Mutagenetix > Incidental Mutation

Incidental Mutation 'R7783:Amt'

599388

Institutional Source

Beutler Lab

Gene Symbol

Amt

Ensembl Gene

ENSMUSG00000032607

Gene Name

aminomethyltransferase

Synonyms

EG434437

MMRRC Submission

045839-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108174104-108179501 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108174414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 60 (Q60*)

Ref Sequence

ENSEMBL: ENSMUSP00000035230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035227] [ENSMUST00000035230]

AlphaFold

Q8CFA2

Predicted Effect

probably benign
Transcript: ENSMUST00000035227

Predicted Effect

probably null
Transcript: ENSMUST00000035230
AA Change: Q60*

SMART Domains

Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607
AA Change: Q60*

Domain	Start	End	E-Value	Type
Pfam:GCV_T	38	291	7.8e-86	PFAM
Pfam:GCV_T_C	300	392	1.6e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,875 (GRCm39)	Y447*	probably null	Het
Abl2	T	C	1: 156,386,641 (GRCm39)	V8A	probably benign	Het
Adam33	C	T	2: 130,900,257 (GRCm39)	R103K	unknown	Het
Adamts13	G	T	2: 26,880,597 (GRCm39)	A727S	not run	Het
Ajm1	A	T	2: 25,467,820 (GRCm39)	L697Q	probably damaging	Het
Alpk2	A	T	18: 65,439,325 (GRCm39)	C689*	probably null	Het
Ankrd12	A	G	17: 66,334,245 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,428,770 (GRCm39)	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,585,359 (GRCm39)	L390P	probably damaging	Het
Arvcf	T	G	16: 18,207,063 (GRCm39)	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978 (GRCm39)	S367P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
C7	T	A	15: 5,037,192 (GRCm39)	H562L	probably benign	Het
Ccdc77	T	C	6: 120,327,334 (GRCm39)	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,198,236 (GRCm39)	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,459 (GRCm39)		probably null	Het
Cilk1	G	T	9: 78,042,927 (GRCm39)	V51F	probably damaging	Het
Corin	A	T	5: 72,458,967 (GRCm39)	F1068L	probably benign	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Ercc3	T	A	18: 32,381,296 (GRCm39)	S371T	probably damaging	Het
Fam193a	A	C	5: 34,588,524 (GRCm39)	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,564,522 (GRCm39)	C205Y	probably benign	Het
Fh1	G	A	1: 175,439,744 (GRCm39)	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gabra6	T	C	11: 42,207,289 (GRCm39)	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Grm6	T	A	11: 50,753,909 (GRCm39)	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,336,996 (GRCm39)		probably benign	Het
Hcrtr2	T	A	9: 76,140,196 (GRCm39)	Y364F	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,336 (GRCm39)	I374V	probably benign	Het
Il31ra	A	T	13: 112,677,785 (GRCm39)	F250L	probably benign	Het
Iqgap1	A	G	7: 80,458,807 (GRCm39)	V37A	probably benign	Het
Izumo3	A	T	4: 92,033,260 (GRCm39)	I182K	probably damaging	Het
Kidins220	G	A	12: 25,038,555 (GRCm39)	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,236 (GRCm39)	R231L	probably damaging	Het
Mical2	A	T	7: 112,012,183 (GRCm39)	S678C	probably damaging	Het
Mme	T	G	3: 63,272,288 (GRCm39)	F629C	probably damaging	Het
Muc5b	T	A	7: 141,411,078 (GRCm39)	H1341Q	unknown	Het
Or13a28	A	G	7: 140,217,637 (GRCm39)	T8A	possibly damaging	Het
Or13p5	T	A	4: 118,592,099 (GRCm39)	D124E	probably damaging	Het
Or2y1e	A	G	11: 49,219,029 (GRCm39)	S264G	probably benign	Het
Or5e1	A	T	7: 108,354,776 (GRCm39)	T238S	probably damaging	Het
Or5p70	A	G	7: 107,995,296 (GRCm39)	H323R	probably benign	Het
Parm1	A	T	5: 91,741,724 (GRCm39)	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,622,874 (GRCm39)	C68Y	probably benign	Het
Pkn3	A	T	2: 29,969,634 (GRCm39)	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,748,495 (GRCm39)	Y238N	probably damaging	Het
Pld6	T	C	11: 59,678,097 (GRCm39)	D122G	probably damaging	Het
Prag1	G	T	8: 36,570,409 (GRCm39)	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,096,551 (GRCm39)	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,505,851 (GRCm39)	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,953,588 (GRCm39)	V766A	probably benign	Het
Spata18	A	G	5: 73,825,953 (GRCm39)	T87A		Het
St3gal3	T	C	4: 117,797,320 (GRCm39)	M308V	probably benign	Het
Stx19	T	C	16: 62,642,649 (GRCm39)	L155S	probably benign	Het
Tespa1	A	T	10: 130,192,752 (GRCm39)	T145S	probably damaging	Het
Timm21	A	C	18: 84,965,846 (GRCm39)	F221V	possibly damaging	Het
Tlr1	A	T	5: 65,082,264 (GRCm39)	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,335,606 (GRCm39)	L125I	unknown	Het
Try4	T	C	6: 41,279,229 (GRCm39)	L4P	possibly damaging	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Txndc16	A	T	14: 45,382,417 (GRCm39)	N609K	probably benign	Het
Upf1	T	C	8: 70,805,508 (GRCm39)	T46A	probably benign	Het
Zfp266	T	C	9: 20,411,626 (GRCm39)	N184D	probably benign	Het
Zfp407	A	G	18: 84,228,047 (GRCm39)	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,517,795 (GRCm39)	C259S	possibly damaging	Het

Other mutations in Amt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02657:Amt	APN	9	108,178,579 (GRCm39)	missense	probably damaging	1.00
IGL03277:Amt	APN	9	108,178,418 (GRCm39)	missense	probably benign
R1333:Amt	UTSW	9	108,178,296 (GRCm39)	missense	probably benign	0.04
R1856:Amt	UTSW	9	108,174,361 (GRCm39)	missense	probably damaging	1.00
R3843:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3844:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3903:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3904:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R4729:Amt	UTSW	9	108,177,851 (GRCm39)	missense	probably damaging	1.00
R4814:Amt	UTSW	9	108,176,979 (GRCm39)	missense	probably benign
R5149:Amt	UTSW	9	108,178,650 (GRCm39)	missense	possibly damaging	0.59
R6000:Amt	UTSW	9	108,178,684 (GRCm39)	missense	probably benign	0.20
R6044:Amt	UTSW	9	108,174,450 (GRCm39)	missense	probably damaging	1.00
R6911:Amt	UTSW	9	108,178,428 (GRCm39)	critical splice donor site	probably null
R6957:Amt	UTSW	9	108,177,032 (GRCm39)	missense	possibly damaging	0.51
R7618:Amt	UTSW	9	108,177,077 (GRCm39)	missense	probably damaging	1.00
R7658:Amt	UTSW	9	108,174,430 (GRCm39)	missense	probably damaging	0.98
R9276:Amt	UTSW	9	108,178,410 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCACTCAGTTCTGTACAGGTGG -3'
(R):5'- CTCCTGAGTTAGCCCTCTAGAG -3'

Sequencing Primer
(F):5'- CTCAGTTCTGTACAGGTGGGATAAAG -3'
(R):5'- GAGTTAGCCCTCTAGAGTCCCTAAC -3'

Posted On

2019-11-26