Incidental Mutation 'R0812:Zbtb14'
ID 262323
Institutional Source Beutler Lab
Gene Symbol Zbtb14
Ensembl Gene ENSMUSG00000049672
Gene Name zinc finger and BTB domain containing 14
Synonyms Zfp161, b2b1982Clo, ZF5
MMRRC Submission 038992-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R0812 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 69690170-69697747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69695497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 398 (F398L)
Ref Sequence ENSEMBL: ENSMUSP00000108296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062369] [ENSMUST00000112674] [ENSMUST00000112676]
AlphaFold Q08376
Predicted Effect probably damaging
Transcript: ENSMUST00000062369
AA Change: F398L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: F398L

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112674
AA Change: F398L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: F398L

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112676
AA Change: F398L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: F398L

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.8%
  • 20x: 91.7%
Validation Efficiency 96% (52/54)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation show exencephaly, cardiac defects including valve abnormalities, double outlet right ventricle, perimembranous ventricular septal defect, and atrioventricular septal defect, and renal anomalies such as duplex kidney, hydronephrosis, and kidney cysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,763,229 (GRCm39) S586P probably damaging Het
Abcc3 G A 11: 94,266,028 (GRCm39) probably benign Het
Ap5z1 G A 5: 142,461,546 (GRCm39) R583H probably benign Het
Arrb1 G T 7: 99,247,708 (GRCm39) V346L probably benign Het
Atrnl1 T A 19: 57,661,573 (GRCm39) F518I probably benign Het
Bank1 T A 3: 135,799,127 (GRCm39) I405F probably damaging Het
Cacna1c A G 6: 118,607,224 (GRCm39) C1227R probably benign Het
Cacna1h A G 17: 25,607,602 (GRCm39) L905P probably damaging Het
Cc2d1a A G 8: 84,860,465 (GRCm39) Y826H probably benign Het
Cenpo A G 12: 4,266,643 (GRCm39) V155A probably benign Het
Cnmd A G 14: 79,898,863 (GRCm39) F63S probably damaging Het
Cnn3 G A 3: 121,248,600 (GRCm39) G72D probably damaging Het
Cox10 A G 11: 63,962,539 (GRCm39) S101P probably benign Het
Ctdsp1 T C 1: 74,433,806 (GRCm39) V129A probably damaging Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Dennd5a G A 7: 109,532,820 (GRCm39) H317Y possibly damaging Het
Dnaaf9 A G 2: 130,555,334 (GRCm39) F858S probably damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Enox1 T A 14: 77,819,876 (GRCm39) D210E probably damaging Het
Fam171a1 A G 2: 3,198,464 (GRCm39) N190S probably damaging Het
Fat2 T A 11: 55,144,459 (GRCm39) K4138N possibly damaging Het
Fat4 A T 3: 39,011,623 (GRCm39) D2241V probably damaging Het
Fbn1 C T 2: 125,245,090 (GRCm39) V266I possibly damaging Het
Foxf2 T A 13: 31,811,188 (GRCm39) Y376N probably damaging Het
Fras1 T A 5: 96,900,857 (GRCm39) S3025R probably benign Het
Gba1 T C 3: 89,111,307 (GRCm39) I24T probably benign Het
Gdpd5 A G 7: 99,087,540 (GRCm39) D68G probably damaging Het
Grid1 G A 14: 34,544,576 (GRCm39) S49N probably benign Het
Grtp1 T C 8: 13,229,639 (GRCm39) T250A possibly damaging Het
Gucy1b1 T C 3: 81,945,295 (GRCm39) N448D probably benign Het
H2-Ob A G 17: 34,463,100 (GRCm39) probably benign Het
Hcn4 A G 9: 58,730,795 (GRCm39) M1V probably null Het
Hmcn2 G A 2: 31,310,383 (GRCm39) A3326T probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Ippk C A 13: 49,596,947 (GRCm39) Q254K probably damaging Het
Itga2 A T 13: 115,007,150 (GRCm39) L393I possibly damaging Het
Kcna10 A T 3: 107,102,575 (GRCm39) E402V possibly damaging Het
Kcnab1 G A 3: 65,205,141 (GRCm39) D119N probably damaging Het
Kcnip4 T A 5: 48,567,202 (GRCm39) T122S probably benign Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Klhl22 T A 16: 17,610,453 (GRCm39) M568K probably benign Het
Krt6a C T 15: 101,601,183 (GRCm39) V257M probably damaging Het
Ksr2 A C 5: 117,693,290 (GRCm39) H246P probably damaging Het
Lca5 T C 9: 83,281,806 (GRCm39) D326G possibly damaging Het
Lcp1 A G 14: 75,451,928 (GRCm39) E393G probably benign Het
Leo1 G A 9: 75,352,831 (GRCm39) E125K probably benign Het
Lipt1 T A 1: 37,914,382 (GRCm39) V146E probably damaging Het
Mael A T 1: 166,062,968 (GRCm39) probably null Het
Mga C T 2: 119,778,442 (GRCm39) L1996F probably damaging Het
Mllt6 A G 11: 97,569,387 (GRCm39) N913S probably damaging Het
Mphosph9 A C 5: 124,436,822 (GRCm39) D507E probably damaging Het
Mvp G A 7: 126,586,728 (GRCm39) A801V probably benign Het
Ndrg2 A G 14: 52,146,119 (GRCm39) probably benign Het
