Incidental Mutation 'IGL02397:Zbtb7c'
ID 291731
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 # IGL02397
Quality Score
Status
Chromosome 18
Chromosomal Location 75820178-76148561 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76136976 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 45 (Y45F)
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: Y45F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: Y45F

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: Y45F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: Y45F

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
A2m A G 6: 121,646,875 N400S probably benign Het
Adam12 T A 7: 133,909,819 probably benign Het
Adam5 T C 8: 24,744,133 probably benign Het
Amn A T 12: 111,274,479 Y139F possibly damaging Het
Ano10 C A 9: 122,261,392 R285L probably damaging Het
Atad2b A G 12: 4,974,046 Y57C probably damaging Het
Brd8 T C 18: 34,604,873 K786R probably damaging Het
Cacna2d1 T C 5: 16,320,164 probably benign Het
Card9 C T 2: 26,352,329 D532N probably damaging Het
Cd22 T C 7: 30,877,625 T86A probably benign Het
Cebpz A T 17: 78,923,261 D842E possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 A G 1: 10,108,465 N713S possibly damaging Het
Eml5 T C 12: 98,790,674 T1899A probably benign Het
Fpgs T C 2: 32,685,789 T381A probably damaging Het
Frmd7 G A X: 50,895,898 T465I possibly damaging Het
Gm9837 A T 11: 53,470,160 probably benign Het
Hectd3 C A 4: 117,003,136 A816D possibly damaging Het
Itpripl2 A G 7: 118,490,296 W347R probably damaging Het
Kcnc3 A G 7: 44,595,794 T503A probably damaging Het
Mmadhc T C 2: 50,288,980 E142G possibly damaging Het
Nabp2 T A 10: 128,408,323 N138I possibly damaging Het
Obscn A G 11: 59,076,899 V2902A possibly damaging Het
Rbm8a2 T C 1: 175,978,638 D91G probably damaging Het
Samd3 A T 10: 26,233,576 Y134F possibly damaging Het
Slc11a2 A G 15: 100,401,649 F58S probably damaging Het
Slitrk4 T C X: 64,272,684 T126A probably damaging Het
Sspo C A 6: 48,461,638 P1547T probably benign Het
Tecta T C 9: 42,394,998 S45G probably damaging Het
Tenm3 T C 8: 48,236,694 T1937A possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trmt1l T A 1: 151,439,531 I156N probably damaging Het
Vmn1r71 C T 7: 10,748,272 R163Q probably benign Het
Ythdf2 C T 4: 132,211,446 G13D probably damaging Het
Zfc3h1 G A 10: 115,407,985 M740I probably damaging Het
Other mutations in Zbtb7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Zbtb7c APN 18 76145850 missense possibly damaging 0.92
IGL02314:Zbtb7c APN 18 76145866 missense probably damaging 0.99
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