Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Mia3'

570707

Institutional Source

Beutler Lab

Gene Symbol

Mia3

Ensembl Gene

ENSMUSG00000056050

Gene Name

melanoma inhibitory activity 3

Synonyms

9130229H14Rik, B230399H06Rik, LOC385255, A930039G15Rik, Tango

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

183326725-183369553 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 183327392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 446 (A446D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109158] [ENSMUST00000109166] [ENSMUST00000193625]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: A446D

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SH3	48	106	2.78e-2	SMART
low complexity region	138	147	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC
low complexity region	389	407	N/A	INTRINSIC
low complexity region	767	774	N/A	INTRINSIC
coiled coil region	1240	1329	N/A	INTRINSIC
coiled coil region	1362	1427	N/A	INTRINSIC
low complexity region	1433	1446	N/A	INTRINSIC
coiled coil region	1517	1565	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109158
AA Change: A765D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: A765D

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
SCOP:d1fxkc_	159	274	2e-4	SMART
low complexity region	281	294	N/A	INTRINSIC
SCOP:d1fxkc_	365	463	1e-3	SMART
low complexity region	482	498	N/A	INTRINSIC
low complexity region	557	567	N/A	INTRINSIC
low complexity region	609	626	N/A	INTRINSIC
low complexity region	635	661	N/A	INTRINSIC
low complexity region	665	680	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109166

SMART Domains

Protein: ENSMUSP00000104795
Gene: ENSMUSG00000042901

Domain	Start	End	E-Value	Type
Pfam:Aida_N	9	112	1.9e-43	PFAM
low complexity region	122	144	N/A	INTRINSIC
Pfam:Aida_C2	155	300	2.4e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193625

SMART Domains

Protein: ENSMUSP00000141649
Gene: ENSMUSG00000042901

Domain	Start	End	E-Value	Type
Pfam:Aida_N	8	113	2.3e-49	PFAM
low complexity region	122	144	N/A	INTRINSIC
Pfam:Aida_C2	145	219	6.4e-36	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous null for the large isoform display complete perinatal lethality with impaired collagen secretion, intracellular collagen aggregates, short limbed dwarfism, and arrest of chondrocyte maturation. [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
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	probably benign	Het

Other mutations in Mia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1037:Mia3	UTSW	1	183357354	missense	probably benign	0.06
R1489:Mia3	UTSW	1	183338674	missense	probably benign
R1997:Mia3	UTSW	1	183344286	missense	possibly damaging	0.72
R2261:Mia3	UTSW	1	183334793	missense	probably benign	0.00
R2263:Mia3	UTSW	1	183334793	missense	probably benign	0.00
R2334:Mia3	UTSW	1	183334402	critical splice donor site	probably null
R3417:Mia3	UTSW	1	183362100	missense	probably damaging	1.00
R3872:Mia3	UTSW	1	183356998	missense	probably benign	0.04
R3943:Mia3	UTSW	1	183358783	missense	possibly damaging	0.54
R4398:Mia3	UTSW	1	183330878	missense	probably damaging	1.00
R4746:Mia3	UTSW	1	183345220	missense	possibly damaging	0.80
R4814:Mia3	UTSW	1	183332830	missense	probably damaging	0.98
R4975:Mia3	UTSW	1	183331115	missense	probably benign	0.02
R5104:Mia3	UTSW	1	183338132	missense	probably damaging	0.98
R5174:Mia3	UTSW	1	183331493	nonsense	probably null
R5272:Mia3	UTSW	1	183328270	nonsense	probably null
R5445:Mia3	UTSW	1	183336022	missense	probably benign	0.06
R5651:Mia3	UTSW	1	183358654	missense	probably damaging	1.00
R5852:Mia3	UTSW	1	183332859	missense	probably benign	0.01
R6246:Mia3	UTSW	1	183345277	missense	probably damaging	0.99
R6565:Mia3	UTSW	1	183331485	missense	probably damaging	1.00
R7378:Mia3	UTSW	1	183334775	missense	probably benign	0.01
R7417:Mia3	UTSW	1	183327653	missense
R7442:Mia3	UTSW	1	183358876	missense	probably benign	0.03
R7552:Mia3	UTSW	1	183365695	nonsense	probably null
R7959:Mia3	UTSW	1	183344339	missense	probably damaging	1.00
R8147:Mia3	UTSW	1	183328207	missense
R9775:Mia3	UTSW	1	183328270	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCATGGAAATACGTGTTC -3'
(R):5'- AGGTGTTCTGCCTGGGAAAC -3'

Sequencing Primer
(F):5'- CGTGTTCTTAAAGCATTTCCACAGG -3'
(R):5'- GATCCTCGGGAATTTTTACCAGGAC -3'

Posted On

2019-09-13