Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Mia2'

423176

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

042912-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59142368-59237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59142598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 5 (S5G)

Ref Sequence

ENSEMBL: ENSMUSP00000021384 (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: S5G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: S5G

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

noncoding transcript
Transcript: ENSMUST00000080223

Predicted Effect

probably benign
Transcript: ENSMUST00000219140
AA Change: S5G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221093

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Abca16	T	A	7: 120,102,600 (GRCm39)	I833N	probably benign	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Aktip	A	T	8: 91,853,352 (GRCm39)	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,315,351 (GRCm39)	L500*	probably null	Het
Blm	T	C	7: 80,108,684 (GRCm39)	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,209,929 (GRCm39)		probably null	Het
Cdca7	T	C	2: 72,315,042 (GRCm39)	C311R	probably damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,261 (GRCm39)	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,613,414 (GRCm39)	Y203*	probably null	Het
Dchs1	A	T	7: 105,403,809 (GRCm39)	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,495,787 (GRCm39)	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,542,871 (GRCm39)	T3514A	probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm10313	T	A	8: 46,708,490 (GRCm39)		noncoding transcript	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hivep2	A	G	10: 14,007,164 (GRCm39)	K1254R	probably damaging	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Lct	A	T	1: 128,226,266 (GRCm39)	D1374E	probably benign	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mark4	G	A	7: 19,170,908 (GRCm39)	P321S	probably damaging	Het
Med18	A	G	4: 132,190,377 (GRCm39)		probably benign	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nob1	T	G	8: 108,142,881 (GRCm39)	T267P	probably damaging	Het
Nos3	A	G	5: 24,574,902 (GRCm39)	E307G	probably damaging	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Pcdh17	T	A	14: 84,770,486 (GRCm39)	V988E	probably damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Phlpp2	A	G	8: 110,660,667 (GRCm39)	D774G	probably damaging	Het
Pibf1	T	C	14: 99,378,082 (GRCm39)	Y403H	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,463,076 (GRCm39)	D189V	probably damaging	Het
Relb	C	T	7: 19,340,630 (GRCm39)	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,343,351 (GRCm39)	Y314N	possibly damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Snta1	C	A	2: 154,219,940 (GRCm39)	E403*	probably null	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,848,217 (GRCm39)	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,080,409 (GRCm39)	I834N	possibly damaging	Het
Steap1	G	T	5: 5,790,422 (GRCm39)	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,147,679 (GRCm39)	E204G	possibly damaging	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tecta	A	C	9: 42,249,152 (GRCm39)	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,004,935 (GRCm39)	M34R	possibly damaging	Het
Tnik	A	G	3: 28,596,167 (GRCm39)	T187A	probably damaging	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ttll13	T	C	7: 79,910,257 (GRCm39)	V800A	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,513,384 (GRCm39)	Q420*	probably null	Het
Zranb3	G	A	1: 127,887,457 (GRCm39)	P990L	probably damaging	Het
Zswim9	T	A	7: 12,993,912 (GRCm39)	D748V	probably damaging	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
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'- TACCTGACTCTGCAGACTGAGAC -3'
(R):5'- TTTGCCCCACAAGTTCACCG -3'

Sequencing Primer
(F):5'- AATTTCTGAAGCTGGGCCAG -3'
(R):5'- CCACAAGTTCACCGTGAGATTTAATG -3'

Posted On

2016-08-04