Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Gatad2a'

721989

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 #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70359726-70449034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70370381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 172 (A172S)

Ref Sequence

ENSEMBL: ENSMUSP00000070229 (fasta)

Gene Model

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

AlphaFold

Q8CHY6

Predicted Effect

probably benign
Transcript: ENSMUST00000065169
AA Change: A172S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000070229
Gene: ENSMUSG00000036180
AA Change: A172S

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 benign
Transcript: ENSMUST00000116463
AA Change: A172S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112164
Gene: ENSMUSG00000036180
AA Change: A172S

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: ENSMUST00000177851
AA Change: A172S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000137386
Gene: ENSMUSG00000036180
AA Change: A172S

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 benign
Transcript: ENSMUST00000212277

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	possibly damaging	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
R9480:Gatad2a	UTSW	8	70,388,459 (GRCm39)	missense	probably damaging	1.00
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'- TTGCCAGCAGGAATGTTCTG -3'
(R):5'- TGAAAGACACCAGCACTGAG -3'

Sequencing Primer
(F):5'- CCAGCAGGAATGTTCTGGGTAC -3'
(R):5'- AGCACTGAGGCGCTCTTG -3'

Posted On

2022-08-09