Incidental Mutation 'IGL00927:Zbtb7c'
ID 29411
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, Zbtb36, B230208J24Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # IGL00927
Quality Score
Status
Chromosome 18
Chromosomal Location 75953249-76281635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76278921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 460 (S460P)
Ref Sequence ENSEMBL: ENSMUSP00000126808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058997] [ENSMUST00000167921]
AlphaFold Q8VCZ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000058997
AA Change: S460P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: S460P

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 possibly damaging
Transcript: ENSMUST00000167921
AA Change: S460P

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: S460P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Zbtb7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Zbtb7c APN 18 76,278,937 (GRCm39) missense probably damaging 0.99
IGL02397:Zbtb7c APN 18 76,270,047 (GRCm39) missense possibly damaging 0.63
R0112:Zbtb7c UTSW 18 76,269,962 (GRCm39) missense probably damaging 1.00
R0374:Zbtb7c UTSW 18 76,270,464 (GRCm39) missense probably benign 0.01
R1485:Zbtb7c UTSW 18 76,270,061 (GRCm39) missense probably damaging 1.00
R1818:Zbtb7c UTSW 18 76,270,596 (GRCm39) missense probably damaging 1.00
R1866:Zbtb7c UTSW 18 76,269,977 (GRCm39) missense probably benign 0.16
R3737:Zbtb7c UTSW 18 76,270,011 (GRCm39) missense probably damaging 1.00
R4611:Zbtb7c UTSW 18 76,269,918 (GRCm39) missense possibly damaging 0.81
R4737:Zbtb7c UTSW 18 76,279,225 (GRCm39) missense probably benign 0.15
R5080:Zbtb7c UTSW 18 76,270,413 (GRCm39) missense probably benign 0.06
R6160:Zbtb7c UTSW 18 76,278,904 (GRCm39) missense probably benign 0.05
R6262:Zbtb7c UTSW 18 76,270,413 (GRCm39) missense probably benign
R7193:Zbtb7c UTSW 18 76,271,009 (GRCm39) missense probably damaging 1.00
R7703:Zbtb7c UTSW 18 76,270,433 (GRCm39) missense probably benign 0.02
R7849:Zbtb7c UTSW 18 76,278,772 (GRCm39) missense probably benign 0.40
R8047:Zbtb7c UTSW 18 76,270,221 (GRCm39) missense probably damaging 0.98
R8157:Zbtb7c UTSW 18 76,270,398 (GRCm39) missense probably benign 0.05
R8809:Zbtb7c UTSW 18 76,270,190 (GRCm39) missense probably damaging 1.00
R8903:Zbtb7c UTSW 18 76,270,152 (GRCm39) missense probably damaging 1.00
R8982:Zbtb7c UTSW 18 76,279,344 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17