Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Gatad2b'

559530

Institutional Source

Beutler Lab

Gene Symbol

Gatad2b

Ensembl Gene

ENSMUSG00000042390

Gene Name

GATA zinc finger domain containing 2B

Synonyms

p66beta, C430014D17Rik

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90200488-90270712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90257722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 210 (I210N)

Ref Sequence

ENSEMBL: ENSMUSP00000041370 (fasta)

Gene Model

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

AlphaFold

Q8VHR5

Predicted Effect

probably benign
Transcript: ENSMUST00000049382
AA Change: I210N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: I210N

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

probably benign
Transcript: ENSMUST00000197988
AA Change: I210N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: I210N

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
AA Change: I210N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: I210N

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
AA Change: I210N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: I210N

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: ENSMUST00000206907

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Add3	C	T	19: 53,205,330 (GRCm39)	R27*	probably null	Het
Armc3	T	A	2: 19,297,947 (GRCm39)	Y573N	probably damaging	Het
Bod1l	A	C	5: 41,977,281 (GRCm39)	N1344K	probably benign	Het
Camta1	T	G	4: 151,232,980 (GRCm39)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,120 (GRCm39)	Y57*	probably null	Het
Ccdc168	A	C	1: 44,100,775 (GRCm39)	S108A	probably benign	Het
Ccdc186	T	A	19: 56,780,432 (GRCm39)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,359,574 (GRCm39)		probably null	Het
Dnah2	G	T	11: 69,439,923 (GRCm39)		probably null	Het
Fhod3	T	C	18: 25,223,812 (GRCm39)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,223,201 (GRCm39)	Y201H	possibly damaging	Het
Gba1	T	A	3: 89,111,669 (GRCm39)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,339,208 (GRCm39)	V420A	probably benign	Het
Golga3	T	A	5: 110,357,721 (GRCm39)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,203,992 (GRCm39)	A318T	probably benign	Het
Gpr6	T	C	10: 40,946,956 (GRCm39)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,709,946 (GRCm39)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,557,818 (GRCm39)	H307Y	unknown	Het
Il20ra	A	T	10: 19,618,689 (GRCm39)	I46F	probably damaging	Het
Lvrn	A	G	18: 47,033,570 (GRCm39)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,752,198 (GRCm39)	D728E	probably damaging	Het
Nup107	T	C	10: 117,598,040 (GRCm39)	D630G	probably benign	Het
Or1e19	A	T	11: 73,315,990 (GRCm39)	I273N	probably benign	Het
Or6c5c	T	C	10: 129,298,626 (GRCm39)	I27T	probably benign	Het
Pclo	C	A	5: 14,729,743 (GRCm39)	A2867D	unknown	Het
Perm1	A	G	4: 156,304,272 (GRCm39)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,541,325 (GRCm39)	V162L	probably benign	Het
Plscr4	A	T	9: 92,370,694 (GRCm39)	E220D	probably benign	Het
Ppp2r3d	A	T	9: 101,089,726 (GRCm39)	M199K	probably benign	Het
Pramel38	T	G	5: 94,366,096 (GRCm39)	N71K	probably benign	Het
Rassf6	T	C	5: 90,754,666 (GRCm39)	E204G	probably damaging	Het
Reln	A	C	5: 22,252,945 (GRCm39)	D667E	probably damaging	Het
Rere	A	G	4: 150,695,410 (GRCm39)	I462V	unknown	Het
Rpain	A	G	11: 70,862,735 (GRCm39)	E76G	possibly damaging	Het
Strc	T	G	2: 121,199,507 (GRCm39)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm39)	M1385V	probably benign	Het
Syne2	T	A	12: 76,113,361 (GRCm39)	D1083E	probably benign	Het
Szt2	T	A	4: 118,246,203 (GRCm39)	H986L	probably damaging	Het
Tcl1b2	G	T	12: 105,113,493 (GRCm39)		probably null	Het
Thy1	T	A	9: 43,958,222 (GRCm39)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,282,496 (GRCm39)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,644,491 (GRCm39)	I118V	probably benign	Het
Tsen34	T	C	7: 3,697,806 (GRCm39)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,717,143 (GRCm39)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 25,967,105 (GRCm39)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,398,205 (GRCm39)	D810G	probably benign	Het
Zer1	T	C	2: 29,993,444 (GRCm39)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,517,768 (GRCm39)	T250S	probably benign	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
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
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'- AACTTAACTGAATTTGACCTCTAGGG -3'
(R):5'- AATGCTGATTAGTGGCTACAAAG -3'

Sequencing Primer
(F):5'- CCTCTAGGGTTTTTGGCTTAGG -3'
(R):5'- ATGCATGTGAATGCCATGCC -3'

Posted On

2019-06-26