Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01774:Gatc'

154052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatc

Ensembl Gene

ENSMUSG00000029536

Gene Name

glutamyl-tRNA amidotransferase subunit C

Synonyms

2010003O18Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

115471301-115479220 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 115479076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 45 (Q45*)

Ref Sequence

ENSEMBL: ENSMUSP00000115090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031508] [ENSMUST00000040154] [ENSMUST00000139167]

AlphaFold

Q8CBY0

Predicted Effect

probably null
Transcript: ENSMUST00000031508

SMART Domains

Protein: ENSMUSP00000031508
Gene: ENSMUSG00000029535

Domain	Start	End	E-Value	Type
Pfam:UPF0203	1	70	1.1e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040154

SMART Domains

Protein: ENSMUSP00000047661
Gene: ENSMUSG00000041697

Domain	Start	End	E-Value	Type
Pfam:COX6A	24	105	2.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137766

Predicted Effect

probably null
Transcript: ENSMUST00000139167
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536
AA Change: Q45*

Domain	Start	End	E-Value	Type
Pfam:Glu-tRNAGln	69	134	2e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,077,058 (GRCm39)	D708G	probably damaging	Het
Abca16	T	C	7: 120,021,024 (GRCm39)		probably benign	Het
Abcc5	T	C	16: 20,197,207 (GRCm39)	D674G	probably damaging	Het
Abr	A	G	11: 76,355,125 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,619,363 (GRCm39)	I4T	possibly damaging	Het
Btla	A	G	16: 45,070,911 (GRCm39)	N290S	possibly damaging	Het
Catip	C	A	1: 74,407,642 (GRCm39)	R325S	probably damaging	Het
Cep120	A	G	18: 53,839,902 (GRCm39)	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,006,133 (GRCm39)	I221V	probably benign	Het
Eloc	A	T	1: 16,716,013 (GRCm39)	D37E	probably benign	Het
Fabp12	A	C	3: 10,312,754 (GRCm39)	N89K	probably benign	Het
Ficd	G	T	5: 113,877,073 (GRCm39)	R416L	probably damaging	Het
Frmd3	T	C	4: 74,106,075 (GRCm39)	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,540,047 (GRCm39)		probably benign	Het
Gm5414	T	C	15: 101,535,410 (GRCm39)	D225G	probably benign	Het
Itpkc	G	T	7: 26,911,795 (GRCm39)	A592E	probably benign	Het
Kl	G	T	5: 150,911,948 (GRCm39)	V566L	probably benign	Het
Lpin1	T	A	12: 16,608,477 (GRCm39)	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,692,880 (GRCm39)	Y483C	probably damaging	Het
Neb	C	T	2: 52,112,982 (GRCm39)	W67*	probably null	Het
Nrarp	T	C	2: 25,071,298 (GRCm39)	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or52n20	T	C	7: 104,320,149 (GRCm39)	I80T	probably benign	Het
Pacs2	T	A	12: 113,020,462 (GRCm39)	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,276 (GRCm39)	K420R	probably benign	Het
Rag2	A	G	2: 101,460,392 (GRCm39)	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,440,554 (GRCm39)	Q88*	probably null	Het
Rictor	T	C	15: 6,799,258 (GRCm39)	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,871,339 (GRCm39)	Q276*	probably null	Het
Tas2r134	C	T	2: 51,518,160 (GRCm39)	T213I	probably benign	Het
Tecpr1	A	G	5: 144,148,358 (GRCm39)	I349T	probably damaging	Het
Tnxb	T	C	17: 34,907,813 (GRCm39)	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,513,113 (GRCm39)	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,889 (GRCm39)	I229L	probably benign	Het
Vnn1	T	C	10: 23,776,608 (GRCm39)	Y320H	probably benign	Het
Zfp990	T	C	4: 145,263,518 (GRCm39)	V172A	probably benign	Het

Other mutations in Gatc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Gatc	APN	5	115,479,048 (GRCm39)	missense	possibly damaging	0.67
R1022:Gatc	UTSW	5	115,478,904 (GRCm39)	splice site	probably null
R1024:Gatc	UTSW	5	115,478,904 (GRCm39)	splice site	probably null
R3153:Gatc	UTSW	5	115,473,546 (GRCm39)	missense	probably benign	0.24
R3612:Gatc	UTSW	5	115,473,545 (GRCm39)	missense	probably benign	0.42
R4666:Gatc	UTSW	5	115,473,606 (GRCm39)	missense	probably benign	0.01

Posted On

2014-02-04