Mutagenetix > Incidental Mutation

Incidental Mutation 'R7894:Mia2'

609538

Institutional Source

Beutler Lab

Gene Symbol

Mia2

Ensembl Gene

ENSMUSG00000021000

Gene Name

melanoma inhibitory activity 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59095799-59191583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59189647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 712 (Y712H)

Ref Sequence

ENSEMBL: ENSMUSP00000135245 (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 damaging
Transcript: ENSMUST00000069430
AA Change: Y745H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: Y745H

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 damaging
Transcript: ENSMUST00000170992
AA Change: Y723H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: Y723H

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: ENSMUST00000175685

Predicted Effect

probably damaging
Transcript: ENSMUST00000175877
AA Change: Y652H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: Y652H

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 damaging
Transcript: ENSMUST00000175912
AA Change: Y736H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: Y736H

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 damaging
Transcript: ENSMUST00000176322
AA Change: Y756H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: Y756H

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 damaging
Transcript: ENSMUST00000176464
AA Change: Y747H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: Y747H

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 damaging
Transcript: ENSMUST00000176892
AA Change: Y712H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: Y712H

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 damaging
Transcript: ENSMUST00000177162
AA Change: Y704H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: Y704H

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 damaging
Transcript: ENSMUST00000177225
AA Change: Y676H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: Y676H

