Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Glyat'

355177

Institutional Source

Beutler Lab

Gene Symbol

Glyat

Ensembl Gene

ENSMUSG00000063683

Gene Name

glycine-N-acyltransferase

Synonyms

A330009E03Rik

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12633308-12653911 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12651297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 152 (L152P)

Ref Sequence

ENSEMBL: ENSMUSP00000114002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044976] [ENSMUST00000119960]

AlphaFold

Q91XE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044976
AA Change: L186P

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: L186P

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	1.9e-90	PFAM
Pfam:Gly_acyl_tr_C	207	295	2.8e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119960
AA Change: L152P

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: L152P

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	172	1.2e-91	PFAM
Pfam:Gly_acyl_tr_C	173	261	3.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157069

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,520,635 (GRCm38)	N325D	possibly damaging	Het
1700056E22Rik	A	G	1: 184,033,172 (GRCm38)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,294,001 (GRCm38)	T123A	possibly damaging	Het
4932438A13Rik	C	T	3: 37,041,889 (GRCm38)	T1108I	probably benign	Het
Abca4	T	C	3: 122,105,370 (GRCm38)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,965,305 (GRCm38)	S4P	possibly damaging	Het
Adam25	G	T	8: 40,754,126 (GRCm38)	C143F	probably damaging	Het
Ahnak	C	A	19: 9,016,906 (GRCm38)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,756,250 (GRCm38)	T10A	probably benign	Het
Ascc1	A	G	10: 60,049,802 (GRCm38)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,688,945 (GRCm38)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,561,194 (GRCm38)	P483L	probably damaging	Het
Atp11a	C	G	8: 12,813,118 (GRCm38)	P99R	probably damaging	Het
B4galnt1	G	T	10: 127,167,525 (GRCm38)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,142,343 (GRCm38)	P476H	probably damaging	Het
BC049730	T	A	7: 24,713,509 (GRCm38)	L114Q	probably damaging	Het
C2cd3	A	G	7: 100,395,188 (GRCm38)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm38)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,117,557 (GRCm38)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,422,586 (GRCm38)	I107T	probably benign	Het
Cela2a	T	C	4: 141,821,411 (GRCm38)	N138S	probably benign	Het
Cfap61	A	C	2: 146,035,202 (GRCm38)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,463,559 (GRCm38)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,850,165 (GRCm38)	G683W	unknown	Het
Col4a2	G	A	8: 11,313,504 (GRCm38)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,481,058 (GRCm38)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,338 (GRCm38)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm38)	T690A	probably benign	Het
Cx3cl1	A	T	8: 94,780,207 (GRCm38)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,757,292 (GRCm38)	R36C	probably benign	Het
Ddx51	T	C	5: 110,655,308 (GRCm38)	V269A	probably damaging	Het
Dlst	G	T	12: 85,118,842 (GRCm38)		probably null	Het
Dmkn	G	C	7: 30,763,981 (GRCm38)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,655,741 (GRCm38)	I330T	probably damaging	Het
Dock3	G	A	9: 107,025,336 (GRCm38)	H292Y	probably damaging	Het
Ell	A	G	8: 70,578,934 (GRCm38)	D94G	possibly damaging	Het
Enam	T	A	5: 88,503,791 (GRCm38)	L1053*	probably null	Het
Fcgbp	A	G	7: 28,107,296 (GRCm38)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,562,863 (GRCm38)		probably benign	Het
Gas2l1	G	A	11: 5,060,867 (GRCm38)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,520,140 (GRCm38)	E86*	probably null	Het
Gm17330	T	C	12: 23,968,782 (GRCm38)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,281,853 (GRCm38)		noncoding transcript	Het
Gpatch1	A	T	7: 35,299,305 (GRCm38)		probably null	Het
Gpr4	T	C	7: 19,222,894 (GRCm38)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,491,114 (GRCm38)	E214K	probably benign	Het
Hdac7	G	T	15: 97,811,587 (GRCm38)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,872,050 (GRCm38)		probably benign	Het
Hk2	C	T	6: 82,739,650 (GRCm38)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,359,279 (GRCm38)	Y71C	probably damaging	Het
Il1f8	T	C	2: 24,154,618 (GRCm38)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,663,987 (GRCm38)	S152I	probably damaging	Het
Jag1	C	A	2: 137,096,309 (GRCm38)	W257L	probably damaging	Het
Jak2	T	A	19: 29,294,915 (GRCm38)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,203,957 (GRCm38)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,452,606 (GRCm38)	D247G	probably benign	Het
Kif15	A	G	9: 122,959,993 (GRCm38)		probably null	Het
Kndc1	A	G	7: 139,930,123 (GRCm38)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,082,207 (GRCm38)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,232,143 (GRCm38)		probably benign	Het
Mfsd4a	A	T	1: 132,053,571 (GRCm38)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,549 (GRCm38)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,964,285 (GRCm38)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,690,115 (GRCm38)	I86T	probably damaging	Het
Nadk	C	A	4: 155,585,227 (GRCm38)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm38)	T117A	probably damaging	Het
Nol11	A	G	11: 107,184,718 (GRCm38)		probably benign	Het
Nucb2	G	A	7: 116,540,027 (GRCm38)		probably null	Het
Nupl1	G	T	14: 60,251,215 (GRCm38)	P19T	unknown	Het
Odf2	T	A	2: 29,904,034 (GRCm38)	L301Q	probably damaging	Het
Oit1	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Olfr374	T	A	8: 72,110,200 (GRCm38)	F211L	probably damaging	Het
Olfr736	A	G	14: 50,392,800 (GRCm38)	I15V	probably benign	Het
Oog4	T	C	4: 143,438,875 (GRCm38)	Y234C	probably benign	Het
Papln	T	C	12: 83,777,208 (GRCm38)		probably null	Het
Paqr6	C	T	3: 88,365,929 (GRCm38)	A76V	probably benign	Het
Pclo	A	G	5: 14,676,480 (GRCm38)		probably benign	Het
Pdzd8	T	C	19: 59,345,311 (GRCm38)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,821,167 (GRCm38)	Y189*	probably null	Het
Pknox2	A	T	9: 36,923,638 (GRCm38)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,163,059 (GRCm38)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,958,620 (GRCm38)	L1735R	probably damaging	Het
Polm	T	A	11: 5,837,663 (GRCm38)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,437,439 (GRCm38)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,978,467 (GRCm38)	W414R	probably benign	Het
Rassf1	A	G	9: 107,557,867 (GRCm38)	D187G	probably benign	Het
Rhag	T	C	17: 40,836,438 (GRCm38)	I397T	probably benign	Het
Rnft2	A	G	5: 118,228,863 (GRCm38)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,314,125 (GRCm38)	F360S	probably damaging	Het
Ror2	C	T	13: 53,117,297 (GRCm38)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,356,258 (GRCm38)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,100,660 (GRCm38)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,140,462 (GRCm38)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,083,857 (GRCm38)		probably null	Het
Tmem100	C	T	11: 90,035,563 (GRCm38)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,852,963 (GRCm38)	T350A	probably benign	Het
Ubr4	C	T	4: 139,450,529 (GRCm38)	T3241M	probably damaging	Het
Unc13d	A	T	11: 116,073,388 (GRCm38)	M350K	possibly damaging	Het
Vit	T	C	17: 78,625,114 (GRCm38)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,471,968 (GRCm38)	*304L	probably null	Het
Zbtb12	T	A	17: 34,896,401 (GRCm38)	H387Q	possibly damaging	Het

