Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Mtx2'

681021

Institutional Source

Beutler Lab

Gene Symbol

Mtx2

Ensembl Gene

ENSMUSG00000027099

Gene Name

metaxin 2

Synonyms

1500012G02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74656156-74707092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74699696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 156 (I156F)

Ref Sequence

ENSEMBL: ENSMUSP00000028511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028511]

AlphaFold

O88441

Predicted Effect

probably benign
Transcript: ENSMUST00000028511
AA Change: I156F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028511
Gene: ENSMUSG00000027099
AA Change: I156F

Domain	Start	End	E-Value	Type
Pfam:GST_C_3	99	251	3.3e-21	PFAM
Pfam:GST_C_2	165	248	6.6e-8	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.] The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,732 (GRCm39)	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,796,568 (GRCm39)	I626L	probably benign	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,790,991 (GRCm39)	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658 (GRCm39)	F491L	probably damaging	Het
Bcap29	T	A	12: 31,684,353 (GRCm39)	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,773,583 (GRCm39)	D294G	probably benign	Het
Ccdc170	C	T	10: 4,484,044 (GRCm39)	A290V	probably benign	Het
Cfhr2	A	T	1: 139,741,292 (GRCm39)	L228I	probably benign	Het
Clip4	T	A	17: 72,170,768 (GRCm39)	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,426,918 (GRCm39)	R173W	possibly damaging	Het
Dis3l	T	C	9: 64,214,875 (GRCm39)	K898R	probably benign	Het
Efr3b	G	T	12: 4,032,091 (GRCm39)	H172Q	possibly damaging	Het
Eipr1	A	T	12: 28,917,053 (GRCm39)	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,392,002 (GRCm39)	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,392,003 (GRCm39)	V415L	probably benign	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,619,134 (GRCm39)	T80A	probably benign	Het
Gen1	A	G	12: 11,292,287 (GRCm39)	S501P	probably benign	Het
Gm10643	A	G	8: 84,790,799 (GRCm39)		probably benign	Het
Hecw1	A	T	13: 14,481,395 (GRCm39)	V445D	probably benign	Het
Hells	CT	C	19: 38,942,045 (GRCm39)		probably null	Het
Hnrnpr	T	G	4: 136,059,791 (GRCm39)	D197E	possibly damaging	Het
Hspb1	G	A	5: 135,916,928 (GRCm39)	V6M	probably damaging	Het
Iglon5	A	G	7: 43,126,315 (GRCm39)	V196A	probably benign	Het
Ints2	T	C	11: 86,103,720 (GRCm39)	T1142A	probably benign	Het
Katnip	T	G	7: 125,449,975 (GRCm39)	L1013R	probably damaging	Het
Kcnq2	T	A	2: 180,724,244 (GRCm39)	D587V	probably damaging	Het
Lmln	C	T	16: 32,901,330 (GRCm39)	P242L	probably damaging	Het
Mapt	G	A	11: 104,173,307 (GRCm39)		probably null	Het
Mrgpre	T	C	7: 143,335,002 (GRCm39)	Y167C		Het
Nipbl	A	T	15: 8,381,104 (GRCm39)	S563T	probably benign	Het
Nmbr	C	T	10: 14,646,197 (GRCm39)	S357L	probably benign	Het
Or10ak14	A	T	4: 118,611,594 (GRCm39)	I49N	possibly damaging	Het
Or4e1	A	C	14: 52,700,692 (GRCm39)	I258S	probably damaging	Het
Or4f14	T	A	2: 111,743,207 (GRCm39)	I23F	probably benign	Het
Or4f60	T	C	2: 111,902,802 (GRCm39)	N42S	probably damaging	Het
Or4k15b	A	C	14: 50,272,602 (GRCm39)	L86R	probably damaging	Het
Or4p4	C	T	2: 88,483,308 (GRCm39)	L271F	possibly damaging	Het
Pctp	A	G	11: 89,875,554 (GRCm39)	M203T	possibly damaging	Het
Pip4k2c	A	G	10: 127,036,084 (GRCm39)	V261A	probably benign	Het
Pm20d1	G	T	1: 131,739,785 (GRCm39)	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Pramel26	T	C	4: 143,536,861 (GRCm39)	N490S	probably benign	Het
Sdk1	A	G	5: 142,082,598 (GRCm39)	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027 (GRCm39)	L66M	probably benign	Het
Sycp2l	G	T	13: 41,277,522 (GRCm39)		probably null	Het
Tars1	G	T	15: 11,384,183 (GRCm39)	H695N	probably benign	Het
Tdo2	A	G	3: 81,876,851 (GRCm39)	V107A	probably benign	Het
Tmem131l	A	T	3: 83,805,793 (GRCm39)	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,869,042 (GRCm39)	S431R	probably benign	Het
Unc80	A	G	1: 66,512,468 (GRCm39)	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,490,583 (GRCm39)	V115I	possibly damaging	Het
Vezf1	A	G	11: 87,972,553 (GRCm39)	T305A	probably benign	Het
Vmn1r45	A	T	6: 89,910,876 (GRCm39)	N31K	probably benign	Het
Wdr59	T	C	8: 112,211,808 (GRCm39)	K380E	probably benign	Het
Xylt1	T	A	7: 117,233,971 (GRCm39)	Y499*	probably null	Het
Zfp777	T	C	6: 48,006,125 (GRCm39)	E467G	probably benign	Het
Zkscan4	C	A	13: 21,668,680 (GRCm39)	P406Q	probably benign	Het

Other mutations in Mtx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01867:Mtx2	APN	2	74,706,733 (GRCm39)	missense	probably damaging	1.00
IGL03277:Mtx2	APN	2	74,698,748 (GRCm39)	missense	probably damaging	1.00
R0593:Mtx2	UTSW	2	74,699,780 (GRCm39)	splice site	probably benign
R0638:Mtx2	UTSW	2	74,699,634 (GRCm39)	splice site	probably benign
R2240:Mtx2	UTSW	2	74,699,696 (GRCm39)	missense	probably benign	0.00
R2906:Mtx2	UTSW	2	74,697,253 (GRCm39)	missense	probably damaging	1.00
R3151:Mtx2	UTSW	2	74,677,634 (GRCm39)	splice site	probably null
R3732:Mtx2	UTSW	2	74,677,606 (GRCm39)	missense	probably damaging	1.00
R3732:Mtx2	UTSW	2	74,677,606 (GRCm39)	missense	probably damaging	1.00
R3733:Mtx2	UTSW	2	74,677,606 (GRCm39)	missense	probably damaging	1.00
R6918:Mtx2	UTSW	2	74,706,697 (GRCm39)	missense	probably damaging	1.00
R7154:Mtx2	UTSW	2	74,706,762 (GRCm39)	missense	probably damaging	1.00
R7854:Mtx2	UTSW	2	74,699,231 (GRCm39)	missense	probably damaging	1.00
R8139:Mtx2	UTSW	2	74,706,714 (GRCm39)	missense	probably benign	0.04
R8234:Mtx2	UTSW	2	74,699,706 (GRCm39)	missense	probably damaging	1.00
R9326:Mtx2	UTSW	2	74,656,287 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCACATACATTTTAGGGAAGC -3'
(R):5'- CTCTACAGGCAAATAAACATGTGC -3'

Sequencing Primer
(F):5'- CACATACATTTTAGGGAAGCTATGTG -3'
(R):5'- CAGAGTCTTGTTACCCCATC -3'

Posted On

2021-08-31