Mutagenetix > Incidental Mutation

Incidental Mutation 'R1239:Gatd3a'

151891

Institutional Source

Beutler Lab

Gene Symbol

Gatd3a

Ensembl Gene

ENSMUSG00000053329

Gene Name

glutamine amidotransferase like class 1 domain containing 3A

Synonyms

D10Jhu81e

MMRRC Submission

039306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77997900-78005589 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 78004761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001242] [ENSMUST00000042556] [ENSMUST00000219120]

AlphaFold

Q9D172

Predicted Effect

probably benign
Transcript: ENSMUST00000001242

SMART Domains

Protein: ENSMUSP00000001242
Gene: ENSMUSG00000053329

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
SCOP:d1cf9a1	40	239	3e-21	SMART
PDB:1OY1\|D	42	263	2e-58	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000042556

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834

Domain	Start	End	E-Value	Type
WD40	43	83	1.47e2	SMART
WD40	86	123	1.78e1	SMART
WD40	133	172	5.35e-1	SMART
WD40	177	216	8.29e-1	SMART
low complexity region	239	254	N/A	INTRINSIC
WD40	273	316	1.9e2	SMART
WD40	319	359	4.44e0	SMART
WD40	362	401	7.44e-8	SMART
WD40	404	443	3.87e-6	SMART
WD40	446	487	5.7e1	SMART
WD40	490	529	1.28e-11	SMART
WD40	533	571	9.94e-1	SMART
WD40	594	633	4.95e0	SMART
WD40	692	729	2.21e1	SMART
Pfam:Utp12	771	875	9.4e-25	PFAM
low complexity region	890	902	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218286

Predicted Effect

probably benign
Transcript: ENSMUST00000219120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219504

Predicted Effect

probably benign
Transcript: ENSMUST00000220359

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Adcy8	G	T	15: 64,587,911 (GRCm39)	R959S	probably damaging	Het
Ank1	A	G	8: 23,586,171 (GRCm39)	N455D	probably damaging	Het
Ankrd17	T	C	5: 90,436,535 (GRCm39)	T589A	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Celsr1	G	T	15: 85,863,347 (GRCm39)	N1228K	probably damaging	Het
Ces4a	T	C	8: 105,876,130 (GRCm39)	L557P	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Clba1	A	G	12: 112,773,123 (GRCm39)	R39G	probably benign	Het
Col27a1	T	C	4: 63,237,152 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,527,415 (GRCm39)	A100S	probably damaging	Het
Cpsf6	G	A	10: 117,197,248 (GRCm39)		probably benign	Het
Cyp1a2	A	G	9: 57,589,050 (GRCm39)	F255L	probably benign	Het
Dnajc6	T	C	4: 101,492,313 (GRCm39)	Y783H	probably damaging	Het
E230025N22Rik	T	C	18: 36,818,528 (GRCm39)	I434V	probably damaging	Het
Ermap	T	C	4: 119,046,122 (GRCm39)	K3E	probably benign	Het
Gstm2	G	A	3: 107,891,344 (GRCm39)	L125F	possibly damaging	Het
Hk2	C	T	6: 82,726,289 (GRCm39)	G58R	probably damaging	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Matcap2	GTTCTTC	GTTC	9: 22,335,995 (GRCm39)		probably benign	Het
Mgmt	T	C	7: 136,729,786 (GRCm39)	F200S	probably benign	Het
Mug2	T	G	6: 122,058,637 (GRCm39)		probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or5an11	G	T	19: 12,246,340 (GRCm39)	V249F	probably damaging	Het
Or5b109	G	A	19: 13,212,040 (GRCm39)	C142Y	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Phc3	A	G	3: 30,968,279 (GRCm39)	V886A	probably damaging	Het
Plcg2	T	A	8: 118,282,783 (GRCm39)	V88D	probably benign	Het
Podxl2	C	T	6: 88,826,965 (GRCm39)	V50I	probably benign	Het
Rap1gap	G	T	4: 137,445,307 (GRCm39)	M329I	probably damaging	Het
Rbm5	A	G	9: 107,630,165 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,821,430 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,897,929 (GRCm39)		probably null	Het
Skida1	A	C	2: 18,052,128 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,243,781 (GRCm39)	F2024L	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Vmn1r16	C	T	6: 57,300,618 (GRCm39)	M1I	probably null	Het
Zbtb39	G	T	10: 127,578,938 (GRCm39)	G504V	probably damaging	Het
Zfp1004	T	C	2: 150,033,891 (GRCm39)	Y71H	possibly damaging	Het
Zfp106	A	T	2: 120,364,075 (GRCm39)	N777K	probably damaging	Het

Other mutations in Gatd3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0834:Gatd3a	UTSW	10	77,998,539 (GRCm39)	missense	probably damaging	1.00
R4496:Gatd3a	UTSW	10	77,999,377 (GRCm39)	missense	probably damaging	1.00
R5224:Gatd3a	UTSW	10	77,999,367 (GRCm39)	missense	probably damaging	1.00
R6476:Gatd3a	UTSW	10	78,003,347 (GRCm39)	missense	probably damaging	1.00
R7956:Gatd3a	UTSW	10	77,999,405 (GRCm39)	splice site	probably null
R8862:Gatd3a	UTSW	10	78,005,461 (GRCm39)	missense	probably damaging	0.96
R8972:Gatd3a	UTSW	10	78,003,323 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTCCAGAACAGCCGGATGACAG -3'
(R):5'- TCAGTCAGTAAAAGGATGCCTTGCC -3'

Sequencing Primer
(F):5'- TTTGAGGGACAGACACTTGATCAC -3'
(R):5'- AAGGATGCCTTGCCTACTTATTCTG -3'

Posted On

2014-01-29