Mutagenetix > Incidental Mutations

Incidental Mutation 'R1848:Mia2'

207937

Institutional Source

Beutler Lab

Gene Symbol

Mia2

Ensembl Gene

ENSMUSG00000021000

Gene Name

melanoma inhibitory activity 2

Synonyms

MMRRC Submission

039873-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59095799-59191583 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 59170251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069430] [ENSMUST00000170992] [ENSMUST00000175877] [ENSMUST00000175912] [ENSMUST00000176322] [ENSMUST00000176336] [ENSMUST00000176464] [ENSMUST00000176727] [ENSMUST00000176752] [ENSMUST00000176892] [ENSMUST00000177162] [ENSMUST00000177225] [ENSMUST00000219140]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069430

SMART Domains

Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
SCOP:d1fxkc_	124	253	9e-6	SMART
SCOP:d1fxkc_	314	437	3e-16	SMART
low complexity region	480	493	N/A	INTRINSIC
low complexity region	533	556	N/A	INTRINSIC
low complexity region	682	700	N/A	INTRINSIC
low complexity region	707	717	N/A	INTRINSIC
low complexity region	722	742	N/A	INTRINSIC
low complexity region	751	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170992

SMART Domains

Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
SCOP:d1fxkc_	102	231	2e-6	SMART
SCOP:d1fxkc_	292	415	2e-17	SMART
low complexity region	458	471	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC
low complexity region	660	678	N/A	INTRINSIC
low complexity region	685	695	N/A	INTRINSIC
low complexity region	700	720	N/A	INTRINSIC
low complexity region	729	753	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175659

Predicted Effect

probably benign
Transcript: ENSMUST00000175837

SMART Domains

Protein: ENSMUSP00000134828
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	3	90	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175877

SMART Domains

Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d1fxkc_	74	203	1e-5	SMART
SCOP:d1fxkc_	264	387	6e-16	SMART
low complexity region	430	443	N/A	INTRINSIC
low complexity region	589	607	N/A	INTRINSIC
low complexity region	614	624	N/A	INTRINSIC
low complexity region	629	649	N/A	INTRINSIC
low complexity region	658	682	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175912

SMART Domains

Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
SCOP:d1fxkc_	115	244	8e-6	SMART
SCOP:d1fxkc_	305	428	2e-16	SMART
low complexity region	471	484	N/A	INTRINSIC
low complexity region	524	547	N/A	INTRINSIC
low complexity region	673	691	N/A	INTRINSIC
low complexity region	698	708	N/A	INTRINSIC
low complexity region	713	733	N/A	INTRINSIC
low complexity region	742	766	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176223

Predicted Effect

probably benign
Transcript: ENSMUST00000176322

SMART Domains

Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
SCOP:d1fxkc_	135	264	4e-6	SMART
SCOP:d1fxkc_	325	448	9e-17	SMART
low complexity region	491	504	N/A	INTRINSIC
low complexity region	544	567	N/A	INTRINSIC
low complexity region	693	711	N/A	INTRINSIC
low complexity region	718	728	N/A	INTRINSIC
low complexity region	733	753	N/A	INTRINSIC
low complexity region	762	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176336

SMART Domains

Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
coiled coil region	55	235	N/A	INTRINSIC
SCOP:d1fxkc_	281	404	6e-8	SMART
low complexity region	447	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176464

SMART Domains

Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
SCOP:d1fxkc_	126	255	4e-6	SMART
SCOP:d1fxkc_	316	439	8e-17	SMART
low complexity region	482	495	N/A	INTRINSIC
low complexity region	535	558	N/A	INTRINSIC
low complexity region	684	702	N/A	INTRINSIC
low complexity region	709	719	N/A	INTRINSIC
low complexity region	724	744	N/A	INTRINSIC
low complexity region	753	777	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176617

Predicted Effect

probably benign
Transcript: ENSMUST00000176727

SMART Domains

Protein: ENSMUSP00000135694
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176752

SMART Domains

Protein: ENSMUSP00000134972
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176892

