Incidental Mutation 'IGL02314:Zbtb7c'
ID 287948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb7c
Ensembl Gene ENSMUSG00000044646
Gene Name zinc finger and BTB domain containing 7C
Synonyms Kr-pok, B230208J24Rik, Zbtb36
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL02314
Quality Score
Status
Chromosome 18
Chromosomal Location 75820178-76148561 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76145866 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 465 (R465H)
Ref Sequence ENSEMBL: ENSMUSP00000126808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058997] [ENSMUST00000167921]
AlphaFold Q8VCZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000058997
AA Change: R465H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: R465H

DomainStartEndE-ValueType
BTB 34 131 1.13e-28 SMART
coiled coil region 144 167 N/A INTRINSIC
low complexity region 290 316 N/A INTRINSIC
ZnF_C2H2 364 386 1.89e-1 SMART
ZnF_C2H2 392 414 4.87e-4 SMART
ZnF_C2H2 420 442 1.92e-2 SMART
ZnF_C2H2 448 468 1.55e1 SMART
low complexity region 564 584 N/A INTRINSIC
low complexity region 590 608 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167921
AA Change: R465H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: R465H

DomainStartEndE-ValueType
BTB 34 131 1.13e-28 SMART
coiled coil region 144 167 N/A INTRINSIC
low complexity region 290 316 N/A INTRINSIC
ZnF_C2H2 364 386 1.89e-1 SMART
ZnF_C2H2 392 414 4.87e-4 SMART
ZnF_C2H2 420 442 1.92e-2 SMART
ZnF_C2H2 448 468 1.55e1 SMART
low complexity region 564 584 N/A INTRINSIC
low complexity region 590 608 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation exhibit decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 K94* probably null Het
Axl A G 7: 25,786,920 F120L possibly damaging Het
Baz2b A G 2: 59,962,227 V519A probably benign Het
Cdk2 A T 10: 128,703,726 I99N probably damaging Het
Ces1b C A 8: 93,064,896 W358C possibly damaging Het
Clca3b A G 3: 144,828,142 probably benign Het
Col6a4 T G 9: 105,997,156 T2211P probably damaging Het
Cyp4f14 C T 17: 32,906,291 E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 T407S possibly damaging Het
Dtx3 G A 10: 127,190,959 probably benign Het
Fat3 A T 9: 15,969,838 L3246H possibly damaging Het
Fat4 A T 3: 38,887,630 D224V probably damaging Het
Fndc9 A T 11: 46,238,295 I214F probably benign Het
Foxred1 A T 9: 35,205,968 I22N probably damaging Het
Gkn1 T C 6: 87,349,121 D29G probably benign Het
Gm13078 T C 4: 143,728,442 S437P probably benign Het
Gm2035 T A 12: 87,919,607 Y84F probably benign Het
Gng11 T A 6: 4,004,317 M1K probably null Het
Hdac7 T C 15: 97,809,004 D237G probably damaging Het
Hgf A G 5: 16,572,602 Y199C probably damaging Het
Hgfac A T 5: 35,041,597 M1L probably benign Het
Hsd17b6 T C 10: 127,997,908 T35A probably damaging Het
Htr3a G A 9: 48,904,627 P170L probably damaging Het
Ighv12-3 A G 12: 114,366,801 S25P probably damaging Het
Jph2 A T 2: 163,397,353 N58K probably damaging Het
Lama5 A G 2: 180,194,482 probably benign Het
Lpin3 T A 2: 160,898,718 Y394* probably null Het
Macf1 G T 4: 123,444,837 T2248K probably damaging Het
Map3k2 A G 18: 32,218,500 probably benign Het
