Mutagenetix > Incidental Mutation

Incidental Mutation 'R5131:Zbtb43'

394987

Institutional Source

Beutler Lab

Gene Symbol

Zbtb43

Ensembl Gene

ENSMUSG00000026788

Gene Name

zinc finger and BTB domain containing 43

Synonyms

Zfp297b, 1700010E06Rik

MMRRC Submission

042719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33340299-33358571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33344778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 112 (M112K)

Ref Sequence

ENSEMBL: ENSMUSP00000120989 (fasta)

Gene Model

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

AlphaFold

Q9DAI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028125
AA Change: M112K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: M112K

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 damaging
Transcript: ENSMUST00000095035
AA Change: M149K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: M149K

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 damaging
Transcript: ENSMUST00000113156
AA Change: M149K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: M149K

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 damaging
Transcript: ENSMUST00000155198
AA Change: M112K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120989
Gene: ENSMUSG00000026788
AA Change: M112K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	T	4: 40,163,797 (GRCm39)	P17S	probably benign	Het
Arhgap35	A	G	7: 16,245,112 (GRCm39)		probably null	Het
Brd3	A	T	2: 27,343,427 (GRCm39)	N480K	probably benign	Het
Ccnk	T	C	12: 108,168,890 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh1	T	C	8: 107,390,430 (GRCm39)	V590A	possibly damaging	Het
Cert1	A	G	13: 96,751,343 (GRCm39)	D331G	probably damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Cmklr2	T	A	1: 63,222,840 (GRCm39)	S132C	probably damaging	Het
Cyp4a12a	T	A	4: 115,185,017 (GRCm39)	D399E	possibly damaging	Het
Dnah11	A	C	12: 117,918,486 (GRCm39)	Y3482D	probably damaging	Het
Gtf3c3	A	T	1: 54,458,657 (GRCm39)		probably null	Het
Gzmk	G	T	13: 113,310,482 (GRCm39)	A73E	probably benign	Het
Hnrnpul1	A	G	7: 25,426,219 (GRCm39)	V444A	probably benign	Het
Lgr4	T	C	2: 109,842,678 (GRCm39)	S864P	probably benign	Het
Lrp2	A	T	2: 69,260,686 (GRCm39)	V4515E	possibly damaging	Het
Map3k19	A	T	1: 127,751,427 (GRCm39)	N641K	possibly damaging	Het
Mesp2	A	G	7: 79,461,475 (GRCm39)	T267A	possibly damaging	Het
Mipep	T	C	14: 61,140,823 (GRCm39)	L682P	probably damaging	Het
Nalcn	G	T	14: 123,753,182 (GRCm39)	T268K	probably damaging	Het
Ncam2	T	C	16: 81,234,550 (GRCm39)	V135A	probably benign	Het
Ndufaf6	G	T	4: 11,060,931 (GRCm39)	T215K	probably damaging	Het
Nr1h4	T	C	10: 89,319,317 (GRCm39)	D183G	probably damaging	Het
Pate9	C	T	9: 36,446,242 (GRCm39)	A57T	possibly damaging	Het
Pax2	G	T	19: 44,749,394 (GRCm39)	V41L	probably damaging	Het
Pde4dip	T	A	3: 97,616,830 (GRCm39)	N1804I	probably damaging	Het
Phtf2	A	T	5: 20,979,050 (GRCm39)	V526E	probably damaging	Het
Ppp1ca	G	A	19: 4,244,895 (GRCm39)	C291Y	probably damaging	Het
Prag1	G	T	8: 36,607,123 (GRCm39)	G955C	probably damaging	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Rap1b	C	T	10: 117,660,516 (GRCm39)	V14I	probably damaging	Het
Rnf181	G	A	6: 72,337,811 (GRCm39)		probably null	Het
Rsbn1l	G	A	5: 21,101,243 (GRCm39)	R766C	possibly damaging	Het
Rusc2	C	T	4: 43,414,948 (GRCm39)	P85S	probably benign	Het
Rxfp1	T	C	3: 79,559,471 (GRCm39)		probably null	Het
Serpinb6a	T	A	13: 34,102,855 (GRCm39)	M202L	probably benign	Het
Snd1	T	C	6: 28,885,049 (GRCm39)	F800S	probably damaging	Het
Tbc1d2b	G	A	9: 90,091,812 (GRCm39)	T830I	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmtc3	T	C	10: 100,284,841 (GRCm39)	D598G	probably damaging	Het
Ube3b	A	G	5: 114,545,607 (GRCm39)	D622G	probably damaging	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
IGL03212:Zbtb43	APN	2	33,344,286 (GRCm39)	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGCTTTGGGGAAATCAG -3'
(R):5'- GTCTCCATTGTTGTCCAAGGC -3'

Sequencing Primer
(F):5'- AAATCAGTGTGGCCCCCAGAG -3'
(R):5'- AGGCGCACAAAGCTGTTCTTG -3'

Posted On

2016-06-21