Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Zbtb14'

294980

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: 0.874) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

69383050-69390750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69387695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 129 (D129E)

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: D129E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: D129E

Domain	Start	End	E-Value	Type
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: D129E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: D129E

Domain	Start	End	E-Value	Type
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: D129E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: D129E

Domain	Start	End	E-Value	Type
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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in Zbtb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Zbtb14	APN	17	69388189	missense	probably benign	0.04
IGL01623:Zbtb14	APN	17	69388189	missense	probably benign	0.04
PIT4687001:Zbtb14	UTSW	17	69388307	nonsense	probably null
R0736:Zbtb14	UTSW	17	69387802	missense	possibly damaging	0.66
R0811:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R0812:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R0829:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R0866:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R0946:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R0947:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1052:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1053:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1056:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1076:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1187:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1374:Zbtb14	UTSW	17	69387580	missense	probably damaging	1.00
R1471:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1505:Zbtb14	UTSW	17	69387764	missense	probably benign	0.00
R1507:Zbtb14	UTSW	17	69387764	missense	probably benign	0.00
R1508:Zbtb14	UTSW	17	69387764	missense	probably benign	0.00
R1509:Zbtb14	UTSW	17	69387764	missense	probably benign	0.00
R1514:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1680:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1691:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R1712:Zbtb14	UTSW	17	69387580	missense	probably damaging	1.00
R1907:Zbtb14	UTSW	17	69387390	missense	possibly damaging	0.91
R1981:Zbtb14	UTSW	17	69388502	missense	probably damaging	1.00
R2916:Zbtb14	UTSW	17	69388219	missense	probably damaging	1.00
R2918:Zbtb14	UTSW	17	69388219	missense	probably damaging	1.00
R4589:Zbtb14	UTSW	17	69388470	missense	probably damaging	1.00
R4622:Zbtb14	UTSW	17	69388347	missense	possibly damaging	0.80
R4812:Zbtb14	UTSW	17	69387582	missense	probably damaging	1.00
R6246:Zbtb14	UTSW	17	69387483	missense	possibly damaging	0.46
R6889:Zbtb14	UTSW	17	69387679	missense	probably damaging	1.00
R7575:Zbtb14	UTSW	17	69387447	missense	probably damaging	0.98
R7716:Zbtb14	UTSW	17	69387420	missense	probably benign
R8976:Zbtb14	UTSW	17	69387757	missense	possibly damaging	0.95
R9341:Zbtb14	UTSW	17	69388581	missense	probably damaging	0.97
R9343:Zbtb14	UTSW	17	69388581	missense	probably damaging	0.97
R9638:Zbtb14	UTSW	17	69388380	missense	probably damaging	1.00

Posted On

2015-04-16