Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Mia2'

398860

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

042820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59142368-59237006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59154911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 209 (D209V)

Ref Sequence

ENSEMBL: ENSMUSP00000151482 (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: D208V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: D208V

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 damaging
Transcript: ENSMUST00000219140
AA Change: D209V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221093

Meta Mutation Damage Score

0.0989

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	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
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'- GGCTACATATTTGGAAGTGAACAG -3'
(R):5'- GCCACTGTGTAATTTCTCCAGG -3'

Sequencing Primer
(F):5'- GTACCCATATGAAAAAGATGAAGACC -3'
(R):5'- ACTGTGTAATTTCTCCAGGTCACTC -3'

Posted On

2016-07-06