Incidental Mutation 'IGL01302:Zbtb43'
ID73281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb43
Ensembl Gene ENSMUSG00000026788
Gene Namezinc finger and BTB domain containing 43
SynonymsZfp297b, 1700010E06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01302
Quality Score
Status
Chromosome2
Chromosomal Location33450287-33468559 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33454091 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 374 (H374R)
Ref Sequence ENSEMBL: ENSMUSP00000108781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028125] [ENSMUST00000095035] [ENSMUST00000113156] [ENSMUST00000126442] [ENSMUST00000155198]
Predicted Effect probably benign
Transcript: ENSMUST00000028125
AA Change: H337R

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: H337R

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
BTB 33 127 4.98e-25 SMART
ZnF_C2H2 373 394 1.2e1 SMART
ZnF_C2H2 400 422 4.47e-3 SMART
ZnF_C2H2 428 448 2.01e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095035
AA Change: H374R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: H374R

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
BTB 70 164 4.98e-25 SMART
ZnF_C2H2 410 431 1.2e1 SMART
ZnF_C2H2 437 459 4.47e-3 SMART
ZnF_C2H2 465 485 2.01e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113156
AA Change: H374R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: H374R

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
BTB 33 127 4.98e-25 SMART
ZnF_C2H2 373 394 1.2e1 SMART
ZnF_C2H2 400 422 4.47e-3 SMART
ZnF_C2H2 428 448 2.01e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126442
SMART Domains Protein: ENSMUSP00000122729
Gene: ENSMUSG00000026788

DomainStartEndE-ValueType
Pfam:BTB 23 69 6.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132913
Predicted Effect probably benign
Transcript: ENSMUST00000155198
SMART Domains Protein: ENSMUSP00000120989
Gene: ENSMUSG00000026788

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
BTB 33 127 4.98e-25 SMART
Coding Region Coverage
Validation Efficiency
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
Sap30bp A G 11: 115,962,547 T219A probably damaging 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
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Zbtb43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Zbtb43 APN 2 33453759 missense probably benign 0.23
IGL02163:Zbtb43 APN 2 33453783 missense possibly damaging 0.75
IGL03212:Zbtb43 APN 2 33454274 missense probably benign 0.07
R0084:Zbtb43 UTSW 2 33453984 missense probably damaging 1.00
R0400:Zbtb43 UTSW 2 33453897 missense probably damaging 1.00
R2136:Zbtb43 UTSW 2 33454520 missense probably damaging 1.00
R4528:Zbtb43 UTSW 2 33462325 intron probably benign
R4609:Zbtb43 UTSW 2 33454043 missense probably benign 0.21
R4856:Zbtb43 UTSW 2 33453932 missense probably damaging 1.00
R5131:Zbtb43 UTSW 2 33454766 missense probably damaging 0.99
R5984:Zbtb43 UTSW 2 33454260 missense probably benign 0.21
R6606:Zbtb43 UTSW 2 33455054 missense probably damaging 1.00
R7189:Zbtb43 UTSW 2 33462295 missense probably benign
R7837:Zbtb43 UTSW 2 33453969 missense probably damaging 1.00
Posted On2013-10-07