Other mutations in Glyat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Glyat	APN	19	12,648,133 (GRCm38)	splice site	probably benign
IGL00766:Glyat	APN	19	12,651,262 (GRCm38)	missense	probably benign	0.19
IGL01288:Glyat	APN	19	12,650,355 (GRCm38)	missense	possibly damaging	0.56
IGL02296:Glyat	APN	19	12,651,261 (GRCm38)	missense	probably damaging	0.99
PIT4458001:Glyat	UTSW	19	12,648,009 (GRCm38)	missense	probably benign	0.34
R0416:Glyat	UTSW	19	12,651,453 (GRCm38)	missense	possibly damaging	0.87
R1463:Glyat	UTSW	19	12,648,103 (GRCm38)	missense	probably damaging	1.00
R1750:Glyat	UTSW	19	12,646,315 (GRCm38)	missense	probably benign	0.01
R2416:Glyat	UTSW	19	12,651,254 (GRCm38)	missense	possibly damaging	0.50
R2504:Glyat	UTSW	19	12,651,398 (GRCm38)	missense	possibly damaging	0.82
R2960:Glyat	UTSW	19	12,639,850 (GRCm38)	missense	probably damaging	1.00
R3958:Glyat	UTSW	19	12,639,833 (GRCm38)	missense	probably benign	0.05
R4126:Glyat	UTSW	19	12,651,479 (GRCm38)	missense	probably benign	0.03
R4561:Glyat	UTSW	19	12,651,280 (GRCm38)	missense	possibly damaging	0.88
R5062:Glyat	UTSW	19	12,650,263 (GRCm38)	missense	probably damaging	1.00
R5490:Glyat	UTSW	19	12,650,281 (GRCm38)	missense	probably benign	0.35
R7028:Glyat	UTSW	19	12,650,359 (GRCm38)	missense	probably benign	0.00
R7044:Glyat	UTSW	19	12,650,265 (GRCm38)	missense	probably benign	0.05
R7599:Glyat	UTSW	19	12,639,808 (GRCm38)	missense	probably damaging	0.99
R9595:Glyat	UTSW	19	12,646,364 (GRCm38)	missense	probably damaging	1.00
R9784:Glyat	UTSW	19	12,651,480 (GRCm38)	missense	probably benign	0.00
Z1088:Glyat	UTSW	19	12,648,009 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCATTTGTCACTTCCAGGC -3'
(R):5'- TAAACAGGATAACCACGCTTTGTC -3'

Sequencing Primer
(F):5'- CTCTGTCCCTCAAGATAACAGGGG -3'
(R):5'- AACCACGCTTTGTCATAATCTGG -3'

Posted On

2015-10-21