Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02172:Gatad2b'

282957

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatad2b

Ensembl Gene

ENSMUSG00000042390

Gene Name

GATA zinc finger domain containing 2B

Synonyms

p66beta, C430014D17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

90200488-90270712 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 90262978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049382] [ENSMUST00000197988] [ENSMUST00000199607] [ENSMUST00000199754]

AlphaFold

Q8VHR5

Predicted Effect

probably benign
Transcript: ENSMUST00000049382

SMART Domains

Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
Pfam:P66_CC	158	201	1.7e-21	PFAM
low complexity region	341	361	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
Pfam:GATA	421	455	1e-11	PFAM
coiled coil region	456	478	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196212

Predicted Effect

probably benign
Transcript: ENSMUST00000197988

SMART Domains

Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
coiled coil region	158	194	N/A	INTRINSIC
low complexity region	325	345	N/A	INTRINSIC
low complexity region	349	366	N/A	INTRINSIC
Pfam:GATA	405	439	9.3e-11	PFAM
coiled coil region	440	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199607

SMART Domains

Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
coiled coil region	158	194	N/A	INTRINSIC
low complexity region	341	361	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
Pfam:GATA	421	455	7.8e-11	PFAM
coiled coil region	456	478	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199754

SMART Domains

Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390

Domain	Start	End	E-Value	Type
low complexity region	130	146	N/A	INTRINSIC
coiled coil region	158	194	N/A	INTRINSIC
low complexity region	341	361	N/A	INTRINSIC
low complexity region	365	382	N/A	INTRINSIC
Pfam:GATA	421	455	7.8e-11	PFAM
coiled coil region	456	478	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200373

Predicted Effect

probably benign
Transcript: ENSMUST00000206907

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with mental retardation. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,341,817 (GRCm39)	V1048A	probably benign	Het
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,367,097 (GRCm39)	V810A	probably benign	Het
Atf1	T	A	15: 100,152,322 (GRCm39)	V105E	probably damaging	Het
Bbs9	C	T	9: 22,490,772 (GRCm39)	T300I	possibly damaging	Het
Bltp1	T	C	3: 37,059,022 (GRCm39)	V3236A	probably damaging	Het
Brd7	G	T	8: 89,078,452 (GRCm39)	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681 (GRCm38)	K238R	probably damaging	Het
Chordc1	A	G	9: 18,213,388 (GRCm39)	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,676,155 (GRCm39)	C126*	probably null	Het
Col24a1	A	T	3: 145,020,723 (GRCm39)	T365S	probably benign	Het
Crb1	C	T	1: 139,164,965 (GRCm39)	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,150,082 (GRCm39)	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,637,446 (GRCm39)	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,125,041 (GRCm39)	C294S	probably damaging	Het
Fam135a	A	G	1: 24,063,861 (GRCm39)		probably null	Het
Fsd1	G	T	17: 56,297,244 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,680,382 (GRCm39)	D232G	probably damaging	Het
Gm10553	T	C	1: 85,078,015 (GRCm39)	L44P	probably damaging	Het
Hecw1	T	C	13: 14,438,734 (GRCm39)	Y883C	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Ift172	T	C	5: 31,438,681 (GRCm39)		probably benign	Het
Krtcap3	A	C	5: 31,409,397 (GRCm39)	T55P	probably damaging	Het
Megf6	A	G	4: 154,355,149 (GRCm39)	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,379,574 (GRCm39)	V203A	probably damaging	Het
Myh2	A	T	11: 67,079,878 (GRCm39)	D1084V	possibly damaging	Het
Necap2	T	A	4: 140,805,621 (GRCm39)		probably benign	Het
Nemp1	A	G	10: 127,528,868 (GRCm39)	S191G	probably benign	Het
Nrip1	T	C	16: 76,088,380 (GRCm39)	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,110,020 (GRCm39)		probably benign	Het
Or51e1	G	A	7: 102,359,051 (GRCm39)	R195H	probably benign	Het
Or51f1d	A	G	7: 102,700,582 (GRCm39)	I26V	probably benign	Het
Prkdc	T	G	16: 15,627,623 (GRCm39)	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,837,317 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,397,422 (GRCm39)	L1095H	probably damaging	Het
Ren1	T	A	1: 133,286,771 (GRCm39)	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,888,134 (GRCm39)	I460T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924 (GRCm39)	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,046,153 (GRCm39)	S282P	probably benign	Het
Slc39a13	T	C	2: 90,893,505 (GRCm39)	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,295,556 (GRCm39)	I82T	probably benign	Het
Stard7	C	A	2: 127,132,792 (GRCm39)	T220N	probably damaging	Het
Tbx4	G	A	11: 85,805,389 (GRCm39)	G493R	possibly damaging	Het
Trerf1	A	T	17: 47,628,743 (GRCm39)		noncoding transcript	Het
Trim59	T	A	3: 68,944,810 (GRCm39)	I177L	probably benign	Het
Trpm7	T	C	2: 126,637,248 (GRCm39)	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,655,132 (GRCm39)	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,931,598 (GRCm39)	M25I	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr90	G	A	17: 26,069,408 (GRCm39)	T1233I	probably benign	Het
Zcchc2	G	A	1: 105,928,664 (GRCm39)	D308N	probably benign	Het
Zfp57	G	T	17: 37,320,481 (GRCm39)	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,622,135 (GRCm39)	Y388N	probably damaging	Het

