Mutagenetix > Incidental Mutation

Incidental Mutation 'R1036:Gatd1'

93794

Institutional Source

Beutler Lab

Gene Symbol

Gatd1

Ensembl Gene

ENSMUSG00000051007

Gene Name

glutamine amidotransferase like class 1 domain containing 1

Synonyms

Pddc1, D230016J19Rik

MMRRC Submission

039135-MU

Accession Numbers

Essential gene?

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

Stock #

R1036 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

140988097-140994038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140989045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 205 (T205S)

Ref Sequence

ENSEMBL: ENSMUSP00000101630 (fasta)

Gene Model

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

AlphaFold

Q8BFQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000106008
AA Change: T205S

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

SMART Domains

Protein: ENSMUSP00000101630
Gene: ENSMUSG00000051007
AA Change: T205S

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

Meta Mutation Damage Score

0.2342

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.2%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abca12	A	G	1: 71,302,569 (GRCm39)		probably null	Het
Abcg1	C	A	17: 31,330,243 (GRCm39)	Q515K	probably damaging	Het
Acaa1b	A	T	9: 118,979,884 (GRCm39)		probably benign	Het
Adamts3	T	C	5: 89,843,952 (GRCm39)		probably benign	Het
Aoah	A	C	13: 21,024,339 (GRCm39)		probably benign	Het
Arhgap10	G	A	8: 78,037,398 (GRCm39)	P610L	probably damaging	Het
Casq2	G	T	3: 102,049,531 (GRCm39)	A295S	probably damaging	Het
Col6a4	A	G	9: 105,945,397 (GRCm39)	Y906H	probably damaging	Het
Dcaf13	T	A	15: 39,007,113 (GRCm39)	I349N	probably damaging	Het
Ecd	A	G	14: 20,383,386 (GRCm39)		probably benign	Het
Enpep	C	A	3: 129,077,758 (GRCm39)	V620L	probably damaging	Het
Fbln7	A	G	2: 128,735,815 (GRCm39)	S268G	possibly damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gbe1	T	A	16: 70,325,775 (GRCm39)	V604E	probably damaging	Het
Ghsr	T	A	3: 27,428,869 (GRCm39)	I298N	probably damaging	Het
Glis1	T	C	4: 107,489,461 (GRCm39)	Y683H	probably benign	Het
Gpr162	T	A	6: 124,837,823 (GRCm39)	I276F	probably damaging	Het
Hps6	A	G	19: 45,992,680 (GRCm39)	T206A	probably benign	Het
Kcnk10	T	C	12: 98,462,445 (GRCm39)		probably benign	Het
Krt90	A	G	15: 101,471,151 (GRCm39)	V37A	probably benign	Het
Lmbr1	T	C	5: 29,463,745 (GRCm39)	K160E	probably damaging	Het
Nif3l1	A	G	1: 58,487,032 (GRCm39)	T73A	probably damaging	Het
Nup107	A	T	10: 117,593,199 (GRCm39)	D826E	probably damaging	Het
Nup210l	C	T	3: 90,100,247 (GRCm39)		probably benign	Het
Omd	A	G	13: 49,743,447 (GRCm39)	R166G	probably damaging	Het
Plekha4	T	C	7: 45,199,400 (GRCm39)		probably benign	Het
Ptgdr	A	G	14: 45,096,572 (GRCm39)	S47P	probably damaging	Het
Sec24c	A	G	14: 20,742,965 (GRCm39)	I940V	probably benign	Het
Shkbp1	A	G	7: 27,044,721 (GRCm39)	S457P	possibly damaging	Het
Skint1	T	C	4: 111,876,493 (GRCm39)	V138A	possibly damaging	Het
Slc38a9	A	G	13: 112,838,193 (GRCm39)		probably benign	Het
Spata31e5	A	G	1: 28,816,883 (GRCm39)	L383P	probably benign	Het
Srsf7	A	T	17: 80,513,266 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,793,235 (GRCm39)	K300R	probably damaging	Het
Stox1	A	T	10: 62,503,674 (GRCm39)	I127K	probably damaging	Het
Sympk	G	A	7: 18,782,378 (GRCm39)	R832Q	probably damaging	Het
Usp3	A	G	9: 66,437,513 (GRCm39)		probably benign	Het

Other mutations in Gatd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Gatd1	APN	7	140,988,873 (GRCm39)	makesense	probably null
IGL02880:Gatd1	APN	7	140,990,951 (GRCm39)	missense	possibly damaging	0.96
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

Predicted Primers

PCR Primer
(F):5'- TCCCATCGAGTGTCAGTACAGGAG -3'
(R):5'- ACTTGCTGTGTGTTCACAGATCCC -3'

Sequencing Primer
(F):5'- AGGACTGCATCCAAGCTTACTTC -3'
(R):5'- TTCACAGATCCCTAATGGGTG -3'

Posted On

2014-01-05