Incidental Mutation 'IGL01302:Sap30bp'
ID73294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sap30bp
Ensembl Gene ENSMUSG00000020755
Gene NameSAP30 binding protein
SynonymsHcngp, 2700016D05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01302
Quality Score
Status
Chromosome11
Chromosomal Location115933282-115966725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115962547 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 219 (T219A)
Ref Sequence ENSEMBL: ENSMUSP00000114844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140991]
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: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Sap30bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03089:Sap30bp APN 11 115957388 missense possibly damaging 0.47
IGL03365:Sap30bp APN 11 115964252 missense possibly damaging 0.75
R0374:Sap30bp UTSW 11 115964277 missense probably damaging 0.99
R0634:Sap30bp UTSW 11 115957403 missense probably damaging 1.00
R1736:Sap30bp UTSW 11 115964220 missense probably damaging 1.00
R6996:Sap30bp UTSW 11 115933488 start gained probably benign
R7465:Sap30bp UTSW 11 115951968 missense probably benign
RF024:Sap30bp UTSW 11 115960507 missense probably damaging 1.00
Posted On2013-10-07