Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Mia3'

427377

Institutional Source

Beutler Lab

Gene Symbol

Mia3

Ensembl Gene

ENSMUSG00000056050

Gene Name

MIA SH3 domain ER export factor 3

Synonyms

LOC385255, Tango, A930039G15Rik, 9130229H14Rik, B230399H06Rik

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

183107682-183150894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 183117471 bp (GRCm39)

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
Abcg5	A	T	17: 84,978,557 (GRCm39)	D300E	probably damaging	Het
Apbb1ip	T	C	2: 22,725,960 (GRCm39)	V244A	possibly damaging	Het
Arhgap32	T	C	9: 32,159,678 (GRCm39)	S232P	probably benign	Het
Atf7ip	G	A	6: 136,564,255 (GRCm39)	V833M	probably damaging	Het
Casp7	A	G	19: 56,421,770 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,590,067 (GRCm39)	D259G	probably damaging	Het
Celsr2	T	A	3: 108,299,974 (GRCm39)	E2911D	probably benign	Het
Cep350	T	C	1: 155,770,469 (GRCm39)	D1807G	probably benign	Het
Cfap251	C	T	5: 123,425,240 (GRCm39)	T294M	probably damaging	Het
Chrd	A	G	16: 20,557,660 (GRCm39)	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,733,014 (GRCm39)	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,865,727 (GRCm39)	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,192,958 (GRCm39)	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,709,761 (GRCm39)	R1812*	probably null	Het
Dsc2	T	C	18: 20,168,360 (GRCm39)	I700V	possibly damaging	Het
Flt3	G	A	5: 147,291,905 (GRCm39)	Q540*	probably null	Het
Fmo4	T	A	1: 162,632,842 (GRCm39)	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,207,910 (GRCm39)	D72V	possibly damaging	Het
Garin2	G	A	12: 78,761,890 (GRCm39)	E185K	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm2381	T	G	7: 42,469,425 (GRCm39)	H233P	probably damaging	Het
Gm5148	T	A	3: 37,768,995 (GRCm39)	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,482,170 (GRCm39)	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,186,825 (GRCm39)	S318P	probably benign	Het
Hectd4	G	A	5: 121,404,337 (GRCm39)	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738 (GRCm39)	R41G	probably benign	Het
Hhipl1	T	A	12: 108,294,467 (GRCm39)	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,194,038 (GRCm39)	K290T	probably benign	Het
Ifi207	T	C	1: 173,555,363 (GRCm39)	E773G	probably damaging	Het
Kcnh6	T	C	11: 105,914,685 (GRCm39)	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,846,234 (GRCm39)	T313A	probably benign	Het
Lrba	G	T	3: 86,275,902 (GRCm39)	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,600,306 (GRCm39)	T278A	probably benign	Het
Ltbp2	T	C	12: 84,856,428 (GRCm39)	I679V	probably null	Het
Mapk4	G	T	18: 74,064,073 (GRCm39)	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Myo15a	C	A	11: 60,411,603 (GRCm39)	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,108,701 (GRCm39)	Q267K	probably benign	Het
Nphp3	A	G	9: 103,881,922 (GRCm39)	K37E	probably damaging	Het
Nwd2	T	C	5: 63,962,681 (GRCm39)	M755T	probably damaging	Het
Or10u4	T	A	10: 129,802,158 (GRCm39)	H137L	probably benign	Het
Or52ac1	A	G	7: 104,246,028 (GRCm39)	F120S	probably damaging	Het
Or5p58	A	G	7: 107,693,949 (GRCm39)	V276A	possibly damaging	Het
Pdlim5	C	T	3: 142,058,495 (GRCm39)	R83K	probably null	Het
Plekha5	A	T	6: 140,498,459 (GRCm39)	R173*	probably null	Het
Pramel25	T	A	4: 143,521,707 (GRCm39)	V441E	possibly damaging	Het
Rbms3	T	A	9: 117,080,853 (GRCm39)	D6V	possibly damaging	Het
Rhoq	A	T	17: 87,271,755 (GRCm39)	Y57F	probably benign	Het
Rrm1	A	T	7: 102,100,230 (GRCm39)	T204S	possibly damaging	Het
Slf1	A	T	13: 77,239,323 (GRCm39)	I447N	probably benign	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Spdye4c	C	T	2: 128,438,484 (GRCm39)	Q281*	probably null	Het
Tert	T	A	13: 73,792,403 (GRCm39)	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905 (GRCm39)	R1198L	probably benign	Het
Tmco4	A	G	4: 138,748,178 (GRCm39)	M253V	probably damaging	Het
Usp19	G	T	9: 108,375,119 (GRCm39)	V782F	possibly damaging	Het
Usp33	T	A	3: 152,080,260 (GRCm39)	S464T	probably damaging	Het
Usp47	A	T	7: 111,673,928 (GRCm39)	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,136,466 (GRCm39)	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,954,386 (GRCm39)	H850L	probably benign	Het
Zfhx3	A	T	8: 109,682,842 (GRCm39)	Q3427L	unknown	Het
Zfp236	G	T	18: 82,700,281 (GRCm39)	Q63K	probably benign	Het
Zfp7	T	A	15: 76,775,054 (GRCm39)	C365*	probably null	Het
Zfp786	T	C	6: 47,796,619 (GRCm39)	E773G	probably damaging	Het