Map4k5 G A 12: 69,818,439 P524S probably benign Het
Mcf2l C T 8: 13,001,851 S359L probably damaging Het
Mdh1b C T 1: 63,711,114 probably null Het
Mfhas1 G A 8: 35,588,773 R134H probably damaging Het
Mogs A G 6: 83,118,055 T618A probably benign Het
Mybpc2 T A 7: 44,522,388 Q39H possibly damaging Het
Myoc C T 1: 162,639,348 R29W probably damaging Het
Nae1 A G 8: 104,526,306 M162T probably damaging Het
Nfatc3 A G 8: 106,078,900 I126V probably benign Het
Nxnl2 C A 13: 51,171,529 F69L probably benign Het
Oca2 T A 7: 56,357,151 I662N probably benign Het
Odf3b T G 15: 89,378,169 K82N probably damaging Het
Olfr1151 A G 2: 87,858,056 N294D probably damaging Het
Olfr1356 A T 10: 78,847,265 S217T probably damaging Het
Olfr549 A T 7: 102,555,111 I276F probably damaging Het
Olfr872 A T 9: 20,260,478 I213L probably benign Het
Pcdhb14 G A 18: 37,450,195 E785K probably benign Het
Plb1 A C 5: 32,281,148 Y209S possibly damaging Het
Rab44 C A 17: 29,139,353 Q172K probably benign Het
Rnf214 A T 9: 45,899,807 V186E probably benign Het
Rps6ka1 C A 4: 133,850,754 G522W probably damaging Het
Samhd1 G T 2: 157,135,028 T21K probably damaging Het
Scly A G 1: 91,319,041 Y358C probably benign Het
Sfxn2 A G 19: 46,582,587 N29D possibly damaging Het
Shank2 A G 7: 144,411,271 D1451G probably benign Het
Slc44a5 G A 3: 154,256,519 S363N probably damaging Het
Smg1 A G 7: 118,154,709 probably benign Het
Tas1r3 A T 4: 155,860,662 C701S probably damaging Het
Tmem87a A G 2: 120,404,021 S14P possibly damaging Het
Trmt6 G A 2: 132,805,458 A486V probably benign Het
Ttn G A 2: 76,896,747 R1602* probably null Het
Ush2a A G 1: 188,633,629 M2227V probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Wdr19 G T 5: 65,257,120 A1279S probably benign Het
Zfp473 T C 7: 44,733,929 S326G probably benign Het
Other mutations in Zbtb7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Zbtb7c APN 18 76145850 missense possibly damaging 0.92
IGL02397:Zbtb7c APN 18 76136976 missense possibly damaging 0.63
R0112:Zbtb7c UTSW 18 76136891 missense probably damaging 1.00
R0374:Zbtb7c UTSW 18 76137393 missense probably benign 0.01
R1485:Zbtb7c UTSW 18 76136990 missense probably damaging 1.00
R1818:Zbtb7c UTSW 18 76137525 missense probably damaging 1.00
R1866:Zbtb7c UTSW 18 76136906 missense probably benign 0.16
R3737:Zbtb7c UTSW 18 76136940 missense probably damaging 1.00
R4611:Zbtb7c UTSW 18 76136847 missense possibly damaging 0.81
R4737:Zbtb7c UTSW 18 76146154 missense probably benign 0.15
R5080:Zbtb7c UTSW 18 76137342 missense probably benign 0.06
R6160:Zbtb7c UTSW 18 76145833 missense probably benign 0.05
R6262:Zbtb7c UTSW 18 76137342 missense probably benign
R7193:Zbtb7c UTSW 18 76137938 missense probably damaging 1.00
R7703:Zbtb7c UTSW 18 76137362 missense probably benign 0.02
R7849:Zbtb7c UTSW 18 76145701 missense probably benign 0.40
R8047:Zbtb7c UTSW 18 76137150 missense probably damaging 0.98
R8157:Zbtb7c UTSW 18 76137327 missense probably benign 0.05
R8809:Zbtb7c UTSW 18 76137119 missense probably damaging 1.00
R8903:Zbtb7c UTSW 18 76137081 missense probably damaging 1.00
R8982:Zbtb7c UTSW 18 76146273 missense probably damaging 1.00
Posted On 2015-04-16