSG00000042557
Gene Name transcriptional regulator, SIN3A (yeast)
Synonyms Sin3, mSin3A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3004 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 56979324-57035650 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 57004118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 290 (L290*)
Ref Sequence ENSEMBL: ENSMUSP00000126601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049169] [ENSMUST00000163400] [ENSMUST00000167715] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678]
AlphaFold Q60520
Predicted Effect probably null
Transcript: ENSMUST00000049169
AA Change: L290*
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: L290*

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 null
Transcript: ENSMUST00000167715
AA Change: L290*
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: L290*

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 null
Transcript: ENSMUST00000168177
AA Change: L290*
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: L290*

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 null
Transcript: ENSMUST00000168502
AA Change: L290*
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: L290*

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 null
Transcript: ENSMUST00000168678
AA Change: L290*
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: L290*

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 80,753,103 (GRCm39) W1553* probably null Het
Art2a T C 7: 101,203,972 (GRCm39) I189V probably benign Het
BC049715 A G 6: 136,816,790 (GRCm39) E10G possibly damaging Het
Ccdc158 A G 5: 92,796,929 (GRCm39) L469P probably damaging Het
Cspg4b T C 13: 113,502,688 (GRCm39) F131S probably damaging Het
Ctsm T C 13: 61,687,682 (GRCm39) I59V possibly damaging Het
Daam2 A G 17: 49,767,682 (GRCm39) F970L probably damaging Het
Gm21903 A T 17: 39,353,547 (GRCm39) probably benign Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
H2bc7 G A 13: 23,758,355 (GRCm39) probably benign Het
Hoxd10 T A 2: 74,522,706 (GRCm39) V128D probably benign Het
Ighv5-9 T C 12: 113,625,567 (GRCm39) T59A probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Npc1 A G 18: 12,330,311 (GRCm39) F947L probably benign Het
Or1ak2 T A 2: 36,827,221 (GRCm39) I30N possibly damaging Het
Or56b1b G T 7: 108,164,151 (GRCm39) H284N probably benign Het
Piezo2 G T 18: 63,157,506 (GRCm39) Y223* probably null Het
Rhog A T 7: 101,889,345 (GRCm39) V36E probably damaging Het
Sbno1 G A 5: 124,519,771 (GRCm39) T1168I probably damaging Het
Slco1c1 G T 6: 141,478,380 (GRCm39) A48S probably damaging Het
Slfn9 A T 11: 82,872,590 (GRCm39) S715R possibly damaging Het
Sox17 T C 1: 4,562,840 (GRCm39) E120G 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
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'- GAAGTTTCTTCCCCAATGTCAAAC -3'
(R):5'- AACTTTCTGGGCAGCAACC -3'

Sequencing Primer
(F):5'- TTCCCCAATGTCAAACCACTTATG -3'
(R):5'- TTGGCCCTGGAATCTGTT -3'
Posted On 2015-01-11