Incidental Mutation 'IGL01302:Sap30bp'
ID 73294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sap30bp
Ensembl Gene ENSMUSG00000020755
Gene Name SAP30 binding protein
Synonyms 2700016D05Rik, Hcngp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01302
Quality Score
Status
Chromosome 11
Chromosomal Location 115824477-115857547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115853373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 219 (T219A)
Ref Sequence ENSEMBL: ENSMUSP00000114844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140991]
AlphaFold Q02614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021101
Predicted Effect probably damaging
Transcript: ENSMUST00000140991
AA Change: T219A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114844
Gene: ENSMUSG00000020755
AA Change: T219A

DomainStartEndE-ValueType
SCOP:d1qbkb_ 4 81 2e-3 SMART
Pfam:HCNGP 119 213 6.5e-38 PFAM
low complexity region 224 248 N/A INTRINSIC
low complexity region 263 289 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit anemia at E16. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,470 (GRCm39) probably benign Het
Abcb5 T A 12: 118,881,935 (GRCm39) D598V probably damaging Het
Adss1 T C 12: 112,601,170 (GRCm39) probably benign Het
Akap9 T A 5: 4,020,711 (GRCm39) S1141T probably benign Het
Avil T C 10: 126,852,903 (GRCm39) probably null Het
Avl9 C A 6: 56,702,075 (GRCm39) H77N probably damaging Het
Cacna1e A G 1: 154,319,653 (GRCm39) V1349A probably damaging Het
Cdc23 A C 18: 34,767,697 (GRCm39) S483A probably benign Het
Cep192 C T 18: 67,991,974 (GRCm39) P1951S probably benign Het
Cp A G 3: 20,020,531 (GRCm39) T175A probably damaging Het
Dubr A C 16: 50,552,998 (GRCm39) noncoding transcript Het
Eif4g2 G T 7: 110,673,920 (GRCm39) Q695K possibly damaging Het
Endod1 A T 9: 14,268,535 (GRCm39) S317T possibly damaging Het
Ep400 T C 5: 110,889,914 (GRCm39) T450A probably benign Het
Erc1 A C 6: 119,699,264 (GRCm39) V790G probably damaging Het
Fam222a T A 5: 114,732,514 (GRCm39) L23Q possibly damaging Het
Fancf A G 7: 51,511,035 (GRCm39) V323A probably benign Het
Grik2 T A 10: 49,120,426 (GRCm39) Q621L probably damaging Het
Gsk3b G T 16: 38,040,380 (GRCm39) R319L probably benign Het
Ikzf1 A G 11: 11,718,923 (GRCm39) Y297C probably damaging Het
Katnal2 T C 18: 77,134,863 (GRCm39) probably benign Het
Lrba G T 3: 86,202,707 (GRCm39) C289F probably damaging Het
Mos T C 4: 3,871,815 (GRCm39) probably benign Het
Mycn T C 12: 12,987,587 (GRCm39) D270G possibly damaging Het
Or52e15 A T 7: 104,645,928 (GRCm39) M61K probably damaging Het
Or6c207 T A 10: 129,104,392 (GRCm39) I267F probably benign Het
Pclo A G 5: 14,726,013 (GRCm39) probably benign Het
Pgm1 A G 4: 99,786,803 (GRCm39) D14G probably damaging Het
Pramel7 T A 2: 87,321,717 (GRCm39) D106V possibly damaging Het
Prdm9 G T 17: 15,773,608 (GRCm39) H263N probably benign Het
Psd4 T A 2: 24,286,799 (GRCm39) probably null Het
Ptprc G A 1: 138,027,369 (GRCm39) T493I possibly damaging Het
Rbbp8 T A 18: 11,855,036 (GRCm39) S420R probably benign Het
Shld2 C T 14: 33,981,684 (GRCm39) V485I probably benign Het
Slc2a7 T A 4: 150,242,021 (GRCm39) L200Q probably damaging Het
Slc38a6 T A 12: 73,335,299 (GRCm39) probably null Het
Tatdn2 T A 6: 113,680,985 (GRCm39) probably benign Het
Thrb A G 14: 18,011,056 (GRCm38) probably benign Het
Timp4 T C 6: 115,223,269 (GRCm39) Y218C possibly damaging Het
Tlr5 A G 1: 182,802,313 (GRCm39) D525G probably benign Het
Usp32 G T 11: 84,879,308 (GRCm39) T1467N probably benign Het
Vmn2r78 A G 7: 86,564,569 (GRCm39) I5V unknown Het
Zbtb43 T C 2: 33,344,103 (GRCm39) H374R probably benign Het
Zfhx4 C A 3: 5,308,628 (GRCm39) T618K probably damaging Het
Other mutations in Sap30bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03089:Sap30bp APN 11 115,848,214 (GRCm39) missense possibly damaging 0.47
IGL03365:Sap30bp APN 11 115,855,078 (GRCm39) missense possibly damaging 0.75
R0374:Sap30bp UTSW 11 115,855,103 (GRCm39) missense probably damaging 0.99
R0634:Sap30bp UTSW 11 115,848,229 (GRCm39) missense probably damaging 1.00
R1736:Sap30bp UTSW 11 115,855,046 (GRCm39) missense probably damaging 1.00
R6996:Sap30bp UTSW 11 115,824,314 (GRCm39) start gained probably benign
R7465:Sap30bp UTSW 11 115,842,794 (GRCm39) missense probably benign
RF024:Sap30bp UTSW 11 115,851,333 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07