Mutagenetix > Incidental Mutations

Incidental Mutation 'R0001:Gamt'

32251

Institutional Source

Beutler Lab

Gene Symbol

Gamt

Ensembl Gene

ENSMUSG00000020150

Gene Name

guanidinoacetate methyltransferase

Synonyms

Spintz1

MMRRC Submission

038297-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.531) question?

Stock #

R0001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80258151-80261012 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 80259061 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020359] [ENSMUST00000020361] [ENSMUST00000105363] [ENSMUST00000105364] [ENSMUST00000156935]

Predicted Effect

unknown
Transcript: ENSMUST00000020359
AA Change: A166V

SMART Domains

Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
AA Change: A166V

Domain	Start	End	E-Value	Type
PDB:1XCL\|A	2	252	1e-151	PDB
SCOP:d1khha_	44	252	3e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020361

SMART Domains

Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
Pfam:Oxidored_q6	98	208	1.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105363

SMART Domains

Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150

Domain	Start	End	E-Value	Type
PDB:1XCL\|A	2	236	1e-155	PDB
SCOP:d1khha_	44	236	2e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105364

SMART Domains

Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153

Domain	Start	End	E-Value	Type
low complexity region	36	46	N/A	INTRINSIC
low complexity region	49	60	N/A	INTRINSIC
Pfam:Oxidored_q6	98	208	1.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155336

Predicted Effect

probably benign
Transcript: ENSMUST00000156935

SMART Domains

Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565

Domain	Start	End	E-Value	Type
RRM	3	75	1.89e-24	SMART
RRM	105	171	6.71e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157063

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Gamt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02174:Gamt	APN	10	80258396	missense	possibly damaging	0.89
IGL03115:Gamt	APN	10	80258438	missense	probably damaging	1.00
mr_bigger	UTSW	10	80260724	nonsense	probably null
R1471:Gamt	UTSW	10	80260858	missense	probably benign	0.37
R4156:Gamt	UTSW	10	80260724	nonsense	probably null
R5049:Gamt	UTSW	10	80258954	missense	probably benign
R5890:Gamt	UTSW	10	80259907	missense	possibly damaging	0.94
R7910:Gamt	UTSW	10	80258409	missense	possibly damaging	0.95
R7991:Gamt	UTSW	10	80258409	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATTCTGGTGCAGGCAACAATTTCC -3'
(R):5'- ATGACACGTACCCGCTGTCTGAAG -3'

Sequencing Primer
(F):5'- CTTATGTGATGAAAGCTGCCTC -3'
(R):5'- TGGCACACTCACCAGTTCA -3'

Posted On

2013-05-09