Mutagenetix > Incidental Mutation

Incidental Mutation 'R6419:Gcat'

518033

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

044561-MU

Accession Numbers

Essential gene?

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

Stock #

R6419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78915074-78926731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78920264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 198 (I198S)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006544
AA Change: I256S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378
AA Change: I256S

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 damaging
Transcript: ENSMUST00000171999
AA Change: I256S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378
AA Change: I256S

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 damaging
Transcript: ENSMUST00000229276
AA Change: I198S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

96% (67/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	C	4: 42,812,473 (GRCm39)		probably benign	Het
Abcc2	T	A	19: 43,825,947 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,215,759 (GRCm39)	T260M	possibly damaging	Het
Adamts20	C	T	15: 94,231,556 (GRCm39)	V878I	possibly damaging	Het
Adgrl4	A	G	3: 151,144,953 (GRCm39)	E34G	probably damaging	Het
Asah1	A	T	8: 41,796,803 (GRCm39)	I293N	probably damaging	Het
Atosa	G	A	9: 74,916,619 (GRCm39)	S413N	probably benign	Het
B3galt2	A	T	1: 143,522,839 (GRCm39)	E325V	possibly damaging	Het
Baz1b	T	A	5: 135,271,348 (GRCm39)	H1310Q	probably benign	Het
Ccdc125	T	A	13: 100,826,834 (GRCm39)	N204K	probably damaging	Het
Cd36	C	T	5: 18,002,150 (GRCm39)	D284N	probably benign	Het
Cdh12	T	C	15: 21,520,483 (GRCm39)	L316S	probably damaging	Het
Cenpv	T	C	11: 62,416,008 (GRCm39)	K247R	probably benign	Het
Cldn18	T	C	9: 99,574,801 (GRCm39)	H257R	possibly damaging	Het
Cnot8	T	A	11: 58,004,891 (GRCm39)	Y197N	probably damaging	Het
Cog3	A	T	14: 75,962,178 (GRCm39)	C554*	probably null	Het
Col4a4	A	G	1: 82,444,207 (GRCm39)		probably null	Het
Cops5	G	A	1: 10,103,532 (GRCm39)	T158I	probably damaging	Het
Dhh	A	G	15: 98,792,282 (GRCm39)	F242S	probably damaging	Het
Dot1l	T	C	10: 80,627,315 (GRCm39)	V1512A	possibly damaging	Het
Dstn	T	G	2: 143,781,907 (GRCm39)	I116S	possibly damaging	Het
Egfem1	G	A	3: 29,711,398 (GRCm39)	D326N	probably damaging	Het
Enpp3	A	T	10: 24,684,089 (GRCm39)	Y52N	probably damaging	Het
Gabra2	A	G	5: 71,119,426 (GRCm39)	S359P	probably benign	Het
Gbp7	G	A	3: 142,252,214 (GRCm39)	G599E	probably benign	Het
Gm8439	A	G	4: 120,466,755 (GRCm39)	K82R	unknown	Het
Grin2b	A	G	6: 135,717,965 (GRCm39)	F709S	probably damaging	Het
Grm3	T	C	5: 9,620,201 (GRCm39)	N348D	probably damaging	Het
Hdgfl1	G	A	13: 26,954,075 (GRCm39)		probably benign	Het
Hmgxb3	G	T	18: 61,285,296 (GRCm39)	D564E	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Impg1	A	G	9: 80,287,300 (GRCm39)	V305A	probably benign	Het
Ints7	T	A	1: 191,334,414 (GRCm39)	S313T	possibly damaging	Het
Knl1	T	A	2: 118,899,484 (GRCm39)	I395K	probably benign	Het
Lactb2	A	T	1: 13,708,459 (GRCm39)	Y196*	probably null	Het
Lad1	T	C	1: 135,759,630 (GRCm39)	S509P	possibly damaging	Het
Ltf	T	C	9: 110,860,090 (GRCm39)	F504L	possibly damaging	Het
Med4	A	T	14: 73,751,363 (GRCm39)	D104V	probably damaging	Het
Mrpl58	A	T	11: 115,301,073 (GRCm39)	N128Y	probably damaging	Het
Ndufs2	T	C	1: 171,068,668 (GRCm39)	T54A	probably benign	Het
Notch2	G	T	3: 98,007,705 (GRCm39)		probably null	Het
Ntng1	A	T	3: 109,690,169 (GRCm39)	N424K	possibly damaging	Het
Ntrk2	G	A	13: 59,009,113 (GRCm39)	W301*	probably null	Het
Or5b116	T	A	19: 13,423,131 (GRCm39)	S252T	probably benign	Het
Otud6b	A	G	4: 14,822,766 (GRCm39)	S113P	possibly damaging	Het
Pcdhb20	A	G	18: 37,638,608 (GRCm39)	N378S	probably damaging	Het
Polr3b	T	C	10: 84,473,975 (GRCm39)	S185P	possibly damaging	Het
Ptprn	G	A	1: 75,240,681 (GRCm39)	R31C	probably benign	Het
Rgsl1	C	T	1: 153,698,117 (GRCm39)	V478M	probably damaging	Het
Sema6b	A	T	17: 56,439,784 (GRCm39)	L19*	probably null	Het
Slfn8	A	G	11: 82,894,881 (GRCm39)		probably null	Het
Spen	A	T	4: 141,203,621 (GRCm39)	S1669T	unknown	Het
Syne2	T	C	12: 76,143,740 (GRCm39)	F1522L	probably damaging	Het
Tarbp1	C	T	8: 127,185,783 (GRCm39)	A470T	possibly damaging	Het
Tent4a	A	C	13: 69,658,785 (GRCm39)	M350R	possibly damaging	Het
Tiam1	C	A	16: 89,694,912 (GRCm39)	E182*	probably null	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trip12	C	T	1: 84,771,591 (GRCm39)	A186T	probably damaging	Het
Ufc1	C	T	1: 171,116,529 (GRCm39)	A147T	probably damaging	Het
Vmn1r199	A	G	13: 22,567,777 (GRCm39)	K314R	possibly damaging	Het
Vmn2r13	A	T	5: 109,323,085 (GRCm39)	I68K	possibly damaging	Het
Vmn2r77	A	T	7: 86,460,767 (GRCm39)	I698F	probably damaging	Het
Vmn2r86	T	C	10: 130,282,795 (GRCm39)	K607R	probably damaging	Het
Vwa3b	T	C	1: 37,196,457 (GRCm39)	V28A	probably benign	Het
Wdr19	A	G	5: 65,373,236 (GRCm39)	N166S	possibly damaging	Het
Wfdc17	G	A	11: 83,595,634 (GRCm39)	G33R	probably damaging	Het
Zfp330	T	G	8: 83,491,545 (GRCm39)	K209N	probably benign	Het
Zfp493	A	G	13: 67,934,526 (GRCm39)	T160A	probably benign	Het
Zfp974	A	T	7: 27,610,940 (GRCm39)	C262S	possibly 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
R3890:Gcat	UTSW	15	78,921,376 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGAATGCCATGCCACTGG -3'
(R):5'- TTAGAAGCACAGCCGACTACAG -3'

Sequencing Primer
(F):5'- GCTTTCTTGGGCCCACAG -3'
(R):5'- GGTGGTATATCCCCCTGAAAACAG -3'

Posted On

2018-05-24