Other mutations in Mia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1037:Mia3	UTSW	1	183,138,698 (GRCm39)	missense	probably benign	0.06
R1489:Mia3	UTSW	1	183,120,121 (GRCm39)	missense	probably benign
R1997:Mia3	UTSW	1	183,125,707 (GRCm39)	missense	possibly damaging	0.72
R2261:Mia3	UTSW	1	183,115,647 (GRCm39)	missense	probably benign	0.00
R2263:Mia3	UTSW	1	183,115,647 (GRCm39)	missense	probably benign	0.00
R2334:Mia3	UTSW	1	183,115,256 (GRCm39)	critical splice donor site	probably null
R3417:Mia3	UTSW	1	183,143,444 (GRCm39)	missense	probably damaging	1.00
R3872:Mia3	UTSW	1	183,138,342 (GRCm39)	missense	probably benign	0.04
R3943:Mia3	UTSW	1	183,140,127 (GRCm39)	missense	possibly damaging	0.54
R4398:Mia3	UTSW	1	183,111,733 (GRCm39)	missense	probably damaging	1.00
R4746:Mia3	UTSW	1	183,126,663 (GRCm39)	missense	possibly damaging	0.80
R4814:Mia3	UTSW	1	183,113,684 (GRCm39)	missense	probably damaging	0.98
R4975:Mia3	UTSW	1	183,111,970 (GRCm39)	missense	probably benign	0.02
R5104:Mia3	UTSW	1	183,119,579 (GRCm39)	missense	probably damaging	0.98
R5174:Mia3	UTSW	1	183,112,348 (GRCm39)	nonsense	probably null
R5272:Mia3	UTSW	1	183,109,125 (GRCm39)	nonsense	probably null
R5651:Mia3	UTSW	1	183,139,998 (GRCm39)	missense	probably damaging	1.00
R5852:Mia3	UTSW	1	183,113,713 (GRCm39)	missense	probably benign	0.01
R6246:Mia3	UTSW	1	183,126,720 (GRCm39)	missense	probably damaging	0.99
R6565:Mia3	UTSW	1	183,112,340 (GRCm39)	missense	probably damaging	1.00
R7353:Mia3	UTSW	1	183,108,247 (GRCm39)	missense
R7378:Mia3	UTSW	1	183,115,629 (GRCm39)	missense	probably benign	0.01
R7417:Mia3	UTSW	1	183,108,508 (GRCm39)	missense
R7442:Mia3	UTSW	1	183,140,220 (GRCm39)	missense	probably benign	0.03
R7552:Mia3	UTSW	1	183,147,036 (GRCm39)	nonsense	probably null
R7959:Mia3	UTSW	1	183,125,760 (GRCm39)	missense	probably damaging	1.00
R8147:Mia3	UTSW	1	183,109,062 (GRCm39)	missense
R9775:Mia3	UTSW	1	183,109,125 (GRCm39)	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