Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Mia2'

533294

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: 0.953) question?

Stock #

R6800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59095799-59191583 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 59188546 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] [ENSMUST00000176752] [ENSMUST00000176892] [ENSMUST00000177162] [ENSMUST00000177225] [ENSMUST00000219140]

AlphaFold

no structure available at present

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: 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

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,288,279	F2091S	probably benign	Het
4930486L24Rik	G	A	13: 60,845,134	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 128,237,570		probably benign	Het
Acoxl	A	T	2: 128,010,165	Q129L	probably damaging	Het
Akna	T	C	4: 63,398,031	T32A	probably benign	Het
Alox15	C	T	11: 70,344,819		probably null	Het
Antxrl	T	C	14: 34,065,907	S296P	probably damaging	Het
Arrb2	G	T	11: 70,437,316	G52*	probably null	Het
BC067074	T	A	13: 113,368,152	D396E	probably benign	Het
Capn2	A	T	1: 182,481,480	I499N	probably damaging	Het
Cubn	T	A	2: 13,321,255	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,625,669	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,409,183	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,340,217	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 66,072,739		probably null	Het
Elac2	G	A	11: 64,999,439		probably null	Het
Erich3	A	T	3: 154,727,392		probably null	Het
Espnl	T	C	1: 91,342,629	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,538,698		probably benign	Het
Fdps	A	C	3: 89,100,761	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,419,176	I576T	possibly damaging	Het
Gm20939	A	G	17: 94,877,229	E435G	possibly damaging	Het
Gm4788	T	A	1: 139,701,981	D683V	possibly damaging	Het
Hivep1	G	A	13: 42,157,376	V1031I	probably damaging	Het
Hydin	T	G	8: 110,597,971	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,223,158		probably benign	Het
Iqgap1	G	T	7: 80,728,981	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,793,809	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,141,580	*1373W	probably null	Het
Micu2	T	C	14: 57,919,439	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,981,623	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,192,404	V17A	probably benign	Het
Neurod4	A	T	10: 130,270,792	Y204*	probably null	Het
Olfr134	A	G	17: 38,175,122	I13V	probably benign	Het
Olfr492	G	A	7: 108,323,253	T141I	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,010	V97E	probably benign	Het
Olfr792	A	T	10: 129,541,263	H242L	probably damaging	Het
Pate2	T	C	9: 35,685,645		probably benign	Het
Pcdhgb8	G	A	18: 37,763,527	R550Q	probably benign	Het
Phldb3	T	C	7: 24,624,152	L437P	possibly damaging	Het
Pianp	C	A	6: 125,001,602	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,985,064	H140Q	possibly damaging	Het
Rfx2	A	G	17: 56,780,804	I529T	probably damaging	Het
Rnf113a1	A	C	X: 37,192,187	T266P	probably benign	Het
Rp1l1	T	C	14: 64,031,150	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,251,636	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Rtel1	C	A	2: 181,322,463	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,880,623	N99S	probably damaging	Het
Ryr1	C	T	7: 29,024,316	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,738,469	V71A	probably benign	Het
Sgip1	A	G	4: 102,921,028		probably benign	Het
Slc12a4	G	A	8: 105,949,739	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,749	R286*	probably null	Het
Strbp	C	T	2: 37,625,216	R266Q	probably damaging	Het
Strn	G	T	17: 78,670,358		probably benign	Het
Thnsl2	C	A	6: 71,141,280	V55L	probably benign	Het
Tmem178b	A	T	6: 40,254,924	Q164L	unknown	Het
Tmprss6	C	T	15: 78,440,257	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,941,202	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,208,650		probably null	Het
Vmn2r51	T	C	7: 10,098,264	D465G	probably damaging	Het
Vmp1	A	C	11: 86,666,087		probably null	Het
Wdcp	T	C	12: 4,851,358	F405L	probably damaging	Het
Zfhx3	A	T	8: 108,949,517	T2400S	probably benign	Het
Zfp27	T	C	7: 29,894,435	T702A	probably benign	Het
Zfp72	T	C	13: 74,371,961	S333G	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
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
R9077:Mia2	UTSW	12	59179974	missense	possibly damaging	0.94
R9113:Mia2	UTSW	12	59170267	utr 3 prime	probably benign
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'- TCCTATCCCTGCTGAATGCG -3'
(R):5'- GTGGTTTTCTGAACTATCACAATACAG -3'

Sequencing Primer
(F):5'- AGCTGGCCGTGGCTTCTTC -3'
(R):5'- TGAAAACTTAGCTAAGGTGGATGG -3'

Posted On

2018-09-12