Incidental Mutation 'IGL00927:Zbtb7c'
ID29411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb7c
Ensembl Gene ENSMUSG00000044646
Gene Namezinc finger and BTB domain containing 7C
SynonymsKr-pok, B230208J24Rik, Zbtb36
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL00927
Quality Score
Status
Chromosome18
Chromosomal Location75820178-76148561 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76145850 bp
ZygosityHeterozygous
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]
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: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Plekha8 C A 6: 54,629,837 Y372* probably null Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Zbtb7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Zbtb7c APN 18 76145866 missense probably damaging 0.99
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
R7932:Zbtb7c UTSW 18 76145701 missense probably benign 0.40
R8047:Zbtb7c UTSW 18 76137150 missense probably damaging 0.98
Posted On2013-04-17