Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:Gatad2a'

546685

Institutional Source

Beutler Lab

Gene Symbol

Gatad2a

Ensembl Gene

ENSMUSG00000036180

Gene Name

GATA zinc finger domain containing 2A

Synonyms

1110066C11Rik

MMRRC Submission

045012-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70359726-70449034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70370644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 114 (N114K)

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: N114K

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

SMART Domains

Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: N114K

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: N114K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: N114K

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: N114K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: N114K

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 benign
Transcript: ENSMUST00000211960

Predicted Effect

probably damaging
Transcript: ENSMUST00000212277
AA Change: N114K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212478
AA Change: N114K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Ahnak2	A	G	12: 112,745,216 (GRCm39)		probably benign	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,740,041 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,082,206 (GRCm39)	E145Q	probably benign	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Arsj	T	C	3: 126,158,649 (GRCm39)	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Bcl6	A	T	16: 23,793,611 (GRCm39)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,668,843 (GRCm39)	T579S	possibly damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,171,722 (GRCm39)	I379V	probably benign	Het
Cndp2	T	A	18: 84,688,070 (GRCm39)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,593,864 (GRCm39)	R254S	probably benign	Het
Dop1b	T	A	16: 93,574,378 (GRCm39)	D30E	probably benign	Het
Duox2	T	G	2: 122,110,934 (GRCm39)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,487,427 (GRCm39)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Emc8	A	T	8: 121,385,790 (GRCm39)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,371,322 (GRCm39)	T720A	probably benign	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Fem1b	T	A	9: 62,704,310 (GRCm39)	I317F	probably damaging	Het
Focad	A	G	4: 88,042,874 (GRCm39)	E36G	probably benign	Het
Fryl	C	T	5: 73,212,951 (GRCm39)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Garin3	G	A	11: 46,298,235 (GRCm39)	S513N		Het
Gcnt2	CTAATG	C	13: 41,041,032 (GRCm39)		probably null	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
Gsn	T	A	2: 35,182,611 (GRCm39)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Ints14	T	C	9: 64,871,827 (GRCm39)	V55A	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Klf1	C	T	8: 85,629,379 (GRCm39)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,683,741 (GRCm39)	E333G	probably null	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,002,354 (GRCm39)	D2001G	possibly damaging	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Lrrc71	T	C	3: 87,655,693 (GRCm39)	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,628,069 (GRCm39)	V958A	possibly damaging	Het
Med15	A	T	16: 17,516,019 (GRCm39)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nat10	T	C	2: 103,584,453 (GRCm39)	N108S	probably benign	Het
Ncald	A	T	15: 37,369,122 (GRCm39)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Or5ak25	A	G	2: 85,268,774 (GRCm39)	S243P	probably damaging	Het
Or5d39	T	A	2: 87,979,469 (GRCm39)	D298V	probably damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,441,835 (GRCm39)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Popdc2	A	T	16: 38,183,173 (GRCm39)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rrh	T	C	3: 129,609,342 (GRCm39)	E55G	possibly damaging	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Sds	A	T	5: 120,618,912 (GRCm39)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,405,551 (GRCm39)	P38T	unknown	Het
Tcl1	T	C	12: 105,183,860 (GRCm39)		probably benign	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdr70	T	C	15: 7,913,855 (GRCm39)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,111,856 (GRCm39)	P445L	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCTTGATCATCCGCTC -3'
(R):5'- TGGCCCTAATGACCAGTGATG -3'

Sequencing Primer
(F):5'- GCTCTCGTTCTTCTGGGCTG -3'
(R):5'- ACCAGTGATGATACCCATGGTGC -3'

Posted On

2019-05-13