Mutagenetix > Incidental Mutation

Incidental Mutation 'R1722:Gatad2b'

191528

Institutional Source

Beutler Lab

Gene Symbol

Gatad2b

Ensembl Gene

ENSMUSG00000042390

Gene Name

GATA zinc finger domain containing 2B

Synonyms

p66beta, C430014D17Rik

MMRRC Submission

039754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90200488-90270712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90262986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 476 (I476S)

Ref Sequence

ENSEMBL: ENSMUSP00000142514 (fasta)

Gene Model

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

AlphaFold

Q8VHR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000049382
AA Change: I476S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: I476S

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 damaging
Transcript: ENSMUST00000197988
AA Change: I460S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: I460S

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 damaging
Transcript: ENSMUST00000199607
AA Change: I476S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: I476S

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 damaging
Transcript: ENSMUST00000199754
AA Change: I476S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: I476S

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

unknown
Transcript: ENSMUST00000206907
AA Change: I226S

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	T	2: 103,824,273 (GRCm39)		probably null	Het
Adss1	A	T	12: 112,602,915 (GRCm39)	I346F	possibly damaging	Het
Ahnak	T	A	19: 8,988,019 (GRCm39)	L3101H	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Angptl1	C	T	1: 156,684,655 (GRCm39)	P275S	possibly damaging	Het
Apoa5	C	T	9: 46,181,847 (GRCm39)	Q308*	probably null	Het
Arhgef12	T	C	9: 42,932,013 (GRCm39)	*106W	probably null	Het
Atp2c1	A	G	9: 105,316,599 (GRCm39)	Y485H	probably benign	Het
Atp6v1b1	C	T	6: 83,720,074 (GRCm39)	T3I	possibly damaging	Het
Btbd7	A	T	12: 102,778,913 (GRCm39)	I451N	possibly damaging	Het
Clasp1	T	G	1: 118,518,194 (GRCm39)	L1080R	probably damaging	Het
Clec4f	A	G	6: 83,623,915 (GRCm39)	V408A	probably benign	Het
Clint1	T	A	11: 45,797,233 (GRCm39)	M438K	possibly damaging	Het
Cuzd1	A	T	7: 130,913,373 (GRCm39)	Y415N	probably damaging	Het
Ddias	A	G	7: 92,509,250 (GRCm39)	F222L	possibly damaging	Het
Efcab7	A	T	4: 99,757,815 (GRCm39)	T321S	probably benign	Het
Elp3	A	T	14: 65,788,846 (GRCm39)	D393E	probably benign	Het
Fbn2	T	C	18: 58,181,124 (GRCm39)		probably null	Het
Fcgr3	T	C	1: 170,881,688 (GRCm39)	R146G	possibly damaging	Het
Fkrp	G	A	7: 16,544,719 (GRCm39)	A381V	probably benign	Het
Gm1527	C	T	3: 28,975,783 (GRCm39)	H557Y	probably benign	Het
Gm2431	A	T	7: 141,811,599 (GRCm39)	C102S	unknown	Het
Hoxd13	A	G	2: 74,500,389 (GRCm39)	N310S	probably benign	Het
Il9	T	A	13: 56,627,208 (GRCm39)	T135S	probably benign	Het
Ints4	A	C	7: 97,162,786 (GRCm39)	N476T	probably benign	Het
Kcnq4	A	C	4: 120,559,624 (GRCm39)	D525E	probably benign	Het
Kncn	A	T	4: 115,743,096 (GRCm39)	Y57F	probably damaging	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Lrrfip2	A	G	9: 111,028,829 (GRCm39)	T351A	probably damaging	Het
Madd	T	C	2: 90,997,982 (GRCm39)	E682G	probably benign	Het
Marchf7	A	C	2: 60,064,526 (GRCm39)	R267S	probably damaging	Het
Mmp16	T	A	4: 18,051,767 (GRCm39)	L252Q	probably damaging	Het
Mri1	A	T	8: 84,980,554 (GRCm39)	V296D	possibly damaging	Het
Myo3a	A	G	2: 22,404,638 (GRCm39)	T665A	probably benign	Het
N4bp2	T	C	5: 65,964,225 (GRCm39)	V758A	probably benign	Het
Nbea	T	C	3: 55,573,116 (GRCm39)	D2489G	probably damaging	Het
Neb	T	C	2: 52,146,757 (GRCm39)	T2836A	probably damaging	Het
Nedd4l	T	A	18: 65,291,010 (GRCm39)	V203E	probably damaging	Het
Nkpd1	C	A	7: 19,257,846 (GRCm39)	Q392K	possibly damaging	Het
Nploc4	G	T	11: 120,273,395 (GRCm39)	A576E	probably benign	Het
Nxph1	T	A	6: 9,247,516 (GRCm39)	N162K	probably damaging	Het
Or3a1	T	C	11: 74,225,271 (GRCm39)	Y262C	probably damaging	Het
Or7c70	T	A	10: 78,682,805 (GRCm39)	T315S	probably benign	Het
Pabpc2	T	G	18: 39,908,169 (GRCm39)	I478S	probably benign	Het
Pde7b	G	T	10: 20,311,990 (GRCm39)	H190Q	probably damaging	Het
Plekha2	A	T	8: 25,532,976 (GRCm39)	S332T	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rasl11a	A	T	5: 146,782,052 (GRCm39)	H9L	probably benign	Het
Rer1	A	T	4: 155,159,458 (GRCm39)	F177I	probably damaging	Het
Rinl	T	C	7: 28,491,669 (GRCm39)	L74P	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,991,655 (GRCm39)	V78A	probably benign	Het
Skint5	A	T	4: 113,703,508 (GRCm39)		probably null	Het
Tenm2	A	C	11: 35,898,930 (GRCm39)	Y2743D	probably damaging	Het
Tmem101	T	C	11: 102,045,519 (GRCm39)	Y110C	probably damaging	Het
Trim9	T	C	12: 70,295,148 (GRCm39)	N658S	probably benign	Het
Ucp1	A	T	8: 84,017,317 (GRCm39)	T36S	probably benign	Het
Vmn2r43	A	G	7: 8,258,067 (GRCm39)	I382T	probably damaging	Het
Zfp142	C	T	1: 74,608,935 (GRCm39)	R1620Q	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	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
IGL02172:Gatad2b	APN	3	90,262,978 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCGTTAAGACGCTCAGGTCC -3'
(R):5'- TCCTGAAGAAGCATAGCCCCTAAGAG -3'

Sequencing Primer
(F):5'- gcacttgcttcccagatcc -3'
(R):5'- CCCCTAAGAGAAAGGAGGGTTATG -3'

Posted On

2014-05-14