Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02136:Gatd1'

281335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatd1

Ensembl Gene

ENSMUSG00000051007

Gene Name

glutamine amidotransferase like class 1 domain containing 1

Synonyms

Pddc1, D230016J19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

140988097-140994038 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 140988873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 221 (*221Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106008]

AlphaFold

Q8BFQ8

Predicted Effect

probably null
Transcript: ENSMUST00000106008
AA Change: *221Q

SMART Domains

Protein: ENSMUSP00000101630
Gene: ENSMUSG00000051007
AA Change: *221Q

Domain	Start	End	E-Value	Type
PDB:1U9C\|A	29	220	7e-10	PDB
SCOP:d1g2ia_	54	206	7e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209276

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
Abca12	G	T	1: 71,286,301 (GRCm39)	T2511K	probably damaging	Het
Acta2	T	A	19: 34,229,230 (GRCm39)	D53V	probably damaging	Het
Banf1	G	A	19: 5,415,098 (GRCm39)	A71V	probably benign	Het
Cacng5	A	T	11: 107,772,557 (GRCm39)	I97N	probably benign	Het
Clec14a	T	A	12: 58,315,415 (GRCm39)	E69V	probably damaging	Het
Cracr2a	T	C	6: 127,606,893 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,085,149 (GRCm39)	R845G	probably benign	Het
Dzip3	T	C	16: 48,747,945 (GRCm39)	N949S	possibly damaging	Het
Eprs1	T	G	1: 185,117,180 (GRCm39)	W408G	probably damaging	Het
Fgf14	G	A	14: 124,217,784 (GRCm39)	P240S	possibly damaging	Het
Fpgt	G	T	3: 154,798,989 (GRCm39)	A2E	probably benign	Het
Galntl5	T	A	5: 25,425,060 (GRCm39)	S392R	probably benign	Het
Gcsam	T	A	16: 45,430,896 (GRCm39)	M1K	probably null	Het
Ksr2	A	G	5: 117,754,959 (GRCm39)	N351S	possibly damaging	Het
Map1a	T	C	2: 121,130,693 (GRCm39)	V503A	probably damaging	Het
Myl12a	T	A	17: 71,303,851 (GRCm39)	K9*	probably null	Het
Ncapg2	A	T	12: 116,424,203 (GRCm39)	M1129L	probably benign	Het
Or11g2	T	C	14: 50,855,708 (GRCm39)	S10P	possibly damaging	Het
Or8k41	T	C	2: 86,313,809 (GRCm39)	I92M	probably damaging	Het
Otof	T	C	5: 30,531,336 (GRCm39)	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715 (GRCm39)	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,345,839 (GRCm39)	W2730R	probably damaging	Het
Pkn2	T	A	3: 142,559,351 (GRCm39)	K58I	probably damaging	Het
Plk5	T	C	10: 80,199,001 (GRCm39)		probably null	Het
Prkcq	T	C	2: 11,265,479 (GRCm39)	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,821 (GRCm39)	V244M	probably damaging	Het
Rpusd2	T	C	2: 118,868,659 (GRCm39)	F361L	probably damaging	Het
Rttn	T	A	18: 89,064,252 (GRCm39)	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,600,075 (GRCm39)	H107R	probably benign	Het
Serpinb3a	T	A	1: 106,974,015 (GRCm39)	M299L	probably benign	Het
Slfn8	G	A	11: 82,894,291 (GRCm39)	Q783*	probably null	Het
Smc3	T	C	19: 53,624,147 (GRCm39)	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103 (GRCm38)		probably benign	Het
Uvssa	T	A	5: 33,549,192 (GRCm39)	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,595,168 (GRCm39)	V574L	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	Het

Other mutations in Gatd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02880:Gatd1	APN	7	140,990,951 (GRCm39)	missense	possibly damaging	0.96
R1036:Gatd1	UTSW	7	140,989,045 (GRCm39)	missense	probably damaging	1.00
R1553:Gatd1	UTSW	7	140,989,806 (GRCm39)	missense	probably benign	0.06
R2966:Gatd1	UTSW	7	140,989,080 (GRCm39)	missense	probably damaging	1.00
R3902:Gatd1	UTSW	7	140,989,014 (GRCm39)	missense	probably damaging	1.00
R4719:Gatd1	UTSW	7	140,990,981 (GRCm39)	missense	probably benign	0.01
R4916:Gatd1	UTSW	7	140,989,010 (GRCm39)	nonsense	probably null
R5013:Gatd1	UTSW	7	140,988,861 (GRCm39)	utr 3 prime	probably benign
R5118:Gatd1	UTSW	7	140,986,719 (GRCm39)	unclassified	probably benign
R5538:Gatd1	UTSW	7	140,986,758 (GRCm39)	unclassified	probably benign
R7177:Gatd1	UTSW	7	140,990,947 (GRCm39)	missense	possibly damaging	0.94
R7975:Gatd1	UTSW	7	140,989,781 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16