Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Gatad2a'

182384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatad2a

Ensembl Gene

ENSMUSG00000036180

Gene Name

GATA zinc finger domain containing 2A

Synonyms

1110066C11Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

70359726-70449034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70362598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 581 (S581R)

Ref Sequence

ENSEMBL: ENSMUSP00000137386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065169] [ENSMUST00000116463] [ENSMUST00000177851] [ENSMUST00000212478]

AlphaFold

Q8CHY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065169
AA Change: S597R

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: S597R

Domain	Start	End	E-Value	Type
low complexity region	66	77	N/A	INTRINSIC
Pfam:P66_CC	132	175	8.1e-24	PFAM
low complexity region	276	289	N/A	INTRINSIC
low complexity region	322	339	N/A	INTRINSIC
low complexity region	340	352	N/A	INTRINSIC
low complexity region	360	367	N/A	INTRINSIC
low complexity region	465	478	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116463
AA Change: S596R

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: S596R

Domain	Start	End	E-Value	Type
low complexity region	66	77	N/A	INTRINSIC
coiled coil region	135	169	N/A	INTRINSIC
low complexity region	275	288	N/A	INTRINSIC
low complexity region	321	338	N/A	INTRINSIC
low complexity region	339	351	N/A	INTRINSIC
low complexity region	359	366	N/A	INTRINSIC
low complexity region	464	477	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177851
AA Change: S581R

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: S581R

Domain	Start	End	E-Value	Type
low complexity region	66	77	N/A	INTRINSIC
coiled coil region	135	169	N/A	INTRINSIC
low complexity region	275	288	N/A	INTRINSIC
low complexity region	321	338	N/A	INTRINSIC
low complexity region	339	351	N/A	INTRINSIC
low complexity region	359	366	N/A	INTRINSIC
low complexity region	464	477	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212478
AA Change: S596R

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die around E9.5 displaying variable developmental defects, including malformed or unfused neural folds, failure of closure of anterior neuropore, missing or excessively large blood vessels in the yolk sac, abnormal embryo turning, and embryonic growth arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Gatad2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1730:Gatad2a	UTSW	8	70,362,586 (GRCm39)	missense	probably damaging	1.00
R1783:Gatad2a	UTSW	8	70,362,586 (GRCm39)	missense	probably damaging	1.00
R1894:Gatad2a	UTSW	8	70,369,301 (GRCm39)	missense	probably damaging	1.00
R1982:Gatad2a	UTSW	8	70,365,782 (GRCm39)	nonsense	probably null
R3762:Gatad2a	UTSW	8	70,368,930 (GRCm39)	splice site	probably null
R5241:Gatad2a	UTSW	8	70,370,667 (GRCm39)	nonsense	probably null
R5526:Gatad2a	UTSW	8	70,388,591 (GRCm39)	missense	probably damaging	1.00
R5532:Gatad2a	UTSW	8	70,369,070 (GRCm39)	missense	probably damaging	1.00
R6664:Gatad2a	UTSW	8	70,370,139 (GRCm39)	missense	probably damaging	1.00
R7036:Gatad2a	UTSW	8	70,370,644 (GRCm39)	missense	probably damaging	1.00
R8993:Gatad2a	UTSW	8	70,362,585 (GRCm39)	missense	probably damaging	1.00
R9480:Gatad2a	UTSW	8	70,388,459 (GRCm39)	missense	probably damaging	1.00
R9571:Gatad2a	UTSW	8	70,370,381 (GRCm39)	missense	probably benign	0.02
R9752:Gatad2a	UTSW	8	70,364,839 (GRCm39)	missense	probably benign	0.01
Z1176:Gatad2a	UTSW	8	70,388,688 (GRCm39)	critical splice acceptor site	probably null

Posted On

2014-05-07