Incidental Mutation 'R4980:Sap130'
ID 384782
Institutional Source Beutler Lab
Gene Symbol Sap130
Ensembl Gene ENSMUSG00000024260
Gene Name Sin3A associated protein
Synonyms 2610304F09Rik
MMRRC Submission 042575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R4980 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 31767424-31856114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31782699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 203 (H203Q)
Ref Sequence ENSEMBL: ENSMUSP00000136842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025109] [ENSMUST00000178164]
AlphaFold Q8BIH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025109
AA Change: H203Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: H203Q

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 possibly damaging
Transcript: ENSMUST00000178164
AA Change: H203Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: H203Q

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,292 (GRCm39) C189S probably damaging Het
Abcd3 A T 3: 121,562,917 (GRCm39) probably null Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Amhr2 T A 15: 102,362,765 (GRCm39) S511T probably benign Het
Atg16l1 T C 1: 87,694,553 (GRCm39) S77P possibly damaging Het
Bltp1 T C 3: 36,997,461 (GRCm39) S1173P probably damaging Het
Cacna1i T C 15: 80,232,650 (GRCm39) F218L probably damaging Het
Cd5l A T 3: 87,274,908 (GRCm39) H149L probably benign Het
Cdc14a T A 3: 116,186,506 (GRCm39) R92* probably null Het
Col19a1 T C 1: 24,565,564 (GRCm39) T256A unknown Het
Col22a1 C T 15: 71,673,792 (GRCm39) A975T unknown Het
Cracd A T 5: 77,005,421 (GRCm39) D594V unknown Het
Cyp20a1 T C 1: 60,402,373 (GRCm39) W153R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpyd T C 3: 118,710,767 (GRCm39) S392P probably damaging Het
Dst A T 1: 34,295,369 (GRCm39) L957F probably damaging Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fbn2 T C 18: 58,143,703 (GRCm39) E2784G probably benign Het
Fbxw10 T C 11: 62,738,583 (GRCm39) I159T possibly damaging Het
Fgfr2 T C 7: 129,802,810 (GRCm39) Y192C probably damaging Het
Gm7298 A G 6: 121,736,198 (GRCm39) probably null Het
Igf2r C T 17: 12,922,247 (GRCm39) probably null Het
Ints4 T C 7: 97,151,057 (GRCm39) probably null Het
Kcnf1 A G 12: 17,225,012 (GRCm39) F403S possibly damaging Het
Kif11 C T 19: 37,375,819 (GRCm39) Q211* probably null Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Kifc3 T A 8: 95,853,177 (GRCm39) T60S probably benign Het
Krt82 T C 15: 101,453,534 (GRCm39) D284G possibly damaging Het
Lancl1 T C 1: 67,043,968 (GRCm39) Y344C probably benign Het
Ltbp3 A T 19: 5,803,955 (GRCm39) probably null Het
Map3k4 A G 17: 12,490,958 (GRCm39) F158L probably damaging Het
Mast2 A G 4: 116,174,948 (GRCm39) Y469H probably damaging Het
Mcf2l T G 8: 13,034,883 (GRCm39) F97C probably damaging Het
Mpeg1 T C 19: 12,438,904 (GRCm39) S121P probably damaging Het
Mycbp2 A T 14: 103,497,821 (GRCm39) probably null Het
Myt1l A T 12: 29,877,038 (GRCm39) T230S unknown Het
Naa15 T C 3: 51,366,173 (GRCm39) probably null Het
Nans G A 4: 46,492,764 (GRCm39) R64Q probably benign Het
Nbea C T 3: 55,554,772 (GRCm39) probably null Het
Nbea T C 3: 55,860,466 (GRCm39) E1870G probably benign Het
Ncapd3 T C 9: 26,974,591 (GRCm39) S688P probably damaging Het
Nedd4l G T 18: 65,213,131 (GRCm39) E96* probably null Het
Or56a5 T A 7: 104,793,431 (GRCm39) Y23F probably benign Het
Or5b21 A T 19: 12,839,384 (GRCm39) M82L probably benign Het
Pdxk A G 10: 78,287,318 (GRCm39) L81P probably damaging Het
Plec T A 15: 76,077,495 (GRCm39) R269* probably null Het
Plec T C 15: 76,090,065 (GRCm39) I92V probably damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppp2r2c A T 5: 37,109,732 (GRCm39) M364L probably benign Het
Prag1 A C 8: 36,606,740 (GRCm39) H827P probably damaging Het
Ptprg A G 14: 12,154,421 (GRCm38) N714S probably benign Het
Rbp2 G A 9: 98,380,894 (GRCm39) V67I probably benign Het
Rictor T A 15: 6,811,141 (GRCm39) Y835N probably damaging Het
Ripply2 A G 9: 86,901,747 (GRCm39) Q91R probably damaging Het
Sema4d T C 13: 51,865,270 (GRCm39) Y358C probably damaging Het
Serbp1 G A 6: 67,254,872 (GRCm39) D294N probably benign Het
Slc16a10 A G 10: 39,956,801 (GRCm39) W113R probably damaging Het
Slc6a6 A G 6: 91,703,041 (GRCm39) Y138C probably damaging Het
Spag11a T C 8: 19,207,962 (GRCm39) M1T probably null Het
Spata20 T C 11: 94,375,435 (GRCm39) M120V probably damaging Het
Stk32a A C 18: 43,447,113 (GRCm39) K357Q probably benign Het
Tasor T A 14: 27,183,382 (GRCm39) L614I probably benign Het
Trmo A T 4: 46,389,364 (GRCm39) C10* probably null Het
Tsc22d1 T G 14: 76,655,696 (GRCm39) V643G probably benign Het
Vangl2 A T 1: 171,837,132 (GRCm39) L226I probably damaging Het
Vps35l T A 7: 118,406,232 (GRCm39) D605E probably damaging Het
Wnt3a A T 11: 59,140,626 (GRCm39) C297S probably damaging Het
Wwc1 T C 11: 35,778,930 (GRCm39) K301E possibly damaging Het
Zfhx4 C T 3: 5,464,039 (GRCm39) T1399I possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
R1484:Sap130 UTSW 18 31,844,380 (GRCm39) missense probably damaging 1.00
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
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'- CAGCCTGACCCAGTTTGAAG -3'
(R):5'- TCTCTTCCTTAGATGTGCACAGAC -3'

Sequencing Primer
(F):5'- GCAAACTGACTTTCTGTAGGC -3'
(R):5'- CCTTAGATGTGCACAGACGTGTTC -3'
Posted On 2016-05-10