Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Mia2'

59584

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

038480-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0242 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59142368-59237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59155642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 452 (Y452H)

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: Y452H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: Y452H

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: Y453H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221093

Meta Mutation Damage Score

0.2514

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,676 (GRCm39)	D230G	probably benign	Het
Abhd13	A	G	8: 10,037,561 (GRCm39)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,544,821 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,794,088 (GRCm39)	A596V	probably damaging	Het
Aldh3b2	T	A	19: 4,029,414 (GRCm39)	Y262*	probably null	Het
Ambn	A	G	5: 88,615,831 (GRCm39)	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,750,344 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,407 (GRCm39)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,019,933 (GRCm39)	G435E	probably damaging	Het
Armc12	A	T	17: 28,751,366 (GRCm39)	D120V	possibly damaging	Het
Asxl3	G	A	18: 22,649,738 (GRCm39)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,776 (GRCm39)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,546,437 (GRCm39)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,744,452 (GRCm39)	S991N	probably damaging	Het
Cd96	T	C	16: 45,892,129 (GRCm39)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,009,237 (GRCm39)	F480L	probably benign	Het
Celf5	T	C	10: 81,300,243 (GRCm39)	T258A	probably benign	Het
Cgnl1	A	G	9: 71,628,939 (GRCm39)	V577A	probably damaging	Het
Clca3b	A	G	3: 144,547,226 (GRCm39)	S304P	probably benign	Het
Cmya5	A	T	13: 93,232,108 (GRCm39)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,822,746 (GRCm39)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,360,907 (GRCm39)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,941,817 (GRCm39)	N11S	probably benign	Het
Coro7	T	C	16: 4,448,042 (GRCm39)		probably benign	Het
Cpvl	T	C	6: 53,909,485 (GRCm39)	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,075,447 (GRCm39)		probably benign	Het
Cyp2c66	A	G	19: 39,130,369 (GRCm39)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,668,710 (GRCm39)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,777,562 (GRCm39)	D268G	probably benign	Het
Dnm1	T	A	2: 32,207,001 (GRCm39)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,850,517 (GRCm39)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,326,275 (GRCm39)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,616,285 (GRCm39)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,548,761 (GRCm39)	E21G	probably null	Het
Fam120b	T	A	17: 15,643,186 (GRCm39)	V655D	probably damaging	Het
Fkbp5	A	T	17: 28,647,426 (GRCm39)	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,289,573 (GRCm39)	Y179*	probably null	Het
Gfer	A	G	17: 24,913,277 (GRCm39)	W192R	probably damaging	Het
Gm4782	A	G	6: 50,586,838 (GRCm39)	T408A	probably benign	Het
Golgb1	C	T	16: 36,695,992 (GRCm39)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,024,276 (GRCm39)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,310,802 (GRCm39)	T414M	probably benign	Het
Hc	A	G	2: 34,926,166 (GRCm39)		probably benign	Het
Hcfc1	A	T	X: 72,992,035 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,872,223 (GRCm39)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 93,988,160 (GRCm39)	I19F	probably benign	Het
Incenp	T	C	19: 9,871,114 (GRCm39)	T172A	unknown	Het
Jmy	A	G	13: 93,578,126 (GRCm39)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,077,508 (GRCm39)	T36A	probably benign	Het
Kcnh4	T	C	11: 100,646,525 (GRCm39)	D267G	probably damaging	Het
