Mutagenetix > Incidental Mutations

Incidental Mutation 'R7209:Mia2'

560951

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: 0.959) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59095799-59191583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59154390 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 198 (V198E)

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] [ENSMUST00000177370] [ENSMUST00000219140]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069430
AA Change: V231E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: V231E

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

possibly damaging
Transcript: ENSMUST00000170992
AA Change: V209E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: V209E

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

possibly damaging
Transcript: ENSMUST00000175877
AA Change: V181E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: V181E

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

possibly damaging
Transcript: ENSMUST00000175912
AA Change: V222E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: V222E

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

possibly damaging
Transcript: ENSMUST00000176322
AA Change: V242E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: V242E

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
AA Change: V198E

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: V198E

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

possibly damaging
Transcript: ENSMUST00000176464
AA Change: V233E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: V233E

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: 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

possibly damaging
Transcript: ENSMUST00000176892
AA Change: V198E

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: V198E

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

possibly damaging
Transcript: ENSMUST00000177162
AA Change: V233E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: V233E

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

possibly damaging
Transcript: ENSMUST00000177225
AA Change: V205E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: V205E

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: ENSMUST00000177370

SMART Domains

Protein: ENSMUSP00000135179
Gene: ENSMUSG00000021000

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
coiled coil region	95	167	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219140
AA Change: V834E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	A	1: 105,750,357	P1136T	probably damaging	Het
Adam7	A	G	14: 68,529,819	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,569,948	V966G	possibly damaging	Het
Adh5	G	A	3: 138,443,148		probably benign	Het
Akr1b8	T	C	6: 34,356,272	V28A	probably damaging	Het
Apbb1	T	A	7: 105,566,085	I450F	probably damaging	Het
Arhgap23	G	C	11: 97,492,447		probably null	Het
Arhgap23	C	T	11: 97,476,085	T1064I	probably damaging	Het
Atg4b	A	G	1: 93,775,233	I128M	probably damaging	Het
B230118H07Rik	T	C	2: 101,566,382	*217W	probably null	Het
Baat	A	T	4: 49,503,065	I19N	probably damaging	Het
Bspry	T	G	4: 62,486,615	I216S	possibly damaging	Het
Commd9	T	A	2: 101,895,138	S19T	possibly damaging	Het
Cr2	A	G	1: 195,168,724	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,689,205	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,382,855	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,464,623	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,225	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,386,040	H89Q	probably damaging	Het
Dopey2	T	A	16: 93,769,845	N1171K	probably benign	Het
Dscam	T	C	16: 96,650,344		probably null	Het
Entpd5	T	A	12: 84,396,928	S14C	probably benign	Het
Eqtn	G	A	4: 94,925,569	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704	D197E	probably benign	Het
Fgf18	A	T	11: 33,134,315	D46E	probably benign	Het
Foxa1	T	A	12: 57,543,291	M48L	probably benign	Het
Gabrg1	C	A	5: 70,754,170	C417F	probably damaging	Het
Glrp1	T	A	1: 88,503,282	Q122L	unknown	Het
Gm5286	A	T	3: 94,198,705	Q110L	probably benign	Het
Gm5622	A	G	14: 51,655,906	I97V	possibly damaging	Het
Gusb	A	G	5: 129,998,546	V306A	probably benign	Het
Hars	A	G	18: 36,773,540	S126P	probably benign	Het
Herc1	A	G	9: 66,385,032	S356G	possibly damaging	Het
Hydin	C	A	8: 110,489,792	Y1336*	probably null	Het
Kin	T	C	2: 10,091,753	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,732,417	V101M	probably benign	Het
Madcam1	A	T	10: 79,665,058	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,647,079	C112R	unknown	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,529,996	V21M	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nln	G	A	13: 104,072,898	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,710,370	V82A	probably benign	Het
Obscn	C	A	11: 59,085,107	E2065*	probably null	Het
Olfr1510	A	G	14: 52,410,093	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,870,864		probably null	Het
Plekhh1	C	A	12: 79,050,376	D99E	probably benign	Het
Polr2b	T	A	5: 77,343,179	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,267,498	F20L	probably benign	Het
Prmt9	T	C	8: 77,564,998	V333A	probably benign	Het
Psd4	T	C	2: 24,397,345	S430P	probably damaging	Het
Rrp12	A	C	19: 41,872,949	V973G	possibly damaging	Het
Rxfp2	A	G	5: 150,053,098		probably null	Het
S100a6	G	A	3: 90,613,788	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,854,325	G717V	probably damaging	Het
Sipa1	A	G	19: 5,654,975	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,635,212		probably null	Het
Srbd1	C	A	17: 86,001,520	L743F	probably damaging	Het
Taar2	A	T	10: 23,940,699	I46F	possibly damaging	Het
Tcrg-C3	A	G	13: 19,261,164	N94S	probably benign	Het
Tmem241	A	T	18: 12,104,172	V69D	probably damaging	Het
Tns1	T	C	1: 73,953,915	S535G	possibly damaging	Het
Ttc34	C	A	4: 154,839,128	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,862,765	R1720L	probably benign	Het
Ubr3	T	A	2: 70,016,134	D1597E	probably benign	Het
Unc79	T	C	12: 103,125,624	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,531,314	I603F	not run	Het
Vps26b	A	T	9: 27,009,992	S304T	probably benign	Het
Zfp952	A	T	17: 33,003,470	T308S	possibly damaging	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
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
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'- AAGACTTGACTGGCTGGATAC -3'
(R):5'- TACCAAGCTAAAATCCTGGAGGG -3'

Sequencing Primer
(F):5'- CTTTAATCCCAGTACTCGGGAGG -3'
(R):5'- TCCTGGAGGGACACAGTCAG -3'

Posted On

2019-06-26