Incidental Mutation 'IGL01996:Sap30l'
ID182905
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: 0.454) question?
Stock #IGL01996
Quality Score
Status
Chromosome11
Chromosomal Location57801637-57810217 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 57809951 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 144 (R144*)
Ref Sequence ENSEMBL: ENSMUSP00000020826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020826]
Predicted Effect probably null
Transcript: ENSMUST00000020826
AA Change: R144*
SMART Domains Protein: ENSMUSP00000020826
Gene: ENSMUSG00000020519
AA Change: R144*

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,700 V29A possibly damaging Het
Adarb1 A G 10: 77,322,217 L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 M733R probably damaging Het
Aox1 C T 1: 58,082,066 R899C probably benign Het
Arhgap44 T A 11: 65,005,496 probably benign Het
Asns T C 6: 7,682,378 D189G possibly damaging Het
Brap A G 5: 121,678,847 probably benign Het
Ccdc138 T A 10: 58,562,030 L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 probably null Het
Ccdc178 A G 18: 22,097,756 Y353H probably damaging Het
Clca3b A T 3: 144,849,163 S41R probably benign Het
Dpep3 T C 8: 105,974,726 N397S probably damaging Het
Eif1 T C 11: 100,321,000 I83T probably benign Het
Enah A T 1: 181,956,505 W80R unknown Het
F2rl1 C T 13: 95,513,924 C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 T68A probably benign Het
Greb1 T C 12: 16,690,845 K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 G15S unknown Het
Itgb7 C T 15: 102,217,977 G508D probably damaging Het
Kcnq3 A G 15: 66,023,696 I333T probably damaging Het
Knl1 A G 2: 119,104,061 D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 probably null Het
Lrpprc A G 17: 84,773,270 Y176H probably benign Het
Mier1 T C 4: 103,127,276 S22P possibly damaging Het
Mme A T 3: 63,343,549 N337I probably benign Het
Mthfd1 A G 12: 76,303,905 Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 F101Y probably benign Het
Nup133 T A 8: 123,946,595 I66L probably benign Het
Olfr1406 T C 1: 173,183,727 T236A probably benign Het
Olfr378 T A 11: 73,425,968 N5I probably damaging Het
Olfr736 T G 14: 50,393,659 M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 probably null Het
Paqr8 T C 1: 20,935,404 F261L probably damaging Het
Plxna2 A G 1: 194,799,776 E1452G probably damaging Het
Polh T C 17: 46,173,001 D446G probably benign Het
Psg19 A T 7: 18,790,061 M353K possibly damaging Het
Sap25 T C 5: 137,641,818 probably null Het
Sema6b C T 17: 56,131,157 V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 Y228H probably benign Het
Shank2 A G 7: 144,411,493 D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 L52Q possibly damaging Het
Sptlc3 T C 2: 139,581,504 probably benign Het
Tgfb1i1 T C 7: 128,249,292 probably benign Het
Tifa T C 3: 127,796,580 probably benign Het
Tomm40l C T 1: 171,219,655 V265M possibly damaging Het
Trim45 C A 3: 100,928,109 Y469* probably null Het
Ttc21a G T 9: 119,958,116 A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 I189N possibly damaging Het
Other mutations in Sap30l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03156:Sap30l APN 11 57806168 critical splice donor site 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
R7619:Sap30l UTSW 11 57808061 missense probably damaging 1.00
R7675:Sap30l UTSW 11 57810041 missense probably damaging 1.00
Posted On2014-05-07