Mutagenetix > Incidental Mutation

Incidental Mutation 'R7837:Zbtb43'

606028

Institutional Source

Beutler Lab

Gene Symbol

Zbtb43

Ensembl Gene

ENSMUSG00000026788

Gene Name

zinc finger and BTB domain containing 43

Synonyms

Zfp297b, 1700010E06Rik

MMRRC Submission

045891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7837 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33340299-33358571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33343981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 378 (G378R)

Ref Sequence

ENSEMBL: ENSMUSP00000028125 (fasta)

Gene Model

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

AlphaFold

Q9DAI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028125
AA Change: G378R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: G378R

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: G415R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: G415R

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: G415R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: G415R

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,547 (GRCm39)	S108P	probably damaging	Het
Acox3	A	G	5: 35,768,830 (GRCm39)		probably null	Het
Adam22	T	A	5: 8,199,284 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,167,915 (GRCm39)	Y1007C	probably damaging	Het
Anapc4	T	A	5: 53,016,550 (GRCm39)		probably null	Het
Aoc1	T	A	6: 48,882,584 (GRCm39)	Y153*	probably null	Het
Armc1	A	T	3: 19,198,633 (GRCm39)	I109N	probably benign	Het
Bcl2	A	C	1: 106,471,086 (GRCm39)	F207V	possibly damaging	Het
Btd	C	A	14: 31,388,784 (GRCm39)	S168R	possibly damaging	Het
Cage1	A	T	13: 38,206,381 (GRCm39)	M488K	not run	Het
Cemip2	T	A	19: 21,775,385 (GRCm39)	D209E	probably benign	Het
Cenpj	T	C	14: 56,796,185 (GRCm39)	N224S	probably benign	Het
Cln6	T	C	9: 62,756,330 (GRCm39)	V81A		Het
Crispld1	T	A	1: 17,798,954 (GRCm39)	V25E	probably benign	Het
Dnah12	A	G	14: 26,518,176 (GRCm39)	T1808A	probably benign	Het
Dnm3	C	T	1: 161,819,619 (GRCm39)	R851H	possibly damaging	Het
Dtx3l	T	A	16: 35,751,896 (GRCm39)	N675I	probably damaging	Het
Dusp28	A	G	1: 92,835,405 (GRCm39)	E163G	probably benign	Het
Ecd	A	T	14: 20,383,400 (GRCm39)	F346L	probably damaging	Het
F5	G	A	1: 164,014,363 (GRCm39)	V545M	probably damaging	Het
Gm19410	A	T	8: 36,276,134 (GRCm39)	Y1597F	possibly damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gria2	A	T	3: 80,618,095 (GRCm39)	N313K	probably benign	Het
Igkv13-84	C	T	6: 68,916,793 (GRCm39)	S30F	possibly damaging	Het
Kcnh6	C	A	11: 105,924,636 (GRCm39)	H867N	probably benign	Het
Krt82	T	C	15: 101,456,792 (GRCm39)	Q196R	possibly damaging	Het
Mbd4	T	C	6: 115,826,500 (GRCm39)	N164D	probably benign	Het
Mrgpra1	A	T	7: 46,985,076 (GRCm39)	M201K	possibly damaging	Het
Msh6	G	A	17: 88,292,094 (GRCm39)	G283E	probably damaging	Het
Msr1	C	T	8: 40,034,873 (GRCm39)	C426Y	probably damaging	Het
Muc5ac	A	G	7: 141,369,700 (GRCm39)	H3149R	possibly damaging	Het
Nr1i2	T	C	16: 38,074,146 (GRCm39)	M156V	probably benign	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or13a21	T	C	7: 139,999,234 (GRCm39)	I151V	probably benign	Het
Or4c102	A	T	2: 88,422,723 (GRCm39)	I192F	possibly damaging	Het
Or4k15b	T	A	14: 50,272,033 (GRCm39)	T276S	probably damaging	Het
Or51ag1	A	T	7: 103,156,052 (GRCm39)	C34S	possibly damaging	Het
Pakap	A	G	4: 57,855,262 (GRCm39)	D197G	probably damaging	Het
Pcnx4	C	A	12: 72,602,892 (GRCm39)	L385M	probably damaging	Het
Pgap4	A	T	4: 49,586,262 (GRCm39)	M302K	probably damaging	Het
Plscr4	T	A	9: 92,366,976 (GRCm39)	C197S	probably damaging	Het
Rin3	A	G	12: 102,335,024 (GRCm39)	T312A	unknown	Het
Septin7	T	A	9: 25,199,531 (GRCm39)	N143K	possibly damaging	Het
Sgk2	A	G	2: 162,845,216 (GRCm39)	K208E	probably damaging	Het
Slc4a5	A	T	6: 83,238,539 (GRCm39)	T236S	probably benign	Het
Sptbn1	A	G	11: 30,088,832 (GRCm39)	L810P	probably damaging	Het
Stard9	A	G	2: 120,534,146 (GRCm39)	S3468G	probably benign	Het
Tarbp1	T	C	8: 127,201,300 (GRCm39)	S169G	probably benign	Het
Tex56	A	T	13: 35,128,359 (GRCm39)	Q192L	possibly damaging	Het
Tssk2	T	C	16: 17,716,615 (GRCm39)	V6A	possibly damaging	Het
Ttll4	A	T	1: 74,720,916 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,120,462 (GRCm39)	R296*	probably null	Het
Wscd2	G	T	5: 113,710,394 (GRCm39)	C306F	probably damaging	Het
Zdhhc12	A	T	2: 29,981,709 (GRCm39)	V165E	probably damaging	Het
Zfp59	GAAA	GAAAAA	7: 27,554,342 (GRCm39)		probably null	Het
Zfp943	A	T	17: 22,211,346 (GRCm39)	Y144F	probably benign	Het
Zkscan8	T	A	13: 21,704,598 (GRCm39)	N447I	possibly 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
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
R8355:Zbtb43	UTSW	2	33,345,120 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTGCAGCTTCATAGGACTTGG -3'
(R):5'- CTCCATGGAAGAGTTCTCTGGAG -3'

Sequencing Primer
(F):5'- ACATGCCTGTGGAAACTGTC -3'
(R):5'- CTCTGGAGAAAAGTTGGGTGG -3'

Posted On

2019-12-20