Mutagenetix > Incidental Mutation

Incidental Mutation 'R6676:Mia2'

527292

Institutional Source

Beutler Lab

Gene Symbol

Mia2

Ensembl Gene

ENSMUSG00000021000

Gene Name

MIA SH3 domain ER export factor 2

Synonyms

MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5

MMRRC Submission

044795-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R6676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59142368-59237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59155156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 290 (Y290H)

Ref Sequence

ENSEMBL: ENSMUSP00000021384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021384] [ENSMUST00000219140]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021384
AA Change: Y290H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: Y290H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SH3	42	100	4.03e-2	SMART
low complexity region	288	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219140
AA Change: Y291H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221093

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased serum levels of cholesterol, HDL cholesterol, triglyceride, and VLDL triglyceride. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	A	T	8: 27,601,268 (GRCm39)	I303F	possibly damaging	Het
Cldn9	A	G	17: 23,902,023 (GRCm39)	S201P	probably benign	Het
Clstn2	G	T	9: 97,343,584 (GRCm39)	P621Q	probably damaging	Het
Ctdspl2	A	G	2: 121,837,445 (GRCm39)	N403S	probably damaging	Het
Cyp2j5	T	C	4: 96,524,045 (GRCm39)	Y329C	possibly damaging	Het
Elapor1	A	G	3: 108,377,231 (GRCm39)	L461P	probably damaging	Het
Elovl1	A	G	4: 118,287,700 (GRCm39)		probably benign	Het
Fam83a	A	G	15: 57,856,439 (GRCm39)	D206G	possibly damaging	Het
Fancd2	C	T	6: 113,514,626 (GRCm39)	Q144*	probably null	Het
Fhl2	T	C	1: 43,170,970 (GRCm39)	M115V	possibly damaging	Het
Fry	T	A	5: 150,304,387 (GRCm39)	D592E	probably benign	Het
Lrp1	G	A	10: 127,396,005 (GRCm39)	H2422Y	probably damaging	Het
Mamdc2	T	A	19: 23,280,997 (GRCm39)	I684F	probably damaging	Het
Mup12	C	T	4: 60,696,642 (GRCm39)		probably null	Het
Olr1	T	A	6: 129,477,040 (GRCm39)		probably null	Het
Or51a24	T	C	7: 103,733,661 (GRCm39)	T209A	probably benign	Het
Pcdhb15	T	C	18: 37,607,860 (GRCm39)	V364A	possibly damaging	Het
Pfkp	A	G	13: 6,636,575 (GRCm39)	S654P	possibly damaging	Het
Rab3gap2	T	G	1: 185,015,607 (GRCm39)	V1275G	probably damaging	Het
Rbbp4	A	G	4: 129,222,414 (GRCm39)	F93L	probably benign	Het
Ripk1	T	C	13: 34,194,587 (GRCm39)	V75A	probably damaging	Het
Scg2	T	A	1: 79,413,499 (GRCm39)	Q368L	possibly damaging	Het
Tmprss9	A	G	10: 80,734,145 (GRCm39)		probably benign	Het

