Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02174:Gamt'

283037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gamt

Ensembl Gene

ENSMUSG00000020150

Gene Name

guanidinoacetate methyltransferase

Synonyms

Spintz1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

80093985-80096846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80094230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 227 (V227E)

Ref Sequence

ENSEMBL: ENSMUSP00000020359 (fasta)

Gene Model

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

AlphaFold

O35969

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020359
AA Change: V227E

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
AA Change: V227E

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

possibly damaging
Transcript: ENSMUST00000105363
AA Change: V211E

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
AA Change: V211E

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: ENSMUST00000152939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157063

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

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,738,154 (GRCm39)	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,575,783 (GRCm39)	T4861I	probably benign	Het
Ampd2	T	C	3: 107,987,601 (GRCm39)	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,730 (GRCm39)	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555 (GRCm39)	E123D	possibly damaging	Het
Cabs1	A	G	5: 88,128,339 (GRCm39)	E330G	probably benign	Het
Ccdc33	T	C	9: 57,940,938 (GRCm39)	K435E	probably benign	Het
Clip2	T	G	5: 134,523,118 (GRCm39)	K943T	probably damaging	Het
Cmya5	T	C	13: 93,185,415 (GRCm39)	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,341,384 (GRCm39)	R244C	probably benign	Het
Dcaf13	C	A	15: 39,001,544 (GRCm39)	A284E	probably damaging	Het
Ddx31	T	A	2: 28,749,041 (GRCm39)	L279Q	probably damaging	Het
Dgki	A	G	6: 37,009,856 (GRCm39)	L497P	probably damaging	Het
Dnah12	A	T	14: 26,428,072 (GRCm39)	I233F	probably benign	Het
Dpp6	G	T	5: 27,926,085 (GRCm39)	G720*	probably null	Het
Emc1	T	C	4: 139,098,979 (GRCm39)	Y821H	possibly damaging	Het
Esr1	C	T	10: 4,948,003 (GRCm39)	R519W	probably damaging	Het
Habp2	A	G	19: 56,300,169 (GRCm39)	Q206R	probably damaging	Het
Ihh	A	G	1: 74,990,105 (GRCm39)	I90T	probably damaging	Het
Kif20b	T	C	19: 34,911,858 (GRCm39)		probably benign	Het
Lcp2	T	C	11: 34,000,966 (GRCm39)		probably benign	Het
Lyrm2	A	G	4: 32,800,649 (GRCm39)	I29V	probably benign	Het
Macf1	T	C	4: 123,385,587 (GRCm39)	D1168G	probably damaging	Het
Mocos	T	C	18: 24,828,953 (GRCm39)	S753P	probably benign	Het
Myo3a	A	G	2: 22,337,204 (GRCm39)	E367G	probably benign	Het
Ndor1	G	A	2: 25,139,206 (GRCm39)	A255V	possibly damaging	Het
Nfat5	C	T	8: 108,065,683 (GRCm39)	P148S	probably damaging	Het
Or4c121	A	T	2: 89,023,712 (GRCm39)	F222Y	probably benign	Het
Or5al7	T	A	2: 85,992,442 (GRCm39)	M284L	possibly damaging	Het
Or6z7	T	C	7: 6,483,438 (GRCm39)	Y239C	probably benign	Het
Or8b41	A	T	9: 38,055,081 (GRCm39)	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,589,188 (GRCm39)	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,429,551 (GRCm39)	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,145,707 (GRCm39)	T172I	probably benign	Het
Pld5	A	G	1: 176,102,310 (GRCm39)	V44A	possibly damaging	Het
Prss44	T	C	9: 110,646,199 (GRCm39)	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,301,237 (GRCm39)	N88K	probably benign	Het
Rspry1	A	G	8: 95,359,768 (GRCm39)	I102M	possibly damaging	Het
Stab2	A	G	10: 86,695,606 (GRCm39)		probably null	Het
Tbx3	C	A	5: 119,813,649 (GRCm39)	Y228*	probably null	Het
Tcf15	G	T	2: 151,986,065 (GRCm39)		probably benign	Het
Tmem41b	A	G	7: 109,578,003 (GRCm39)	S94P	possibly damaging	Het
Trmt10b	A	T	4: 45,308,508 (GRCm39)	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,763,063 (GRCm39)	G317*	probably null	Het
Urod	T	A	4: 116,847,479 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,532,358 (GRCm39)	R52L	probably damaging	Het
Wnk2	C	A	13: 49,210,643 (GRCm39)	Q232H	probably damaging	Het
Zbtb10	C	A	3: 9,316,872 (GRCm39)	P228Q	probably damaging	Het
Zfp764l1	G	A	7: 126,991,525 (GRCm39)	T154I	possibly damaging	Het

Other mutations in Gamt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03115:Gamt	APN	10	80,094,272 (GRCm39)	missense	probably damaging	1.00
mr_bigger	UTSW	10	80,096,558 (GRCm39)	nonsense	probably null
R0001:Gamt	UTSW	10	80,094,895 (GRCm39)	unclassified	probably benign
R1471:Gamt	UTSW	10	80,096,692 (GRCm39)	missense	probably benign	0.37
R4156:Gamt	UTSW	10	80,096,558 (GRCm39)	nonsense	probably null
R5049:Gamt	UTSW	10	80,094,788 (GRCm39)	missense	probably benign
R5890:Gamt	UTSW	10	80,095,741 (GRCm39)	missense	possibly damaging	0.94
R7910:Gamt	UTSW	10	80,094,243 (GRCm39)	missense	possibly damaging	0.95
R9647:Gamt	UTSW	10	80,095,672 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16