Mutagenetix > Incidental Mutation

Incidental Mutation 'R1037:Mia3'

93835

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

039136-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1037 (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 183138698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 672 (I672M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194543]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069922
AA Change: I672M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: I672M

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: ENSMUST00000194543

SMART Domains

Protein: ENSMUSP00000141268
Gene: ENSMUSG00000056050

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SH3	48	106	1.7e-4	SMART
low complexity region	138	147	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.1%
10x: 94.3%
20x: 85.9%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Abca2	T	A	2: 25,328,240 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,875,657 (GRCm39)	N610I	probably benign	Het
Ahnak	T	C	19: 8,984,982 (GRCm39)	F2089L	probably benign	Het
Cacnb1	T	C	11: 97,895,843 (GRCm39)		probably benign	Het
Cep57	T	C	9: 13,730,275 (GRCm39)	I61V	possibly damaging	Het
Ckap5	T	C	2: 91,380,974 (GRCm39)	I110T	probably benign	Het
Clasp2	T	C	9: 113,725,702 (GRCm39)		probably benign	Het
Col11a1	A	C	3: 113,987,801 (GRCm39)	E265A	probably damaging	Het
Cst13	A	G	2: 148,672,251 (GRCm39)		probably benign	Het
Cyp24a1	G	A	2: 170,333,537 (GRCm39)	T272M	probably damaging	Het
Cyp4a14	A	C	4: 115,347,193 (GRCm39)	L415R	probably damaging	Het
Dbnl	T	C	11: 5,746,807 (GRCm39)	F179S	probably damaging	Het
Eepd1	T	C	9: 25,498,079 (GRCm39)	L388P	possibly damaging	Het
Exosc8	G	T	3: 54,640,159 (GRCm39)	A55E	probably damaging	Het
Fam72a	G	A	1: 131,461,557 (GRCm39)	V81I	probably damaging	Het
Fasn	C	T	11: 120,700,277 (GRCm39)	M2182I	probably benign	Het
Fras1	C	T	5: 96,862,322 (GRCm39)	P2234S	probably damaging	Het
Grn	C	A	11: 102,323,896 (GRCm39)	D33E	possibly damaging	Het
Gsap	A	G	5: 21,456,163 (GRCm39)		probably benign	Het
H2bc15	T	A	13: 21,938,417 (GRCm39)	V42E	probably damaging	Het
Hook3	T	C	8: 26,562,378 (GRCm39)	Q229R	possibly damaging	Het
Itgb6	T	C	2: 60,480,412 (GRCm39)	E308G	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,330 (GRCm39)	M319V	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlc1	A	G	15: 88,849,664 (GRCm39)	L223P	probably damaging	Het
Mmp21	T	C	7: 133,276,182 (GRCm39)	K554E	probably benign	Het
Nup160	C	T	2: 90,524,246 (GRCm39)	T383I	probably damaging	Het
Opcml	T	A	9: 28,814,595 (GRCm39)	D290E	probably damaging	Het
Or10a3b	T	A	7: 108,445,191 (GRCm39)	T9S	probably benign	Het
Or4a27	T	A	2: 88,559,376 (GRCm39)	D189V	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Or5d38	A	G	2: 87,954,573 (GRCm39)	I252T	probably damaging	Het
Or5k14	T	C	16: 58,693,333 (GRCm39)	Y60C	probably damaging	Het
Palm3	C	A	8: 84,755,901 (GRCm39)	T471K	probably benign	Het
Prl2c5	T	A	13: 13,360,492 (GRCm39)	L50*	probably null	Het
Pzp	T	C	6: 128,496,389 (GRCm39)	N281S	probably benign	Het
Qser1	T	C	2: 104,590,900 (GRCm39)	Y1722C	probably damaging	Het
Ryr3	A	G	2: 112,699,453 (GRCm39)	V879A	probably benign	Het
Sbno1	A	G	5: 124,531,975 (GRCm39)	S736P	possibly damaging	Het
Septin5	G	A	16: 18,441,844 (GRCm39)		probably benign	Het
Slc17a6	A	G	7: 51,298,996 (GRCm39)		probably benign	Het
Spag17	A	T	3: 100,010,433 (GRCm39)	T1976S	probably benign	Het
Swt1	A	T	1: 151,246,320 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,446,688 (GRCm39)	W853R	probably damaging	Het
Thbs1	A	T	2: 117,953,532 (GRCm39)	Q983L	probably damaging	Het
Tmem191	A	G	16: 17,094,347 (GRCm39)		probably benign	Het
Tmprss11g	A	T	5: 86,638,606 (GRCm39)	V294D	probably damaging	Het
Tor1aip2	A	G	1: 155,941,082 (GRCm39)	S463G	probably benign	Het
Trim36	A	G	18: 46,329,385 (GRCm39)		probably benign	Het
Ttc1	A	G	11: 43,621,326 (GRCm39)	V285A	possibly damaging	Het
Uckl1	C	T	2: 181,214,278 (GRCm39)	R303H	possibly damaging	Het
Vwa8	C	A	14: 79,324,094 (GRCm39)	C1132*	probably null	Het

Other mutations in Mia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- ACCACACTGTGACCTGACTCCTTG -3'
(R):5'- ACGGTTCCGTCAGTGGACCAAAAG -3'

Sequencing Primer
(F):5'- GAGAATTCATATCTGACCTCCCG -3'
(R):5'- TCCAGAGGAAACTGGTCCC -3'

Posted On

2014-01-05