Incidental Mutation 'R6160:Zbtb7c'
ID 489844
Institutional Source Beutler Lab
Gene Symbol Zbtb7c
Ensembl Gene ENSMUSG00000044646
Gene Name zinc finger and BTB domain containing 7C
Synonyms Kr-pok, Zbtb36, B230208J24Rik
MMRRC Submission 044307-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R6160 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 75953249-76281635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76278904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 454 (Y454F)
Ref Sequence ENSEMBL: ENSMUSP00000126808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058997] [ENSMUST00000167921]
AlphaFold Q8VCZ7
Predicted Effect probably benign
Transcript: ENSMUST00000058997
AA Change: Y454F

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: Y454F

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 benign
Transcript: ENSMUST00000167921
AA Change: Y454F

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: Y454F

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 94% (62/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,642,950 (GRCm39) S297R possibly damaging Het
5530400C23Rik A G 6: 133,271,289 (GRCm39) E111G possibly damaging Het
8030423J24Rik T A 13: 71,032,029 (GRCm39) S34T unknown Het
Ace3 T A 11: 105,885,558 (GRCm39) W20R possibly damaging Het
Adgrf1 A G 17: 43,621,578 (GRCm39) E605G probably damaging Het
Arhgap44 G A 11: 65,053,375 (GRCm39) probably benign Het
Atm A C 9: 53,402,259 (GRCm39) H1404Q probably benign Het
AW209491 A G 13: 14,811,306 (GRCm39) E53G probably damaging Het
Bhmt1b G A 18: 87,775,245 (GRCm39) C256Y probably damaging Het
Cdt1 C T 8: 123,298,107 (GRCm39) T366I probably benign Het
Cerk A T 15: 86,026,974 (GRCm39) C179S probably benign Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Clip1 T C 5: 123,751,604 (GRCm39) K726E possibly damaging Het
Dcaf12 A T 4: 41,294,043 (GRCm39) Y365N probably damaging Het
Dennd6b A G 15: 89,073,024 (GRCm39) L171P probably damaging Het
Dip2c G A 13: 9,583,290 (GRCm39) V91I probably benign Het
Dlec1 A G 9: 118,972,387 (GRCm39) I1431V probably benign Het
Egln1 T C 8: 125,675,231 (GRCm39) D188G probably damaging Het
Enpp5 T A 17: 44,392,259 (GRCm39) N229K possibly damaging Het
Fmo1 T G 1: 162,663,867 (GRCm39) I221L probably benign Het
Fsip2 G A 2: 82,818,289 (GRCm39) W4674* probably null Het
Gm12185 G A 11: 48,799,255 (GRCm39) Q413* probably null Het
Gm7298 A T 6: 121,741,886 (GRCm39) H436L probably benign Het
Gucy2c G A 6: 136,717,684 (GRCm39) Q430* probably null Het
Hgd A G 16: 37,433,660 (GRCm39) H134R probably damaging Het
Hoxd8 A G 2: 74,536,343 (GRCm39) E151G probably damaging Het
Il15ra A G 2: 11,724,827 (GRCm39) D99G probably damaging Het
Ints4 T A 7: 97,158,790 (GRCm39) probably null Het
Itgb1 T A 8: 129,446,764 (GRCm39) F426L possibly damaging Het
Itpr1 A C 6: 108,495,716 (GRCm39) I2534L probably benign Het
Kcnq4 T A 4: 120,573,756 (GRCm39) H235L probably damaging Het
Kcnt1 T A 2: 25,782,395 (GRCm39) I178N probably damaging Het
Kidins220 A G 12: 25,047,310 (GRCm39) D252G probably damaging Het
Krt23 A G 11: 99,376,544 (GRCm39) I204T probably damaging Het
Lipo4 A G 19: 33,480,693 (GRCm39) L225P probably damaging Het
Lrp3 T C 7: 34,903,548 (GRCm39) D245G possibly damaging Het
Mmp16 A G 4: 18,051,857 (GRCm39) D282G probably damaging Het
Myo1c A T 11: 75,541,568 (GRCm39) H18L probably benign Het
Myo1f C A 17: 33,823,318 (GRCm39) P981Q probably benign Het
Nle1 A T 11: 82,798,983 (GRCm39) F33I probably benign Het
Nlrp4e T G 7: 23,020,731 (GRCm39) M406R probably damaging Het
Obscn A T 11: 58,942,611 (GRCm39) V4857E probably damaging Het
Palb2 A T 7: 121,727,643 (GRCm39) probably null Het
Phospho1 A T 11: 95,721,450 (GRCm39) E22V probably damaging Het
Pom121l2 C T 13: 22,167,838 (GRCm39) S703L possibly damaging Het
Prex2 T C 1: 11,064,075 (GRCm39) L20P probably damaging Het
Psmb7 T C 2: 38,533,393 (GRCm39) T45A probably damaging Het
R3hdm2 T C 10: 127,320,376 (GRCm39) I532T probably damaging Het
Rcn1 T C 2: 105,222,362 (GRCm39) D208G probably damaging Het
Recql5 A G 11: 115,823,613 (GRCm39) probably null Het
Resf1 G A 6: 149,233,005 (GRCm39) probably null Het
Rfc4 A T 16: 22,933,433 (GRCm39) I242N probably damaging Het
Rims1 T C 1: 22,503,235 (GRCm39) Y650C probably damaging Het
Shc2 C T 10: 79,462,853 (GRCm39) probably null Het
Slc14a2 A T 18: 78,202,190 (GRCm39) probably null Het
Slc6a6 A T 6: 91,716,995 (GRCm39) probably null Het
Synj2 C A 17: 6,058,336 (GRCm39) H275N possibly damaging Het
T A T 17: 8,660,618 (GRCm39) T410S probably benign Het
Tars3 A G 7: 65,332,527 (GRCm39) I543V probably benign Het
Tbc1d8 T A 1: 39,411,484 (GRCm39) K1117N probably damaging Het
Tm7sf3 A T 6: 146,507,787 (GRCm39) L425* probably null Het
Trav14-3 A G 14: 54,000,978 (GRCm39) Y63C probably damaging Het
Tyro3 A C 2: 119,633,751 (GRCm39) D133A probably damaging Het
Vmn1r119 T G 7: 20,745,740 (GRCm39) H214P possibly damaging Het
Vmn2r120 G A 17: 57,816,418 (GRCm39) P646S probably benign Het
Zmym2 T C 14: 57,187,766 (GRCm39) L1144P probably damaging Het
Other mutations in Zbtb7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Zbtb7c APN 18 76,278,921 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- AACCCTGGCTTCTGTGTTG -3'
(R):5'- AAGCCAGGAAGTGCTTAGCG -3'

Sequencing Primer
(F):5'- CTGTGTTGCAGGCAGGAC -3'
(R):5'- AAGTGCTTAGCGGGGCTG -3'
Posted On 2017-10-10