Incidental Mutation 'R1484:Sap130'
ID 163358
Institutional Source Beutler Lab
Gene Symbol Sap130
Ensembl Gene ENSMUSG00000024260
Gene Name Sin3A associated protein
Synonyms 2610304F09Rik
MMRRC Submission 039537-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1484 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 31767424-31856114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31844380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 850 (V850E)
Ref Sequence ENSEMBL: ENSMUSP00000025109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025109] [ENSMUST00000178164]
AlphaFold Q8BIH0
Predicted Effect probably damaging
Transcript: ENSMUST00000025109
AA Change: V850E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: V850E

DomainStartEndE-ValueType
low complexity region 82 107 N/A INTRINSIC
low complexity region 115 124 N/A INTRINSIC
low complexity region 347 356 N/A INTRINSIC
low complexity region 389 400 N/A INTRINSIC
low complexity region 577 588 N/A INTRINSIC
low complexity region 716 748 N/A INTRINSIC
low complexity region 751 770 N/A INTRINSIC
low complexity region 817 832 N/A INTRINSIC
low complexity region 894 904 N/A INTRINSIC
low complexity region 1044 1056 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178164
AA Change: V851E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: V851E

DomainStartEndE-ValueType
low complexity region 82 107 N/A INTRINSIC
low complexity region 115 124 N/A INTRINSIC
low complexity region 347 356 N/A INTRINSIC
low complexity region 389 400 N/A INTRINSIC
low complexity region 577 588 N/A INTRINSIC
Pfam:SAP130_C 635 1040 5.4e-224 PFAM
low complexity region 1045 1057 N/A INTRINSIC
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (85/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A T 5: 26,684,776 (GRCm39) noncoding transcript Het
Acvr1 A T 2: 58,369,901 (GRCm39) V36E probably damaging Het
Aldh4a1 A G 4: 139,370,758 (GRCm39) I414V probably benign Het
Alox5 C T 6: 116,431,128 (GRCm39) C100Y probably damaging Het
Ano5 T A 7: 51,216,068 (GRCm39) D348E probably damaging Het
Arhgap30 G A 1: 171,230,839 (GRCm39) V199M probably damaging Het
Arl13b T A 16: 62,626,999 (GRCm39) Q234L probably benign Het
Atxn1 C A 13: 45,711,052 (GRCm39) E627* probably null Het
Bend3 T C 10: 43,386,197 (GRCm39) F197L probably benign Het
Brca1 A T 11: 101,420,638 (GRCm39) V190E possibly damaging Het
Brpf1 T C 6: 113,292,096 (GRCm39) W381R probably damaging Het
Brwd1 A C 16: 95,829,491 (GRCm39) probably null Het
C1s2 T C 6: 124,602,604 (GRCm39) I530V possibly damaging Het
C2cd3 C T 7: 100,089,397 (GRCm39) R1638W probably damaging Het
Capns1 T A 7: 29,893,511 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep126 G A 9: 8,100,554 (GRCm39) T660I possibly damaging Het
Cep295 A C 9: 15,246,080 (GRCm39) I744R probably damaging Het
Chd3 T C 11: 69,250,725 (GRCm39) E668G probably benign Het
Chek2 A G 5: 110,996,553 (GRCm39) T172A probably damaging Het
Col6a4 A G 9: 105,890,501 (GRCm39) probably null Het
Coq3 G A 4: 21,900,291 (GRCm39) V173I probably benign Het
Cyp4x1 A T 4: 114,970,098 (GRCm39) I343N probably damaging Het
Dnah7b T A 1: 46,176,703 (GRCm39) D774E probably benign Het
Dnai3 T C 3: 145,802,996 (GRCm39) D65G probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Esrra T C 19: 6,890,197 (GRCm39) Y209C probably damaging Het
Gpr149 A T 3: 62,502,592 (GRCm39) D421E probably benign Het
Gpr15 T C 16: 58,538,937 (GRCm39) N51D probably damaging Het
Gpr156 T C 16: 37,812,558 (GRCm39) V298A probably damaging Het
Hmcn2 G A 2: 31,236,507 (GRCm39) G350D probably damaging Het
