Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Gatad2b'

408406

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 #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

90200488-90270712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90249244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 94 (G94V)

Ref Sequence

ENSEMBL: ENSMUSP00000142514 (fasta)

Gene Model

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

AlphaFold

Q8VHR5

Predicted Effect

probably benign
Transcript: ENSMUST00000049382
AA Change: G94V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041370
Gene: ENSMUSG00000042390
AA Change: G94V

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
AA Change: G94V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143085
Gene: ENSMUSG00000042390
AA Change: G94V

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: G94V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142617
Gene: ENSMUSG00000042390
AA Change: G94V

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: G94V

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142514
Gene: ENSMUSG00000042390
AA Change: G94V

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: ENSMUST00000199820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205797

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	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
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

2016-08-02