Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Gcat'

310364

Institutional Source

Beutler Lab

Gene Symbol

Gcat

Ensembl Gene

ENSMUSG00000116378

Gene Name

glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase)

Synonyms

Kbl, aminoacetone synthase

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78915074-78926731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78921376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 378 (V378D)

Ref Sequence

ENSEMBL: ENSMUSP00000006544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000058004] [ENSMUST00000171999]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006544
AA Change: V378D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378
AA Change: V378D

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	63	405	8.8e-72	PFAM
Pfam:Aminotran_5	77	236	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058004

SMART Domains

Protein: ENSMUSP00000060517
Gene: ENSMUSG00000114755

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
Pfam:7tm_4	24	307	2.9e-9	PFAM
Pfam:7tm_1	34	291	6.1e-47	PFAM
low complexity region	310	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171999

SMART Domains

Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	63	379	2e-64	PFAM
Pfam:Aminotran_5	77	236	4.7e-8	PFAM
Pfam:Cys_Met_Meta_PP	93	240	2.4e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229276

Meta Mutation Damage Score

0.9733

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het

Other mutations in Gcat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Gcat	APN	15	78,918,265 (GRCm39)	splice site	probably benign
IGL03238:Gcat	APN	15	78,920,210 (GRCm39)	splice site	probably benign
G1Funyon:Gcat	UTSW	15	78,920,089 (GRCm39)	missense	possibly damaging	0.58
R1440:Gcat	UTSW	15	78,918,194 (GRCm39)	missense	probably null	1.00
R1696:Gcat	UTSW	15	78,919,995 (GRCm39)	missense	probably damaging	0.98
R2336:Gcat	UTSW	15	78,915,180 (GRCm39)	missense	probably benign	0.01
R3418:Gcat	UTSW	15	78,926,297 (GRCm39)	missense	possibly damaging	0.89
R3905:Gcat	UTSW	15	78,927,531 (GRCm39)	missense	possibly damaging	0.74
R4653:Gcat	UTSW	15	78,919,487 (GRCm39)	missense	probably damaging	1.00
R4814:Gcat	UTSW	15	78,915,322 (GRCm39)	critical splice donor site	probably null
R5121:Gcat	UTSW	15	78,919,482 (GRCm39)	missense	probably damaging	1.00
R5454:Gcat	UTSW	15	78,920,610 (GRCm39)	missense	probably benign
R5550:Gcat	UTSW	15	78,926,411 (GRCm39)	missense	probably benign	0.30
R5664:Gcat	UTSW	15	78,927,273 (GRCm39)	missense	probably damaging	1.00
R6022:Gcat	UTSW	15	78,926,478 (GRCm39)	missense	probably damaging	0.98
R6419:Gcat	UTSW	15	78,920,264 (GRCm39)	missense	probably damaging	1.00
R6868:Gcat	UTSW	15	78,919,566 (GRCm39)	missense	probably damaging	0.99
R7243:Gcat	UTSW	15	78,921,063 (GRCm39)	missense	possibly damaging	0.79
R7976:Gcat	UTSW	15	78,919,188 (GRCm39)	missense	probably damaging	0.98
R8301:Gcat	UTSW	15	78,920,089 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GACTTAACAAACCACAGGCTATGAG -3'
(R):5'- AGTCTGGGTTGAGTCACAGC -3'

Sequencing Primer
(F):5'- CACAGGCTATGAGGTGGTCTC -3'
(R):5'- GGTTGAGTCACAGCCTCTGATC -3'

Posted On

2015-04-17