SMART Domains

Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
SCOP:d1fxkc_	91	220	4e-6	SMART
SCOP:d1fxkc_	281	404	8e-17	SMART
low complexity region	447	460	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC
low complexity region	649	667	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC
low complexity region	689	709	N/A	INTRINSIC
low complexity region	718	742	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177162

SMART Domains

Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
SCOP:d1fxkc_	126	255	2e-5	SMART
SCOP:d1fxkc_	316	439	8e-16	SMART
low complexity region	482	495	N/A	INTRINSIC
low complexity region	641	659	N/A	INTRINSIC
low complexity region	666	676	N/A	INTRINSIC
low complexity region	681	701	N/A	INTRINSIC
low complexity region	710	734	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177222

Predicted Effect

probably benign
Transcript: ENSMUST00000177225

SMART Domains

Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
SCOP:d1fxkc_	98	227	3e-5	SMART
SCOP:d1fxkc_	288	411	2e-15	SMART
low complexity region	454	467	N/A	INTRINSIC
low complexity region	613	631	N/A	INTRINSIC
low complexity region	638	648	N/A	INTRINSIC
low complexity region	653	673	N/A	INTRINSIC
low complexity region	682	706	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219140

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902	D271E	probably benign	Het
Acan	T	C	7: 79,099,035	F1185L	probably benign	Het
Adam1a	A	T	5: 121,519,620	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677	Y329*	probably null	Het
Atm	A	T	9: 53,468,012	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206		probably benign	Het
Cdc34b	C	A	11: 94,742,477	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,906,615	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fat2	A	G	11: 55,311,558	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036		probably benign	Het
Grb10	A	G	11: 11,946,029	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795		probably benign	Het
Haus8	G	A	8: 71,256,123		probably benign	Het
Hip1	G	A	5: 135,435,141		probably null	Het
Hist3h2ba	A	T	11: 58,949,102	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764		probably null	Het
Htr2b	T	A	1: 86,099,429	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655	M40I	probably damaging	Het
Miip	A	C	4: 147,863,092	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551		probably benign	Het
Myh1	A	G	11: 67,213,630	K1004R	probably benign	Het
Myh14	T	A	7: 44,632,429	I810F	probably damaging	Het
Nbas	A	C	12: 13,413,597	D1295A	probably damaging	Het
Npr2	T	G	4: 43,632,384	V67G	probably benign	Het
Oas1f	C	A	5: 120,855,429	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Pde1b	A	G	15: 103,525,340		probably null	Het
Pdilt	T	C	7: 119,489,384	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591		probably benign	Het
Prmt7	T	C	8: 106,237,008	V240A	probably benign	Het
Prx	C	A	7: 27,518,888	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813		probably null	Het
Rnf150	A	T	8: 82,864,010	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013		probably null	Het
Sdad1	A	G	5: 92,292,651		probably null	Het
Sept9	T	C	11: 117,353,083		probably benign	Het
Serinc3	T	C	2: 163,645,489		probably benign	Het
Shc3	C	T	13: 51,461,388	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111	I376V	probably benign	Het
Slmap	A	T	14: 26,422,574	F719L	probably benign	Het
Smgc	A	G	15: 91,859,758	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079		probably null	Het
Srrt	C	G	5: 137,296,945	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640		probably benign	Het
Tspan31	A	G	10: 127,069,458	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227		probably benign	Het
Vcl	G	T	14: 21,008,995	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572	D416G	probably benign	Het

