Mutagenetix > Incidental Mutations

Incidental Mutation 'R7291:Mia2'

566432

Institutional Source

Beutler Lab

Gene Symbol

Mia2

Ensembl Gene

ENSMUSG00000021000

Gene Name

melanoma inhibitory activity 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59095799-59191583 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 59158369 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135245 (fasta)

Gene Model

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

Predicted Effect

probably null
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 null
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

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 null
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 null
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

probably null
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 null
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 null
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 null
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

probably null
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 null
Transcript: ENSMUST00000219140

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Ablim1	T	C	19: 57,215,908	E17G	probably benign	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,175,024	V701I	probably benign	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Slc35f3	T	G	8: 126,394,558	L386R	probably benign	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Trdn	A	T	10: 33,437,736	E500V	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Unc13d	T	C	11: 116,074,050	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	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
R1848:Mia2	UTSW	12	59170251	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
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
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'- ATCGACCTCGGTACATTGC -3'
(R):5'- AACCTGAAAACTAGCCTCTGTG -3'

Sequencing Primer
(F):5'- GACCTCGGTACATTGCTAACTTG -3'
(R):5'- TGAAAACTAGCCTCTGTGAAGAC -3'

Posted On

2019-06-26