Other mutations in Gatad2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Gatad2b	APN	3	90,259,385 (GRCm39)	missense	possibly damaging	0.93
IGL02672:Gatad2b	APN	3	90,249,198 (GRCm39)	missense	possibly damaging	0.77
IGL03030:Gatad2b	APN	3	90,249,244 (GRCm39)	missense	probably benign	0.11
FR4449:Gatad2b	UTSW	3	90,249,224 (GRCm39)	small deletion	probably benign
R0083:Gatad2b	UTSW	3	90,265,250 (GRCm39)	missense	probably damaging	1.00
R0108:Gatad2b	UTSW	3	90,265,250 (GRCm39)	missense	probably damaging	1.00
R0335:Gatad2b	UTSW	3	90,263,489 (GRCm39)	missense	probably benign	0.00
R0707:Gatad2b	UTSW	3	90,263,489 (GRCm39)	missense	probably benign	0.00
R1722:Gatad2b	UTSW	3	90,262,986 (GRCm39)	missense	probably damaging	1.00
R1782:Gatad2b	UTSW	3	90,249,178 (GRCm39)	missense	probably benign	0.01
R2138:Gatad2b	UTSW	3	90,259,420 (GRCm39)	missense	probably damaging	1.00
R5954:Gatad2b	UTSW	3	90,258,748 (GRCm39)	missense	probably damaging	1.00
R6834:Gatad2b	UTSW	3	90,255,950 (GRCm39)	missense	probably benign	0.00
R7104:Gatad2b	UTSW	3	90,258,724 (GRCm39)	missense	probably damaging	1.00
R7190:Gatad2b	UTSW	3	90,257,722 (GRCm39)	missense	probably benign	0.01
R7291:Gatad2b	UTSW	3	90,258,721 (GRCm39)	missense	probably damaging	0.99
R7760:Gatad2b	UTSW	3	90,261,776 (GRCm39)	missense	probably damaging	1.00
R7786:Gatad2b	UTSW	3	90,262,986 (GRCm39)	missense	probably damaging	0.99
R8113:Gatad2b	UTSW	3	90,249,029 (GRCm39)	missense	probably benign
R8836:Gatad2b	UTSW	3	90,263,507 (GRCm39)	missense	probably damaging	1.00
R9130:Gatad2b	UTSW	3	90,255,936 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16