Incidental Mutation 'IGL03172:Zbtb5'
ID411887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb5
Ensembl Gene ENSMUSG00000049657
Gene Namezinc finger and BTB domain containing 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03172
Quality Score
Status
Chromosome4
Chromosomal Location44991242-45012412 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44994003 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 460 (H460Q)
Ref Sequence ENSEMBL: ENSMUSP00000136507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000107817] [ENSMUST00000131991] [ENSMUST00000151148] [ENSMUST00000180217]
Predicted Effect probably benign
Transcript: ENSMUST00000045078
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 9 327 1.4e-28 PFAM
Pfam:2-Hacid_dh_C 116 295 1.3e-59 PFAM
Pfam:NAD_binding_2 153 272 3.4e-8 PFAM
Pfam:F420_oxidored 155 244 3.2e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000055028
AA Change: H460Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: H460Q

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107817
AA Change: H460Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: H460Q

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131991
SMART Domains Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151148
SMART Domains Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 10 207 4.5e-15 PFAM
Pfam:2-Hacid_dh_C 63 222 2.2e-51 PFAM
Pfam:NAD_binding_2 100 219 3.3e-9 PFAM
Pfam:F420_oxidored 102 191 5.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000180217
AA Change: H460Q

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: H460Q

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Zbtb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Zbtb5 APN 4 44995294 missense probably damaging 1.00
IGL02516:Zbtb5 APN 4 44993798 missense probably damaging 0.96
IGL02525:Zbtb5 APN 4 44994731 missense probably benign
IGL03205:Zbtb5 APN 4 44994949 missense probably damaging 0.96
madeleine UTSW 4 44994863 splice site probably null
R0681:Zbtb5 UTSW 4 44993787 missense probably damaging 1.00
R1426:Zbtb5 UTSW 4 44993968 missense possibly damaging 0.95
R1577:Zbtb5 UTSW 4 44995129 missense probably damaging 1.00
R1608:Zbtb5 UTSW 4 44993500 missense probably damaging 1.00
R1817:Zbtb5 UTSW 4 44993767 missense probably benign 0.20
R2919:Zbtb5 UTSW 4 44994790 missense probably damaging 1.00
R3722:Zbtb5 UTSW 4 44994863 splice site probably null
R4222:Zbtb5 UTSW 4 44993855 splice site probably null
R5217:Zbtb5 UTSW 4 44993990 missense probably benign
R5326:Zbtb5 UTSW 4 44995052 missense probably damaging 1.00
R5493:Zbtb5 UTSW 4 44993941 missense probably benign 0.04
R5542:Zbtb5 UTSW 4 44995052 missense probably damaging 1.00
R5912:Zbtb5 UTSW 4 44993750 missense probably benign 0.00
R6171:Zbtb5 UTSW 4 44994119 missense probably benign 0.00
R6337:Zbtb5 UTSW 4 44993459 missense probably damaging 1.00
R6566:Zbtb5 UTSW 4 44994508 missense probably damaging 1.00
R7481:Zbtb5 UTSW 4 44994905 missense probably benign 0.27
R7534:Zbtb5 UTSW 4 44995030 missense probably damaging 1.00
R7548:Zbtb5 UTSW 4 44994724 missense probably benign 0.18
R7557:Zbtb5 UTSW 4 44995196 missense probably damaging 1.00
R7584:Zbtb5 UTSW 4 44993678 missense probably benign
R7831:Zbtb5 UTSW 4 44995244 missense probably damaging 1.00
R8065:Zbtb5 UTSW 4 44994972 missense probably benign 0.25
R8067:Zbtb5 UTSW 4 44994972 missense probably benign 0.25
Posted On2016-08-02