Other mutations in Mia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Mia2	APN	12	59,207,059 (GRCm39)	splice site	probably benign
IGL00791:Mia2	APN	12	59,155,085 (GRCm39)	missense	possibly damaging	0.82
IGL00821:Mia2	APN	12	59,217,106 (GRCm39)	critical splice donor site	probably null
IGL00901:Mia2	APN	12	59,154,815 (GRCm39)	missense	probably damaging	1.00
IGL00985:Mia2	APN	12	59,235,146 (GRCm39)	missense	probably damaging	1.00
IGL01304:Mia2	APN	12	59,151,324 (GRCm39)	missense	probably damaging	1.00
IGL01909:Mia2	APN	12	59,154,731 (GRCm39)	missense	possibly damaging	0.94
IGL02646:Mia2	APN	12	59,155,622 (GRCm39)	missense	probably damaging	1.00
IGL02800:Mia2	APN	12	59,235,277 (GRCm39)	nonsense	probably null
IGL03332:Mia2	APN	12	59,155,184 (GRCm39)	missense	probably damaging	0.97
PIT4812001:Mia2	UTSW	12	59,148,365 (GRCm39)	missense	possibly damaging	0.92
R0242:Mia2	UTSW	12	59,155,642 (GRCm39)	missense	probably damaging	1.00
R0242:Mia2	UTSW	12	59,155,642 (GRCm39)	missense	probably damaging	1.00
R0449:Mia2	UTSW	12	59,219,380 (GRCm39)	critical splice donor site	probably null
R0620:Mia2	UTSW	12	59,201,205 (GRCm39)	missense	possibly damaging	0.96
R0622:Mia2	UTSW	12	59,178,364 (GRCm39)	missense	probably damaging	0.98
R0632:Mia2	UTSW	12	59,182,929 (GRCm39)	missense	probably damaging	0.99
R1643:Mia2	UTSW	12	59,226,631 (GRCm39)	splice site	probably null
R1654:Mia2	UTSW	12	59,155,619 (GRCm39)	missense	possibly damaging	0.92
R1706:Mia2	UTSW	12	59,191,552 (GRCm39)	nonsense	probably null
R1776:Mia2	UTSW	12	59,196,361 (GRCm39)	splice site	probably benign
R1848:Mia2	UTSW	12	59,217,037 (GRCm39)	splice site	probably benign
R2240:Mia2	UTSW	12	59,154,668 (GRCm39)	missense	probably benign	0.01
R2698:Mia2	UTSW	12	59,217,780 (GRCm39)	critical splice donor site	probably null
R2860:Mia2	UTSW	12	59,201,196 (GRCm39)	missense	probably damaging	0.98
R2861:Mia2	UTSW	12	59,201,196 (GRCm39)	missense	probably damaging	0.98
R2862:Mia2	UTSW	12	59,201,196 (GRCm39)	missense	probably damaging	0.98
R3429:Mia2	UTSW	12	59,236,427 (GRCm39)	missense	possibly damaging	0.89
R3861:Mia2	UTSW	12	59,155,807 (GRCm39)	missense	probably benign	0.00
R3965:Mia2	UTSW	12	59,223,158 (GRCm39)	missense	probably damaging	1.00
R5156:Mia2	UTSW	12	59,219,323 (GRCm39)	missense	possibly damaging	0.94
R5249:Mia2	UTSW	12	59,154,911 (GRCm39)	missense	probably damaging	0.99
R5330:Mia2	UTSW	12	59,142,598 (GRCm39)	missense	probably benign	0.01
R5331:Mia2	UTSW	12	59,142,598 (GRCm39)	missense	probably benign	0.01
R5815:Mia2	UTSW	12	59,220,892 (GRCm39)	missense	possibly damaging	0.95
R5972:Mia2	UTSW	12	59,193,723 (GRCm39)	missense	probably damaging	1.00
R6651:Mia2	UTSW	12	59,201,148 (GRCm39)	missense	possibly damaging	0.78
R6695:Mia2	UTSW	12	59,219,366 (GRCm39)	missense	probably damaging	0.99
R6800:Mia2	UTSW	12	59,235,332 (GRCm39)	critical splice donor site	probably null
R6845:Mia2	UTSW	12	59,231,064 (GRCm39)	nonsense	probably null
R6919:Mia2	UTSW	12	59,176,681 (GRCm39)	missense	possibly damaging	0.74
R7058:Mia2	UTSW	12	59,231,021 (GRCm39)	missense	possibly damaging	0.77
R7209:Mia2	UTSW	12	59,201,176 (GRCm39)	missense	possibly damaging	0.55
R7274:Mia2	UTSW	12	59,154,905 (GRCm39)	missense	probably damaging	0.99
R7291:Mia2	UTSW	12	59,205,155 (GRCm39)	critical splice donor site	probably null
R7874:Mia2	UTSW	12	59,155,374 (GRCm39)	missense	probably damaging	0.99
R7894:Mia2	UTSW	12	59,236,433 (GRCm39)	missense	probably damaging	1.00
R7961:Mia2	UTSW	12	59,206,425 (GRCm39)	critical splice donor site	probably null
R7980:Mia2	UTSW	12	59,155,651 (GRCm39)	missense	probably damaging	0.98
R8110:Mia2	UTSW	12	59,155,873 (GRCm39)	splice site	probably null
R8557:Mia2	UTSW	12	59,148,274 (GRCm39)	missense	probably damaging	0.97
R9031:Mia2	UTSW	12	59,155,586 (GRCm39)	missense	probably damaging	1.00
R9077:Mia2	UTSW	12	59,226,760 (GRCm39)	missense	possibly damaging	0.94
R9113:Mia2	UTSW	12	59,217,053 (GRCm39)	utr 3 prime	probably benign
R9214:Mia2	UTSW	12	59,223,150 (GRCm39)	missense	possibly damaging	0.92
R9433:Mia2	UTSW	12	59,148,371 (GRCm39)	missense	probably damaging	1.00
X0063:Mia2	UTSW	12	59,182,925 (GRCm39)	missense	probably damaging	0.99
Z1176:Mia2	UTSW	12	59,155,587 (GRCm39)	missense	probably damaging	1.00
Z1176:Mia2	UTSW	12	59,154,910 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CTTGCCATCCCTCAGTAAGC -3'
(R):5'- GACTTCTTCATCTGGTGGAACAG -3'

Sequencing Primer
(F):5'- TCCCTCAGTAAGCCAGAAAGG -3'
(R):5'- CAGAGCTGGGAATATCTTGTAATG -3'

Posted On

2018-07-23