Neb T C 2: 52,182,707 (GRCm39) D1053G possibly damaging Het
Nubp1 C A 16: 10,231,585 (GRCm39) L79I probably benign Het
Or1e1f G A 11: 73,856,246 (GRCm39) E271K probably benign Het
Or1o2 A C 17: 37,543,223 (GRCm39) L13V probably benign Het
Or8d2 G A 9: 38,759,805 (GRCm39) V132I probably benign Het
Pnpla8 G A 12: 44,330,188 (GRCm39) V29M probably benign Het
Psmb2 T A 4: 126,601,350 (GRCm39) I151N possibly damaging Het
Ptgs2 C T 1: 149,977,105 (GRCm39) T104I probably benign Het
Ptpro A G 6: 137,345,077 (GRCm39) T28A probably benign Het
Raf1 A G 6: 115,603,671 (GRCm39) probably null Het
Ranbp2 T C 10: 58,301,351 (GRCm39) M668T probably benign Het
Rbm48 A T 5: 3,641,760 (GRCm39) probably null Het
Rhag A T 17: 41,142,469 (GRCm39) T225S possibly damaging Het
Rhof A C 5: 123,269,950 (GRCm39) L69R probably damaging Het
Slc24a5 T C 2: 124,910,724 (GRCm39) S52P probably damaging Het
Slc8a2 T C 7: 15,875,039 (GRCm39) V429A probably damaging Het
Slfn10-ps G A 11: 82,926,388 (GRCm39) noncoding transcript Het
Spam1 G A 6: 24,796,886 (GRCm39) R279H probably damaging Het
Srfbp1 A G 18: 52,620,588 (GRCm39) D102G probably damaging Het
Srrm3 A C 5: 135,902,136 (GRCm39) probably benign Het
Tk1 T C 11: 117,712,933 (GRCm39) E98G probably damaging Het
Trim13 G A 14: 61,843,149 (GRCm39) V389I probably benign Het
Ttc28 A T 5: 111,383,366 (GRCm39) Y1289F probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ugt1a10 T A 1: 87,983,904 (GRCm39) V234D probably benign Het
Vmn2r18 C A 5: 151,496,395 (GRCm39) probably benign Het
Vmn2r75 C T 7: 85,814,575 (GRCm39) G306E probably benign Het
Vmn2r86 C T 10: 130,289,497 (GRCm39) V133I probably benign Het
Vps13c C A 9: 67,841,758 (GRCm39) Q1927K probably benign Het
Zfp219 T A 14: 52,244,395 (GRCm39) T550S probably benign Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp507 G A 7: 35,502,048 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,552 (GRCm39) F350L possibly damaging Het
Other mutations in Zbtb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Zbtb14 APN 17 69,695,184 (GRCm39) missense probably benign 0.04
IGL01623:Zbtb14 APN 17 69,695,184 (GRCm39) missense probably benign 0.04
IGL02477:Zbtb14 APN 17 69,694,690 (GRCm39) missense probably benign 0.00
PIT4687001:Zbtb14 UTSW 17 69,695,302 (GRCm39) nonsense probably null
R0736:Zbtb14 UTSW 17 69,694,797 (GRCm39) missense possibly damaging 0.66
R0811:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0829:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0866:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0946:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0947:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1052:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1053:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1056:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1076:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1187:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1374:Zbtb14 UTSW 17 69,694,575 (GRCm39) missense probably damaging 1.00
R1471:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1505:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1507:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1508:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1509:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1514:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1680:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1691:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1712:Zbtb14 UTSW 17 69,694,575 (GRCm39) missense probably damaging 1.00
R1907:Zbtb14 UTSW 17 69,694,385 (GRCm39) missense possibly damaging 0.91
R1981:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R2916:Zbtb14 UTSW 17 69,695,214 (GRCm39) missense probably damaging 1.00
R2918:Zbtb14 UTSW 17 69,695,214 (GRCm39) missense probably damaging 1.00
R4589:Zbtb14 UTSW 17 69,695,465 (GRCm39) missense probably damaging 1.00
R4622:Zbtb14 UTSW 17 69,695,342 (GRCm39) missense possibly damaging 0.80
R4812:Zbtb14 UTSW 17 69,694,577 (GRCm39) missense probably damaging 1.00
R6246:Zbtb14 UTSW 17 69,694,478 (GRCm39) missense possibly damaging 0.46
R6889:Zbtb14 UTSW 17 69,694,674 (GRCm39) missense probably damaging 1.00
R7575:Zbtb14 UTSW 17 69,694,442 (GRCm39) missense probably damaging 0.98
R7716:Zbtb14 UTSW 17 69,694,415 (GRCm39) missense probably benign
R8976:Zbtb14 UTSW 17 69,694,752 (GRCm39) missense possibly damaging 0.95
R9341:Zbtb14 UTSW 17 69,695,576 (GRCm39) missense probably damaging 0.97
R9343:Zbtb14 UTSW 17 69,695,576 (GRCm39) missense probably damaging 0.97
R9638:Zbtb14 UTSW 17 69,695,375 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04