Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01822:Mmgt2'

154574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmgt2

Ensembl Gene

ENSMUSG00000048497

Gene Name

membrane magnesium transporter 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01822

Quality Score

Status

Chromosome

Chromosomal Location

62539490-62557180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62555832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 60 (V60A)

Ref Sequence

ENSEMBL: ENSMUSP00000128697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062860] [ENSMUST00000127589] [ENSMUST00000129162] [ENSMUST00000155759]

AlphaFold

Q8R3L0

Predicted Effect

probably benign
Transcript: ENSMUST00000062860

Predicted Effect

probably benign
Transcript: ENSMUST00000127589

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129162
AA Change: V60A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128669
Gene: ENSMUSG00000048497
AA Change: V60A

Domain	Start	End	E-Value	Type
Pfam:MMgT	10	98	3.8e-17	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148707

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155759
AA Change: V60A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128697
Gene: ENSMUSG00000048497
AA Change: V60A

Domain	Start	End	E-Value	Type
Pfam:MMgT	9	101	8.1e-24	PFAM
low complexity region	106	117	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cald1	A	T	6: 34,730,507 (GRCm39)	T269S	probably damaging	Het
Cntnap5c	T	A	17: 58,362,700 (GRCm39)	I351N	probably damaging	Het
Dhcr7	T	A	7: 143,399,236 (GRCm39)	I296N	probably damaging	Het
Dnah17	A	G	11: 117,972,819 (GRCm39)	F2038S	probably damaging	Het
Dsel	A	G	1: 111,789,626 (GRCm39)	L303P	probably damaging	Het
Fabp12	G	A	3: 10,311,082 (GRCm39)	R127*	probably null	Het
Fgf12	A	T	16: 28,008,351 (GRCm39)	S150T	possibly damaging	Het
Fkbp15	A	G	4: 62,270,741 (GRCm39)	M32T	probably benign	Het
Lrrc66	G	A	5: 73,787,311 (GRCm39)	T13I	probably benign	Het
Neb	G	T	2: 52,148,758 (GRCm39)	S2596R	possibly damaging	Het
Nfkbib	T	C	7: 28,461,134 (GRCm39)	D171G	probably benign	Het
Oas1a	T	C	5: 121,037,277 (GRCm39)	E250G	probably benign	Het
Or2n1	C	A	17: 38,486,339 (GRCm39)	D121E	probably damaging	Het
Or4a27	A	T	2: 88,559,136 (GRCm39)	I269N	probably benign	Het
Rnf182	T	C	13: 43,821,508 (GRCm39)	C20R	probably damaging	Het
Scn3a	T	C	2: 65,325,608 (GRCm39)	K970E	probably damaging	Het
Slc30a2	T	A	4: 134,075,948 (GRCm39)	Y192N	probably damaging	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,100 (GRCm39)	C10S	probably null	Het
Vmn2r61	A	T	7: 41,950,130 (GRCm39)	H850L	probably benign	Het
Vmn2r87	T	C	10: 130,307,991 (GRCm39)	Y749C	probably damaging	Het
Wnt5b	A	T	6: 119,410,433 (GRCm39)	C336S	probably damaging	Het
Zfp398	G	A	6: 47,843,205 (GRCm39)	R287Q	probably damaging	Het

Other mutations in Mmgt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Mmgt2	APN	11	62,555,703 (GRCm39)	missense	probably damaging	1.00
R4133:Mmgt2	UTSW	11	62,555,877 (GRCm39)	missense	probably damaging	1.00
R5172:Mmgt2	UTSW	11	62,555,954 (GRCm39)	missense	possibly damaging	0.88
R5447:Mmgt2	UTSW	11	62,555,824 (GRCm39)	nonsense	probably null
Z1177:Mmgt2	UTSW	11	62,555,900 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04