Other mutations in Mia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00717:Mia2	APN	12	59160273	splice site	probably benign
IGL00791:Mia2	APN	12	59108299	missense	possibly damaging	0.82
IGL00821:Mia2	APN	12	59170320	critical splice donor site	probably null
IGL00901:Mia2	APN	12	59108029	missense	probably damaging	1.00
IGL00985:Mia2	APN	12	59188360	missense	probably damaging	1.00
IGL01304:Mia2	APN	12	59104538	missense	probably damaging	1.00
IGL01909:Mia2	APN	12	59107945	missense	possibly damaging	0.94
IGL02646:Mia2	APN	12	59108836	missense	probably damaging	1.00
IGL02800:Mia2	APN	12	59188491	nonsense	probably null
IGL03332:Mia2	APN	12	59108398	missense	probably damaging	0.97
PIT4812001:Mia2	UTSW	12	59101579	missense	possibly damaging	0.92
R0242:Mia2	UTSW	12	59108856	missense	probably damaging	1.00
R0242:Mia2	UTSW	12	59108856	missense	probably damaging	1.00
R0449:Mia2	UTSW	12	59172594	critical splice donor site	probably null
R0620:Mia2	UTSW	12	59154419	missense	possibly damaging	0.96
R0622:Mia2	UTSW	12	59131578	missense	probably damaging	0.98
R0632:Mia2	UTSW	12	59136143	missense	probably damaging	0.99
R1643:Mia2	UTSW	12	59179845	splice site	probably null
R1654:Mia2	UTSW	12	59108833	missense	possibly damaging	0.92
R1706:Mia2	UTSW	12	59144766	nonsense	probably null
R1776:Mia2	UTSW	12	59149575	splice site	probably benign
R2240:Mia2	UTSW	12	59107882	missense	probably benign	0.01
R2698:Mia2	UTSW	12	59170994	critical splice donor site	probably null
R2860:Mia2	UTSW	12	59154410	missense	probably damaging	0.98
R2861:Mia2	UTSW	12	59154410	missense	probably damaging	0.98
R2862:Mia2	UTSW	12	59154410	missense	probably damaging	0.98
R3429:Mia2	UTSW	12	59189641	missense	possibly damaging	0.89
R3861:Mia2	UTSW	12	59109021	missense	probably benign	0.00
R3965:Mia2	UTSW	12	59176372	missense	probably damaging	1.00
R5156:Mia2	UTSW	12	59172537	missense	possibly damaging	0.94
R5249:Mia2	UTSW	12	59108125	missense	probably damaging	0.99
R5330:Mia2	UTSW	12	59095812	missense	probably benign	0.01
R5331:Mia2	UTSW	12	59095812	missense	probably benign	0.01
R5815:Mia2	UTSW	12	59174106	missense	possibly damaging	0.95
R5972:Mia2	UTSW	12	59146937	missense	probably damaging	1.00
R6651:Mia2	UTSW	12	59154362	missense	possibly damaging	0.78
R6676:Mia2	UTSW	12	59108370	missense	probably damaging	0.97
R6695:Mia2	UTSW	12	59172580	missense	probably damaging	0.99
R6800:Mia2	UTSW	12	59188546	critical splice donor site	probably null
R6845:Mia2	UTSW	12	59184278	nonsense	probably null
R6919:Mia2	UTSW	12	59129895	missense	possibly damaging	0.74
R7058:Mia2	UTSW	12	59184235	missense	possibly damaging	0.77
R7209:Mia2	UTSW	12	59154390	missense	possibly damaging	0.55
R7274:Mia2	UTSW	12	59108119	missense	probably damaging	0.99
R7291:Mia2	UTSW	12	59158369	critical splice donor site	probably null
R7874:Mia2	UTSW	12	59108588	missense	probably damaging	0.99
R7894:Mia2	UTSW	12	59189647	missense	probably damaging	1.00
R7961:Mia2	UTSW	12	59159639	critical splice donor site	probably null
R7980:Mia2	UTSW	12	59108865	missense	probably damaging	0.98
R8110:Mia2	UTSW	12	59109087	splice site	probably null
R8557:Mia2	UTSW	12	59101488	missense	probably damaging	0.97
R9031:Mia2	UTSW	12	59108800	missense	probably damaging	1.00
R9214:Mia2	UTSW	12	59176364	missense	possibly damaging	0.92
R9433:Mia2	UTSW	12	59101585	missense	probably damaging	1.00
X0063:Mia2	UTSW	12	59136139	missense	probably damaging	0.99
Z1176:Mia2	UTSW	12	59108124	missense	probably benign	0.27
Z1176:Mia2	UTSW	12	59108801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTGGTACTCATACGGCTTAC -3'
(R):5'- GTATCACAGGCTCCTCAACTC -3'

Sequencing Primer
(F):5'- ACTCATACGGCTTACTTGAGG -3'
(R):5'- AGGCTCCTCAACTCCTCAGG -3'

Posted On

2014-06-23