Krt34	C	T	11: 99,932,157 (GRCm39)	E56K	probably damaging	Het
Krt40	T	A	11: 99,429,568 (GRCm39)	E335D	probably damaging	Het
Krt86	T	A	15: 101,374,454 (GRCm39)	Y282*	probably null	Het
Lgi3	C	T	14: 70,772,255 (GRCm39)	R267*	probably null	Het
Lnpk	A	G	2: 74,367,633 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,888,195 (GRCm39)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,285,401 (GRCm39)	R542H	probably benign	Het
Mmachc	C	T	4: 116,561,738 (GRCm39)	R132Q	probably damaging	Het
Mtbp	T	A	15: 55,440,882 (GRCm39)	N356K	possibly damaging	Het
Myo5b	A	G	18: 74,794,787 (GRCm39)	H552R	possibly damaging	Het
Niban1	A	G	1: 151,593,967 (GRCm39)	D884G	probably benign	Het
Noxred1	A	G	12: 87,273,753 (GRCm39)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,929,839 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,211,516 (GRCm39)	V786D	probably damaging	Het
Or1r1	T	C	11: 73,874,538 (GRCm39)	S299G	probably benign	Het
Or6c1b	T	A	10: 129,273,217 (GRCm39)	Y179N	probably damaging	Het
Otog	G	T	7: 45,916,805 (GRCm39)	C914F	probably damaging	Het
Pank2	G	T	2: 131,122,117 (GRCm39)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,399,788 (GRCm39)	S580T	probably benign	Het
Pdia3	T	C	2: 121,244,592 (GRCm39)	S2P	probably damaging	Het
Peli1	G	T	11: 21,092,602 (GRCm39)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,441,935 (GRCm39)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm39)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,668,816 (GRCm39)	C532R	probably damaging	Het
Prph	A	T	15: 98,953,608 (GRCm39)	D174V	probably damaging	Het
Psd3	A	G	8: 68,210,738 (GRCm39)	M270T	probably damaging	Het
Pum3	A	G	19: 27,400,155 (GRCm39)		probably benign	Het
Pus1	A	T	5: 110,927,664 (GRCm39)	H30Q	probably benign	Het
Pwwp3a	T	C	10: 80,070,092 (GRCm39)	S354P	probably benign	Het
Rab7	A	T	6: 87,982,114 (GRCm39)	V87E	probably damaging	Het
Rbm5	A	T	9: 107,628,907 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,147,595 (GRCm39)		probably null	Het
S1pr3	A	G	13: 51,572,938 (GRCm39)	T40A	probably benign	Het
Sdk1	T	A	5: 142,129,677 (GRCm39)		probably benign	Het
Senp7	T	A	16: 55,999,884 (GRCm39)	I853N	probably damaging	Het
Serpinb6c	T	A	13: 34,083,230 (GRCm39)		probably benign	Het
Shroom1	T	G	11: 53,356,312 (GRCm39)		probably null	Het
Slc24a3	T	C	2: 145,448,584 (GRCm39)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,359,493 (GRCm39)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,666,733 (GRCm39)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,674,286 (GRCm39)	I924N	probably damaging	Het
Slx4	T	A	16: 3,804,816 (GRCm39)	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,652,575 (GRCm39)		probably benign	Het
Sorcs1	C	T	19: 50,216,659 (GRCm39)	G640E	probably damaging	Het
Spmap2l	G	T	5: 77,164,152 (GRCm39)	E52*	probably null	Het
Sptan1	A	T	2: 29,908,413 (GRCm39)	M1725L	probably benign	Het
Sync	G	A	4: 129,187,514 (GRCm39)	R182K	probably damaging	Het
Syne2	G	A	12: 76,144,808 (GRCm39)	G1586S	probably damaging	Het
Sytl1	G	T	4: 132,980,768 (GRCm39)	T522K	probably damaging	Het
Tex2	T	A	11: 106,410,781 (GRCm39)	K414*	probably null	Het
Tex55	C	T	16: 38,644,929 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,503,915 (GRCm39)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,875,392 (GRCm39)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,656,496 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,054 (GRCm39)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,842,762 (GRCm39)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,197,988 (GRCm39)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,738,330 (GRCm39)	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,653,031 (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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTTACAAATGCCGACGAAGAC -3'
(R):5'- ACCTGACAGAACGTATCTGCTCGC -3'

Sequencing Primer
(F):5'- CGACGAAGACAACATTGTTTCAG -3'
(R):5'- GTATCTGCTCGCCAGCATC -3'

Posted On

2013-07-11