Ifih1 A T 2: 62,440,902 (GRCm39) N421K probably benign Het
Ilvbl C A 10: 78,412,564 (GRCm39) T95K probably damaging Het
Itgb4 T A 11: 115,890,625 (GRCm39) D1104E probably benign Het
Katnip C A 7: 125,415,743 (GRCm39) probably benign Het
Lipf A T 19: 33,942,180 (GRCm39) M37L probably benign Het
Lyst T A 13: 13,852,775 (GRCm39) N2258K probably benign Het
Moxd1 A G 10: 24,099,758 (GRCm39) Y86C probably damaging Het
Muc5ac T C 7: 141,367,629 (GRCm39) probably null Het
Myo16 G A 8: 10,610,145 (GRCm39) R1162H probably damaging Het
Myo5c A T 9: 75,208,092 (GRCm39) N1609Y probably damaging Het
Nbeal1 T C 1: 60,240,098 (GRCm39) F155L probably damaging Het
Nek4 A T 14: 30,704,290 (GRCm39) M602L possibly damaging Het
Nek9 A G 12: 85,348,622 (GRCm39) S971P probably damaging Het
Nfya A T 17: 48,700,570 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,547 (GRCm39) N442I probably damaging Het
Nup42 A C 5: 24,383,075 (GRCm39) K200N probably benign Het
Or1e26 T A 11: 73,480,187 (GRCm39) I126L possibly damaging Het
Or4c111 G A 2: 88,843,713 (GRCm39) R232* probably null Het
Or7g32 G A 9: 19,389,423 (GRCm39) T38I probably damaging Het
Pcdh15 T A 10: 74,126,833 (GRCm39) I304N probably damaging Het
Pigo G C 4: 43,024,779 (GRCm39) P107A probably damaging Het
Plce1 C T 19: 38,693,783 (GRCm39) Q769* probably null Het
Plin2 C T 4: 86,575,481 (GRCm39) R356H probably benign Het
Ppp1r9a G T 6: 5,113,712 (GRCm39) E739* probably null Het
Ppp3cc G T 14: 70,478,397 (GRCm39) N268K probably damaging Het
Prkag3 T A 1: 74,779,919 (GRCm39) D472V probably damaging Het
Ptch2 A T 4: 116,968,046 (GRCm39) D846V probably damaging Het
Rhob A T 12: 8,549,388 (GRCm39) M82K probably damaging Het
Rps6kc1 T A 1: 190,531,672 (GRCm39) R777W possibly damaging Het
Sema3a T G 5: 13,523,407 (GRCm39) N125K probably damaging Het
Sema5a A G 15: 32,460,431 (GRCm39) D64G probably damaging Het
Sgo2b T A 8: 64,384,507 (GRCm39) D163V possibly damaging Het
Slc15a1 A T 14: 121,728,651 (GRCm39) Y31* probably null Het
Smchd1 A T 17: 71,685,252 (GRCm39) M1392K probably benign Het
Sobp T A 10: 43,036,827 (GRCm39) N37I probably damaging Het
Spock3 G T 8: 63,673,739 (GRCm39) C142F probably damaging Het
Stx6 A C 1: 155,053,650 (GRCm39) S86R probably benign Het
Sult2a4 C A 7: 13,643,726 (GRCm39) M280I probably benign Het
Synm A T 7: 67,386,080 (GRCm39) D527E probably damaging Het
Tax1bp1 C T 6: 52,710,305 (GRCm39) R195W probably damaging Het
Themis2 A T 4: 132,519,796 (GRCm39) N76K possibly damaging Het
Tmem8b A G 4: 43,690,234 (GRCm39) T890A probably benign Het
Traf7 T A 17: 24,730,785 (GRCm39) H366L possibly damaging Het
Trim30c A T 7: 104,032,459 (GRCm39) V289D probably benign Het
Tsr1 T A 11: 74,792,914 (GRCm39) D407E probably damaging Het
Ubap2 G T 4: 41,235,593 (GRCm39) A33E probably damaging Het
Unc13d C A 11: 115,964,701 (GRCm39) R255L possibly damaging Het
Ush2a G T 1: 188,542,534 (GRCm39) G3367* probably null Het
Vmn1r229 T C 17: 21,034,791 (GRCm39) L12P probably damaging Het
Vmn2r27 C A 6: 124,177,474 (GRCm39) G510V probably damaging Het
Vps4b T C 1: 106,707,712 (GRCm39) E257G probably damaging Het
Vps72 T C 3: 95,026,462 (GRCm39) S136P probably damaging Het
Wdr36 T C 18: 32,976,938 (GRCm39) I181T possibly damaging Het
Wfikkn1 C T 17: 26,096,765 (GRCm39) A520T probably benign Het
Other mutations in Sap130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Sap130 APN 18 31,831,819 (GRCm39) missense probably benign 0.00
IGL01060:Sap130 APN 18 31,848,496 (GRCm39) missense probably damaging 1.00
IGL01668:Sap130 APN 18 31,813,493 (GRCm39) missense probably damaging 0.97
