Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03212:Zbtb43'

413355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb43

Ensembl Gene

ENSMUSG00000026788

Gene Name

zinc finger and BTB domain containing 43

Synonyms

Zfp297b, 1700010E06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03212

Quality Score

Status

Chromosome

Chromosomal Location

33340299-33358571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33344286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 313 (M313K)

Ref Sequence

ENSEMBL: ENSMUSP00000108781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028125] [ENSMUST00000095035] [ENSMUST00000113156] [ENSMUST00000126442] [ENSMUST00000155198]

AlphaFold

Q9DAI4

Predicted Effect

probably benign
Transcript: ENSMUST00000028125
AA Change: M276K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: M276K

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
BTB	33	127	4.98e-25	SMART
ZnF_C2H2	373	394	1.2e1	SMART
ZnF_C2H2	400	422	4.47e-3	SMART
ZnF_C2H2	428	448	2.01e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095035
AA Change: M313K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: M313K

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
BTB	70	164	4.98e-25	SMART
ZnF_C2H2	410	431	1.2e1	SMART
ZnF_C2H2	437	459	4.47e-3	SMART
ZnF_C2H2	465	485	2.01e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113156
AA Change: M313K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: M313K

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
BTB	33	127	4.98e-25	SMART
ZnF_C2H2	373	394	1.2e1	SMART
ZnF_C2H2	400	422	4.47e-3	SMART
ZnF_C2H2	428	448	2.01e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126442

SMART Domains

Protein: ENSMUSP00000122729
Gene: ENSMUSG00000026788

Domain	Start	End	E-Value	Type
Pfam:BTB	23	69	6.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155198

SMART Domains

Protein: ENSMUSP00000120989
Gene: ENSMUSG00000026788

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
BTB	33	127	4.98e-25	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,242,085 (GRCm39)	S657P	probably benign	Het
Atp2c1	T	A	9: 105,322,466 (GRCm39)	N221I	probably damaging	Het
Atp5pd	G	T	11: 115,306,597 (GRCm39)	H155N	probably damaging	Het
Cd55b	A	T	1: 130,339,179 (GRCm39)	N316K	probably benign	Het
Celsr1	A	T	15: 85,814,878 (GRCm39)	M1861K	probably benign	Het
Cfap69	T	G	5: 5,707,849 (GRCm39)		probably null	Het
Col7a1	C	A	9: 108,803,520 (GRCm39)	P2169Q	unknown	Het
Cyp2j5	G	T	4: 96,552,055 (GRCm39)	H65N	probably damaging	Het
Dnah5	T	C	15: 28,290,309 (GRCm39)	V1233A	probably benign	Het
Fn1	A	T	1: 71,680,484 (GRCm39)	L407*	probably null	Het
Fpr-rs3	T	C	17: 20,844,121 (GRCm39)	D340G	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glmp	T	C	3: 88,235,664 (GRCm39)	S317P	probably benign	Het
Gm5581	A	T	6: 131,158,413 (GRCm39)		noncoding transcript	Het
Gm5624	A	T	14: 44,798,167 (GRCm39)	N103K	probably benign	Het
Gprin3	A	G	6: 59,332,013 (GRCm39)	F98S	probably benign	Het
Ighmbp2	A	G	19: 3,329,942 (GRCm39)	V104A	probably damaging	Het
Igkv4-79	A	C	6: 69,020,214 (GRCm39)	S34A	probably benign	Het
Igsf10	G	A	3: 59,235,586 (GRCm39)	P1532S	probably benign	Het
Myt1l	A	G	12: 29,877,819 (GRCm39)	K490R	unknown	Het
Or5d46	T	A	2: 88,170,016 (GRCm39)	Y36N	probably damaging	Het
Pira13	T	A	7: 3,826,132 (GRCm39)	Q287L	probably benign	Het
Plxna1	T	A	6: 89,308,885 (GRCm39)	T1198S	probably damaging	Het
Pramel6	A	G	2: 87,340,769 (GRCm39)	D367G	probably damaging	Het
Rbm28	G	T	6: 29,131,274 (GRCm39)	R10S	probably damaging	Het
Rdh10	T	G	1: 16,178,051 (GRCm39)	C108G	probably benign	Het
Rfx7	C	A	9: 72,526,443 (GRCm39)	T1211K	probably benign	Het
Slc24a5	C	A	2: 124,922,750 (GRCm39)	T141N	probably damaging	Het
Smarca5	T	A	8: 81,438,410 (GRCm39)	N642I	possibly damaging	Het
Smchd1	C	A	17: 71,750,886 (GRCm39)	R344L	probably damaging	Het
Tmx3	T	A	18: 90,556,642 (GRCm39)	I355N	probably damaging	Het
Tram1l1	G	A	3: 124,115,563 (GRCm39)	G241D	possibly damaging	Het
Ubr4	A	G	4: 139,137,074 (GRCm39)	T982A	probably benign	Het
Vmn2r52	T	G	7: 9,893,474 (GRCm39)	H555P	possibly damaging	Het
Zfp942	A	T	17: 22,148,445 (GRCm39)	Y61*	probably null	Het

Other mutations in Zbtb43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Zbtb43	APN	2	33,343,771 (GRCm39)	missense	probably benign	0.23
IGL01302:Zbtb43	APN	2	33,344,103 (GRCm39)	missense	probably benign	0.19
IGL02163:Zbtb43	APN	2	33,343,795 (GRCm39)	missense	possibly damaging	0.75
R0084:Zbtb43	UTSW	2	33,343,996 (GRCm39)	missense	probably damaging	1.00
R0400:Zbtb43	UTSW	2	33,343,909 (GRCm39)	missense	probably damaging	1.00
R2136:Zbtb43	UTSW	2	33,344,532 (GRCm39)	missense	probably damaging	1.00
R4528:Zbtb43	UTSW	2	33,352,337 (GRCm39)	intron	probably benign
R4609:Zbtb43	UTSW	2	33,344,055 (GRCm39)	missense	probably benign	0.21
R4856:Zbtb43	UTSW	2	33,343,944 (GRCm39)	missense	probably damaging	1.00
R5131:Zbtb43	UTSW	2	33,344,778 (GRCm39)	missense	probably damaging	0.99
R5984:Zbtb43	UTSW	2	33,344,272 (GRCm39)	missense	probably benign	0.21
R6606:Zbtb43	UTSW	2	33,345,066 (GRCm39)	missense	probably damaging	1.00
R7189:Zbtb43	UTSW	2	33,352,307 (GRCm39)	missense	probably benign
R7837:Zbtb43	UTSW	2	33,343,981 (GRCm39)	missense	probably damaging	1.00
R8355:Zbtb43	UTSW	2	33,345,120 (GRCm39)	missense	possibly damaging	0.82

Posted On

2016-08-02