Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Mia3'

427377

Institutional Source

Beutler Lab

Gene Symbol

Mia3

Ensembl Gene

ENSMUSG00000056050

Gene Name

melanoma inhibitory activity 3

Synonyms

9130229H14Rik, B230399H06Rik, LOC385255, A930039G15Rik, Tango

MMRRC Submission

043010-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

183326725-183369553 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 183336022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

Ref Sequence

ENSEMBL: ENSMUSP00000104786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069922

SMART Domains

Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050

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 benign
Transcript: ENSMUST00000109158
AA Change: V208A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: V208A

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

unknown
Transcript: ENSMUST00000195233
AA Change: V115A

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,759,586	D259G	probably damaging	Het
Abcg5	A	T	17: 84,671,129	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,835,948	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,248,382	S232P	probably benign	Het
Atf7ip	G	A	6: 136,587,257	V833M	probably damaging	Het
Casp7	A	G	19: 56,433,338		probably null	Het
Celsr2	T	A	3: 108,392,658	E2911D	probably benign	Het
Cep350	T	C	1: 155,894,723	D1807G	probably benign	Het
Chrd	A	G	16: 20,738,910	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,903,946	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,877,288	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,295,077	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,782,039	R1812*	probably null	Het
Dsc2	T	C	18: 20,035,303	I700V	possibly damaging	Het
Fam71d	G	A	12: 78,715,116	E185K	probably damaging	Het
Flt3	G	A	5: 147,355,095	Q540*	probably null	Het
Fmo4	T	A	1: 162,805,273	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,219,462	D72V	possibly damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm13023	T	A	4: 143,795,137	V441E	possibly damaging	Het
Gm2381	T	G	7: 42,820,001	H233P	probably damaging	Het
Gm5148	T	A	3: 37,714,846	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,504,806	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,102,368	S318P	probably benign	Het
Hectd4	G	A	5: 121,266,274	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738	R41G	probably benign	Het
Hhipl1	T	A	12: 108,328,208	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,266,316	K290T	probably benign	Het
Ifi207	T	C	1: 173,727,797	E773G	probably damaging	Het
Kcnh6	T	C	11: 106,023,859	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,807,153	T313A	probably benign	Het
Lrba	G	T	3: 86,368,595	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,716,106	T278A	probably benign	Het
Ltbp2	T	C	12: 84,809,654	I679V	probably null	Het
Mapk4	G	T	18: 73,931,002	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Myo15	C	A	11: 60,520,777	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,217,875	Q267K	probably benign	Het
Nphp3	A	G	9: 104,004,723	K37E	probably damaging	Het
Nwd2	T	C	5: 63,805,338	M755T	probably damaging	Het
Olfr482	A	G	7: 108,094,742	V276A	possibly damaging	Het
Olfr655	A	G	7: 104,596,821	F120S	probably damaging	Het
Olfr819	T	A	10: 129,966,289	H137L	probably benign	Het
Pdlim5	C	T	3: 142,352,734	R83K	probably null	Het
Plekha5	A	T	6: 140,552,733	R173*	probably null	Het
Rbms3	T	A	9: 117,251,785	D6V	possibly damaging	Het
Rhoq	A	T	17: 86,964,327	Y57F	probably benign	Het
Rrm1	A	T	7: 102,451,023	T204S	possibly damaging	Het
Slf1	A	T	13: 77,091,204	I447N	probably benign	Het
Smarcc2	T	A	10: 128,488,074		probably benign	Het
Spdye4c	C	T	2: 128,596,564	Q281*	probably null	Het
Tert	T	A	13: 73,644,284	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905	R1198L	probably benign	Het
Tmco4	A	G	4: 139,020,867	M253V	probably damaging	Het
Usp19	G	T	9: 108,497,920	V782F	possibly damaging	Het
Usp33	T	A	3: 152,374,623	S464T	probably damaging	Het
Usp47	A	T	7: 112,074,721	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,159,481	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,734,124	H850L	probably benign	Het
Wdr66	C	T	5: 123,287,177	T294M	probably damaging	Het
Zfhx3	A	T	8: 108,956,210	Q3427L	unknown	Het
Zfp236	G	T	18: 82,682,156	Q63K	probably benign	Het
Zfp7	T	A	15: 76,890,854	C365*	probably null	Het
Zfp786	T	C	6: 47,819,685	E773G	probably damaging	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
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
R7353:Mia3	UTSW	1	183327392	missense
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'- AAGCATAGTTCGCTCTTCCC -3'
(R):5'- CTGGTTGAGCAAAAGTTTGAGG -3'

Sequencing Primer
(F):5'- ATAGTTCGCTCTTCCCAGCAC -3'
(R):5'- ACCTGCATGATGTTTGGT -3'

Posted On

2016-09-01