Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00791:Mia2'

12002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mia2

Ensembl Gene

ENSMUSG00000021000

Gene Name

MIA SH3 domain ER export factor 2

Synonyms

MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL00791

Quality Score

Status

Chromosome

Chromosomal Location

59142368-59237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59155085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

Ref Sequence

ENSEMBL: ENSMUSP00000151482 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021384
AA Change: E266G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: E266G

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

possibly damaging
Transcript: ENSMUST00000219140
AA Change: E267G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221093

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	A	T	12: 21,289,649 (GRCm39)	M519L	possibly damaging	Het
Bbs7	T	C	3: 36,629,436 (GRCm39)	*674W	probably null	Het
Ceacam13	A	G	7: 17,747,278 (GRCm39)	T244A	possibly damaging	Het
Cln8	T	A	8: 14,944,689 (GRCm39)	M1K	probably null	Het
Cnot9	T	C	1: 74,561,533 (GRCm39)	V126A	probably benign	Het
Enpep	T	C	3: 129,125,731 (GRCm39)	T134A	possibly damaging	Het
Fastkd5	C	A	2: 130,458,297 (GRCm39)	A98S	probably benign	Het
Gsdmc	A	T	15: 63,676,284 (GRCm39)	I53N	possibly damaging	Het
Hexd	A	G	11: 121,111,986 (GRCm39)	S427G	probably benign	Het
Lrrk2	T	G	15: 91,664,044 (GRCm39)	L1927R	probably damaging	Het
Plec	A	G	15: 76,057,137 (GRCm39)	S4132P	probably damaging	Het
Rtn3	A	G	19: 7,412,434 (GRCm39)	L780P	probably damaging	Het
Serpinb9c	A	T	13: 33,335,867 (GRCm39)	V195E	probably damaging	Het
Slit2	T	C	5: 48,461,374 (GRCm39)	Y1474H	possibly damaging	Het
Taf15	A	G	11: 83,379,749 (GRCm39)		probably null	Het
Tbc1d17	A	G	7: 44,494,737 (GRCm39)	S194P	probably benign	Het
Tbc1d2b	T	C	9: 90,109,481 (GRCm39)	S332G	probably benign	Het
Tmpo	A	T	10: 90,998,420 (GRCm39)	S456T	possibly damaging	Het
Tubgcp2	A	G	7: 139,581,411 (GRCm39)	L608P	probably damaging	Het
Zfp39	T	A	11: 58,783,885 (GRCm39)		probably benign	Het
Zfp935	A	C	13: 62,602,278 (GRCm39)	N307K	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
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
R6676:Mia2	UTSW	12	59,155,156 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2012-12-06