Incidental Mutation 'IGL01622:Zbtb14'
ID 278651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb14
Ensembl Gene ENSMUSG00000049672
Gene Name zinc finger and BTB domain containing 14
Synonyms Zfp161, b2b1982Clo, ZF5
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # IGL01622
Quality Score
Status
Chromosome 17
Chromosomal Location 69690170-69697747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69695184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 294 (K294R)
Ref Sequence ENSEMBL: ENSMUSP00000108296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062369] [ENSMUST00000112674] [ENSMUST00000112676]
AlphaFold Q08376
Predicted Effect probably benign
Transcript: ENSMUST00000062369
AA Change: K294R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: K294R

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 benign
Transcript: ENSMUST00000112674
AA Change: K294R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: K294R

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 benign
Transcript: ENSMUST00000112676
AA Change: K294R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: K294R

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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Zbtb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0812: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
Posted On 2015-04-16