Incidental Mutation 'IGL03156:Sap30l'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sap30l
Ensembl Gene ENSMUSG00000020519
Gene NameSAP30-like
Synonyms2310079P12Rik, L55
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.338) question?
Stock #IGL03156
Quality Score
Chromosomal Location57801637-57810217 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 57806168 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020826]
Predicted Effect probably null
Transcript: ENSMUST00000020826
SMART Domains Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519

low complexity region 14 22 N/A INTRINSIC
Pfam:zf-SAP30 23 94 4.5e-40 PFAM
Pfam:SAP30_Sin3_bdg 113 165 7.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152790
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik A T 19: 11,105,750 I102K possibly damaging Het
4930430A15Rik T C 2: 111,200,412 D12G possibly damaging Het
Abca16 T C 7: 120,423,851 I70T possibly damaging Het
Acot11 A G 4: 106,754,136 Y365H probably damaging Het
Bdp1 A G 13: 100,061,036 V947A probably benign Het
Ccdc159 G T 9: 21,929,475 V113L probably benign Het
Cep350 T C 1: 155,858,042 D3035G probably damaging Het
Clca1 T A 3: 145,013,911 I433F probably damaging Het
Cntn5 T C 9: 9,673,877 Y740C probably damaging Het
Dennd5a C A 7: 109,919,255 probably benign Het
Des G A 1: 75,362,996 E333K probably damaging Het
Dnah7a T C 1: 53,605,824 R1018G probably damaging Het
Eif2b2 G T 12: 85,219,721 A54S probably damaging Het
Gm7276 C T 18: 77,185,603 probably benign Het
Hsbp1l1 A G 18: 80,235,519 probably benign Het
Iars G A 13: 49,703,179 G303S possibly damaging Het
Il18r1 A G 1: 40,498,368 E431G possibly damaging Het
Lrrc14b A G 13: 74,363,904 V19A probably benign Het
Map1lc3a T A 2: 155,277,009 I31N probably damaging Het
Obscn T C 11: 59,054,896 Y4163C probably damaging Het
Olfr478 T A 7: 108,032,351 probably benign Het
Pcsk1 A G 13: 75,131,951 T632A probably benign Het
Ppp1r15a A G 7: 45,525,171 L71P possibly damaging Het
Ptgs2 T G 1: 150,105,477 F504V probably damaging Het
Rimbp2 T G 5: 128,771,757 R908S probably damaging Het
Rnh1 T C 7: 141,163,183 N268S probably damaging Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Serpina12 T C 12: 104,037,899 Y158C probably damaging Het
Tmem237 A T 1: 59,109,127 D148E probably damaging Het
Trmt13 T C 3: 116,585,802 D232G probably benign Het
Zan T A 5: 137,463,939 T993S unknown Het
Zfp236 G A 18: 82,680,702 L85F probably damaging Het
Zfp352 G A 4: 90,224,087 D155N possibly damaging Het
Zfp867 T C 11: 59,465,008 probably benign Het
Zmiz2 T C 11: 6,399,536 F399L probably damaging Het
Other mutations in Sap30l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Sap30l APN 11 57809951 nonsense probably null
R1771:Sap30l UTSW 11 57806099 missense probably damaging 1.00
R1808:Sap30l UTSW 11 57809945 missense probably benign 0.00
R4863:Sap30l UTSW 11 57806054 missense probably damaging 1.00
R7594:Sap30l UTSW 11 57810121 splice site probably null
R7619:Sap30l UTSW 11 57808061 missense probably damaging 1.00
R7675:Sap30l UTSW 11 57810041 missense probably damaging 1.00
Posted On2016-08-02