IGL01797:Sap130 APN 18 31,831,721 (GRCm39) missense probably damaging 0.98
IGL01872:Sap130 APN 18 31,807,473 (GRCm39) missense probably damaging 0.98
IGL02010:Sap130 APN 18 31,782,655 (GRCm39) missense probably damaging 0.98
Beggar UTSW 18 31,781,182 (GRCm39) splice site probably null
PIT4142001:Sap130 UTSW 18 31,800,064 (GRCm39) critical splice donor site probably null
PIT4366001:Sap130 UTSW 18 31,810,462 (GRCm39) missense probably benign 0.06
R0083:Sap130 UTSW 18 31,844,694 (GRCm39) missense probably damaging 1.00
R0083:Sap130 UTSW 18 31,799,382 (GRCm39) splice site probably benign
R0243:Sap130 UTSW 18 31,813,734 (GRCm39) splice site probably benign
R0255:Sap130 UTSW 18 31,813,559 (GRCm39) missense probably damaging 1.00
R0704:Sap130 UTSW 18 31,786,607 (GRCm39) missense probably damaging 0.99
R1069:Sap130 UTSW 18 31,844,682 (GRCm39) missense probably damaging 0.96
R1086:Sap130 UTSW 18 31,783,673 (GRCm39) splice site probably benign
R1162:Sap130 UTSW 18 31,781,226 (GRCm39) missense probably damaging 1.00
R1478:Sap130 UTSW 18 31,813,527 (GRCm39) missense possibly damaging 0.95
R1554:Sap130 UTSW 18 31,799,525 (GRCm39) missense probably damaging 0.99
R1625:Sap130 UTSW 18 31,807,517 (GRCm39) missense probably damaging 0.99
R1771:Sap130 UTSW 18 31,769,135 (GRCm39) missense probably benign 0.10
R1793:Sap130 UTSW 18 31,831,640 (GRCm39) missense probably benign 0.10
R1905:Sap130 UTSW 18 31,813,620 (GRCm39) missense possibly damaging 0.67
R2026:Sap130 UTSW 18 31,831,627 (GRCm39) missense possibly damaging 0.81
R2074:Sap130 UTSW 18 31,781,332 (GRCm39) missense probably damaging 0.99
R2174:Sap130 UTSW 18 31,810,532 (GRCm39) critical splice donor site probably null
R3927:Sap130 UTSW 18 31,807,435 (GRCm39) missense possibly damaging 0.95
R4454:Sap130 UTSW 18 31,844,413 (GRCm39) missense probably damaging 1.00
R4980:Sap130 UTSW 18 31,782,699 (GRCm39) missense possibly damaging 0.95
R5222:Sap130 UTSW 18 31,799,756 (GRCm39) missense probably damaging 1.00
R5345:Sap130 UTSW 18 31,781,251 (GRCm39) missense probably benign 0.32
R5811:Sap130 UTSW 18 31,822,495 (GRCm39) missense probably benign 0.01
R6034:Sap130 UTSW 18 31,822,459 (GRCm39) missense possibly damaging 0.92
R6034:Sap130 UTSW 18 31,822,459 (GRCm39) missense possibly damaging 0.92
R6038:Sap130 UTSW 18 31,813,539 (GRCm39) missense probably damaging 0.99
R6038:Sap130 UTSW 18 31,813,539 (GRCm39) missense probably damaging 0.99
R6129:Sap130 UTSW 18 31,815,144 (GRCm39) missense possibly damaging 0.94
R6431:Sap130 UTSW 18 31,799,418 (GRCm39) missense possibly damaging 0.95
R6930:Sap130 UTSW 18 31,815,141 (GRCm39) missense possibly damaging 0.94
R6932:Sap130 UTSW 18 31,799,407 (GRCm39) missense possibly damaging 0.88
R7454:Sap130 UTSW 18 31,783,565 (GRCm39) missense probably benign 0.01
R7510:Sap130 UTSW 18 31,844,268 (GRCm39) missense probably damaging 0.99
R7510:Sap130 UTSW 18 31,800,057 (GRCm39) missense probably damaging 1.00
R7641:Sap130 UTSW 18 31,786,676 (GRCm39) missense probably damaging 0.99
R7870:Sap130 UTSW 18 31,853,714 (GRCm39) missense probably benign 0.15
R7980:Sap130 UTSW 18 31,781,182 (GRCm39) splice site probably null
R8772:Sap130 UTSW 18 31,813,517 (GRCm39) missense probably damaging 1.00
R9135:Sap130 UTSW 18 31,780,116 (GRCm39) missense probably benign
R9639:Sap130 UTSW 18 31,844,789 (GRCm39) critical splice donor site probably null
X0021:Sap130 UTSW 18 31,780,129 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAAGTGACGCCTTCCAGTGTG -3'
(R):5'- GGGTTCCGATAGTGACGTAGCAAAG -3'

Sequencing Primer
(F):5'- CCAGTGTGCTCATTGGTGTG -3'
(R):5'- TCCTCATCTGTTCAAAAGAGGAAAGG -3'
Posted On 2014-03-28