Mutagenetix > Incidental Mutation

Incidental Mutation 'R9480:Gatad2a'

716192

Institutional Source

Beutler Lab

Gene Symbol

Gatad2a

Ensembl Gene

ENSMUSG00000036180

Gene Name

GATA zinc finger domain containing 2A

Synonyms

1110066C11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9480 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70359726-70449034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70388459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 76 (D76G)

Ref Sequence

ENSEMBL: ENSMUSP00000070229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065169] [ENSMUST00000116463] [ENSMUST00000177851] [ENSMUST00000211960] [ENSMUST00000212277] [ENSMUST00000212478]

AlphaFold

Q8CHY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000065169
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: D76G

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

probably damaging
Transcript: ENSMUST00000116463
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: D76G

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

probably damaging
Transcript: ENSMUST00000177851
AA Change: D76G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: D76G

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

probably damaging
Transcript: ENSMUST00000211960
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212277
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212478
AA Change: D76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,211,889 (GRCm39)	W142R	probably damaging	Het
Abcc6	A	G	7: 45,629,197 (GRCm39)	S1350P	probably damaging	Het
Abraxas2	G	T	7: 132,473,323 (GRCm39)	V84L	probably benign	Het
Adam12	T	A	7: 133,736,470 (GRCm39)	I81F	probably damaging	Het
Adam22	A	G	5: 8,193,077 (GRCm39)	V376A	probably benign	Het
Anapc11	T	A	11: 120,496,176 (GRCm39)	I60N	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,690,420 (GRCm39)	V876E	possibly damaging	Het
Bcar3	C	T	3: 122,277,618 (GRCm39)	R21*	probably null	Het
Calb1	T	A	4: 15,885,608 (GRCm39)	S60T	probably benign	Het
Ceacam9	A	G	7: 16,457,783 (GRCm39)	T99A	probably damaging	Het
Cemip2	C	A	19: 21,775,622 (GRCm39)	H288Q	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cnot1	T	C	8: 96,497,338 (GRCm39)	D213G	possibly damaging	Het
Col23a1	T	A	11: 51,207,774 (GRCm39)	C105S	unknown	Het
Cxcl2	T	C	5: 91,052,029 (GRCm39)	V45A	possibly damaging	Het
Ddx21	T	C	10: 62,434,652 (GRCm39)	T36A	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dus2	C	T	8: 106,757,052 (GRCm39)	Q81*	probably null	Het
Fat3	T	C	9: 15,942,703 (GRCm39)	D1223G	probably damaging	Het
Fgf3	G	T	7: 144,396,619 (GRCm39)	R211L	possibly damaging	Het
Galnt17	T	A	5: 130,935,576 (GRCm39)	E369V	probably damaging	Het
Gin1	A	G	1: 97,705,198 (GRCm39)	E96G	probably damaging	Het
Gpr55	A	C	1: 85,868,977 (GRCm39)	Y201*	probably null	Het
Hgsnat	T	C	8: 26,442,029 (GRCm39)	N499D	possibly damaging	Het
Hipk2	G	T	6: 38,680,377 (GRCm39)	P988T	probably benign	Het
Hivep1	A	T	13: 42,337,058 (GRCm39)	Q2379L	probably damaging	Het
Kat14	T	A	2: 144,215,745 (GRCm39)	C77S	probably damaging	Het
Klhl25	T	C	7: 75,516,120 (GRCm39)	V342A	probably damaging	Het
Krt35	T	C	11: 99,986,609 (GRCm39)	Q135R	probably benign	Het
Lhfpl2	T	A	13: 94,310,733 (GRCm39)	M1K	probably null	Het
Lipk	T	A	19: 33,999,101 (GRCm39)	L132Q	probably damaging	Het
Lrrc39	T	A	3: 116,359,475 (GRCm39)	C7S	probably benign	Het
Ltb4r2	T	A	14: 56,000,089 (GRCm39)	W237R	probably damaging	Het
Mesp2	A	G	7: 79,461,034 (GRCm39)	I120V	probably damaging	Het
Mfsd6	A	G	1: 52,699,835 (GRCm39)	V771A	unknown	Het
Mtfmt	A	T	9: 65,351,181 (GRCm39)	T243S	possibly damaging	Het
Nlrp12	A	T	7: 3,288,993 (GRCm39)	C506*	probably null	Het
Ntng2	T	A	2: 29,137,997 (GRCm39)	Y19F	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
P4hb	A	T	11: 120,463,551 (GRCm39)	V28D	probably damaging	Het
Phkb	T	G	8: 86,684,216 (GRCm39)	S424R	probably benign	Het
Poldip2	T	C	11: 78,411,988 (GRCm39)	L308S	probably damaging	Het
Prkd1	T	A	12: 50,435,283 (GRCm39)	E481D	probably benign	Het
Serping1	C	T	2: 84,600,487 (GRCm39)	S285N	probably benign	Het
Sh2d2a	A	C	3: 87,759,638 (GRCm39)	I350L	probably benign	Het
Siglecf	G	T	7: 43,001,666 (GRCm39)	V159L	possibly damaging	Het
Sspo	A	G	6: 48,470,820 (GRCm39)	N36S	probably damaging	Het
Sytl2	C	T	7: 90,020,718 (GRCm39)	T147M	possibly damaging	Het
Tmc7	A	G	7: 118,141,226 (GRCm39)	F635S	probably benign	Het
Tmco1	C	T	1: 167,157,757 (GRCm39)	L175F		Het
Ttc39d	A	G	17: 80,524,139 (GRCm39)	H266R	probably benign	Het
Usp33	T	G	3: 152,079,086 (GRCm39)	I446R	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zbtb49	T	A	5: 38,358,409 (GRCm39)	T615S	possibly damaging	Het
Zbtb8a	G	T	4: 129,253,875 (GRCm39)	H206Q	probably benign	Het
Zfp180	A	G	7: 23,804,628 (GRCm39)	N349S	probably benign	Het
Zfp345	A	T	2: 150,315,212 (GRCm39)	C108*	probably null	Het
Zfp420	T	A	7: 29,575,497 (GRCm39)	H572Q	probably benign	Het
Zfp423	A	G	8: 88,631,115 (GRCm39)		probably null	Het
Zfp820	T	A	17: 22,037,994 (GRCm39)	T445S	possibly damaging	Het
Zim1	T	C	7: 6,681,050 (GRCm39)	I204M	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Gatad2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Gatad2a	APN	8	70,362,598 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- GGAATGTTTCAGTCCTCCCAC -3'
(R):5'- CCCTTGAACCTGACCTAACG -3'

Sequencing Primer
(F):5'- GTTTCAGTCCTCCCACAATCCAAG -3'
(R):5'- CTAACGGAGGATGATGTGGAGAAC -3'

Posted On

2022-07-18