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

noncoding transcript
Transcript: ENSMUST00000177222

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219140
AA Change: Y1348H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,106,589	M1551T	possibly damaging	Het
Abcc9	A	G	6: 142,594,007	*1547Q	probably null	Het
Adamts20	A	C	15: 94,351,760	C459G	probably damaging	Het
Adamts5	C	T	16: 85,877,920	W452*	probably null	Het
Adcy8	G	T	15: 64,920,205	Q301K	possibly damaging	Het
Adgrv1	A	C	13: 81,567,451	C873G	probably benign	Het
AI314180	T	C	4: 58,853,708	N361S	probably damaging	Het
Ak9	A	G	10: 41,420,539	D1427G	unknown	Het
Amy2a1	T	A	3: 113,530,541	M117L	possibly damaging	Het
Ap5z1	G	T	5: 142,466,284	R23L	probably benign	Het
Ap5z1	C	T	5: 142,470,436	Q337*	probably null	Het
Astn1	C	A	1: 158,601,938	Q759K	probably damaging	Het
Cd276	T	A	9: 58,537,479	T70S	possibly damaging	Het
Cd38	C	T	5: 43,900,404	T106I	probably damaging	Het
Cdon	C	G	9: 35,476,948	R740G	probably damaging	Het
Clk2	C	T	3: 89,168,894	R124W	possibly damaging	Het
Cyp1b1	C	T	17: 79,714,215	V33M	possibly damaging	Het
Dab1	T	A	4: 104,732,138	D547E	probably benign	Het
Degs1	A	T	1: 182,276,851	Y290N	probably damaging	Het
Degs1	G	C	1: 182,276,852	H289Q	probably benign	Het
Dopey2	T	A	16: 93,810,204	C2249S	probably benign	Het
Ehd4	A	C	2: 120,102,428	Y172*	probably null	Het
Erc2	A	G	14: 27,777,208	D347G	probably damaging	Het
Espl1	T	G	15: 102,304,025	V522G	probably damaging	Het
Fabp9	T	A	3: 10,197,167	T10S	probably benign	Het
Fam193a	T	C	5: 34,440,533	I558T	possibly damaging	Het
Fhod1	T	C	8: 105,331,157	E912G	probably damaging	Het
Gja1	T	C	10: 56,388,549	F335L	possibly damaging	Het
Gm14025	A	C	2: 129,037,129	V959G	unknown	Het
Gm29106	A	G	1: 118,199,535	H319R	probably damaging	Het
Hunk	C	T	16: 90,472,465	S299F	probably damaging	Het
Hydin	C	T	8: 110,513,010	T1974M	possibly damaging	Het
Ighv10-1	T	A	12: 114,479,030	T112S	probably damaging	Het
Ireb2	T	A	9: 54,882,336	V98E	probably damaging	Het
Irf4	A	C	13: 30,753,452	H167P	probably benign	Het
Irf6	C	T	1: 193,162,713	P164L	probably benign	Het
Josd1	A	G	15: 79,677,250	I119T	probably damaging	Het
Kcna5	G	T	6: 126,535,048	T39K	probably damaging	Het
Klhl24	A	G	16: 20,123,000	D566G	probably damaging	Het
Kmt2a	T	A	9: 44,849,857	K232*	probably null	Het
Krt36	A	G	11: 100,105,235	L121P	probably damaging	Het
Lama3	A	T	18: 12,462,807	H931L	probably benign	Het
Lamp3	A	T	16: 19,655,391	I411N	probably damaging	Het
Lingo3	C	T	10: 80,834,776	W440*	probably null	Het
Mlh1	T	A	9: 111,230,077		probably null	Het
Mta3	T	A	17: 83,762,934	S174T	probably benign	Het
Myo15	A	G	11: 60,491,137	T347A		Het
Naaladl2	C	T	3: 23,846,554	R704H	possibly damaging	Het
Nfib	T	C	4: 82,327,793	N394S	probably benign	Het
Nr2f2	A	G	7: 70,359,933	Y133H	probably damaging	Het
Olfr1220	A	G	2: 89,097,588	V113A	possibly damaging	Het
Olfr1314	A	T	2: 112,092,477	C75S	probably benign	Het
Olfr320	C	T	11: 58,684,674	S267F	possibly damaging	Het
Olfr486	T	A	7: 108,172,184	M187L	probably benign	Het
Olfr94	C	T	17: 37,197,156	E196K	probably damaging	Het
Phgdh	C	A	3: 98,339,808	V9L	probably damaging	Het
Pkd2	T	A	5: 104,480,237	D392E	probably damaging	Het
Plekhm3	A	G	1: 64,921,715	S461P	probably benign	Het
Prss39	A	G	1: 34,500,227	T183A	probably benign	Het
Pter	T	A	2: 12,994,755	I235K	probably damaging	Het
Ptp4a3	T	C	15: 73,756,907	V172A	probably benign	Het
Rasa2	T	C	9: 96,602,727	N145D	probably benign	Het
Rasal2	A	T	1: 157,243,648	H45Q	probably benign	Het
Rbm43	A	G	2: 51,925,897	V104A	probably damaging	Het
Rhbdd2	C	A	5: 135,639,115		probably null	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rimbp2	T	A	5: 128,761,464	N1023I	probably damaging	Het
Rtl1	A	T	12: 109,594,597	D269E	possibly damaging	Het
Sbp	A	G	17: 23,942,189		probably benign	Het
Sorbs1	T	A	19: 40,327,576	T374S	probably benign	Het
Tgs1	A	T	4: 3,598,652	K655I	probably benign	Het
Thsd1	A	C	8: 22,259,569	T819P	probably damaging	Het
Tmprss11c	C	T	5: 86,231,796	V418M	probably damaging	Het
Top2a	A	T	11: 99,009,605	D645E	probably damaging	Het
Top2b	G	A	14: 16,413,081	V997I	possibly damaging	Het
Ttc34	A	G	4: 154,859,383	D118G	probably damaging	Het
Ttll5	A	G	12: 85,889,174	D353G	probably damaging	Het
Uba6	A	T	5: 86,118,065	Y994*	probably null	Het
Vmn1r189	A	T	13: 22,101,736	Y310*	probably null	Het
Vps13c	T	A	9: 67,926,983	I1644N	probably damaging	Het
Zfp811	T	C	17: 32,798,847	D73G	possibly damaging	Het
Zfp951	A	T	5: 104,814,972	C243S	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
R7291:Mia2	UTSW	12	59158369	critical splice donor site	probably null
R7874:Mia2	UTSW	12	59108588	missense	probably damaging	0.99
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'- TGTGTAGCTGCTAAGATAGGAC -3'
(R):5'- AAGACGTAACGCTGTCAGG -3'

Sequencing Primer
(F):5'- CTGCTAAGATAGGACAAACGTACCTG -3'
(R):5'- TAACGCTGTCAGGCCTCC -3'

Posted On

2019-12-20