Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Mia3'

382546

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

042570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

183107682-183150894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 183111970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 529 (N529S)

Ref Sequence

ENSEMBL: ENSMUSP00000104786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000069922
AA Change: N210S

SMART Domains

Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: N210S

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: N529S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: N529S

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: ENSMUST00000195233

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Ccni	A	T	5: 93,335,553 (GRCm39)	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4c117	T	C	2: 88,955,682 (GRCm39)	Y131C	probably damaging	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Setx	A	G	2: 29,054,562 (GRCm39)	E2158G	probably damaging	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Stk39	A	T	2: 68,051,336 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,775,636 (GRCm39)	V50A	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	probably null	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
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
R5445:Mia3	UTSW	1	183,117,471 (GRCm39)	missense	probably benign	0.06
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'- ATTCTGGCTCAGCAGACCTG -3'
(R):5'- CTGCTAACTTAAGGCACAAGTACGG -3'

Sequencing Primer
(F):5'- CTGAAGACAGCAATGCCTGGTTAC -3'
(R):5'- CTTAAGGCACAAGTACGGAATTTTG -3'

Posted On

2016-04-27