Incidental Mutation 'R5174:Mia3'
ID 398964
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 042754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5174 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183107682-183150894 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 183112348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 475 (K475*)
Ref Sequence ENSEMBL: ENSMUSP00000104786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109158]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000069922
AA Change: K156*
SMART Domains Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: K156*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000109158
AA Change: K475*
SMART Domains Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: K475*

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,728,209 (GRCm39) S632P probably damaging Het
Arhgef16 G A 4: 154,366,504 (GRCm39) R451W probably damaging Het
Asxl3 A T 18: 22,656,172 (GRCm39) D1394V probably benign Het
Atp2a3 T A 11: 72,871,041 (GRCm39) I545N probably damaging Het
Cadps2 T A 6: 23,287,742 (GRCm39) Y1181F probably damaging Het
Camkmt C A 17: 85,759,665 (GRCm39) F268L probably benign Het
Casp14 C T 10: 78,551,225 (GRCm39) G20D possibly damaging Het
Celf1 T C 2: 90,831,353 (GRCm39) C61R probably damaging Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Cers3 A T 7: 66,434,616 (GRCm39) K203M probably damaging Het
Clip4 T C 17: 72,117,957 (GRCm39) F334S probably damaging Het
Cyp2b13 T A 7: 25,788,118 (GRCm39) D415E possibly damaging Het
Decr2 A T 17: 26,306,443 (GRCm39) probably null Het
Dmxl2 T C 9: 54,352,768 (GRCm39) probably null Het
Dnah7b G A 1: 46,282,509 (GRCm39) A2881T possibly damaging Het
Dnaja3 A G 16: 4,502,161 (GRCm39) H55R probably benign Het
Dnajc11 T C 4: 152,064,441 (GRCm39) F531L probably damaging Het
Efcab6 A G 15: 83,938,687 (GRCm39) F10L probably benign Het
Epm2aip1 T C 9: 111,102,455 (GRCm39) F476S probably damaging Het
Fat3 T C 9: 15,910,866 (GRCm39) N1712S probably damaging Het
Flnc T C 6: 29,448,893 (GRCm39) V1343A possibly damaging Het
Fsip2 C T 2: 82,811,085 (GRCm39) P2468L probably benign Het
Gm5798 A G 14: 41,070,620 (GRCm39) H10R possibly damaging Het
Gm7168 A G 17: 14,168,717 (GRCm39) Y28C probably damaging Het
Gtpbp6 G A 5: 110,255,983 (GRCm39) R19C possibly damaging Het
Gucy2e A G 11: 69,127,392 (GRCm39) F27S probably benign Het
Inhca C T 9: 103,159,755 (GRCm39) probably null Het
Krba1 A G 6: 48,389,229 (GRCm39) E548G probably damaging Het
Ltbr A G 6: 125,286,500 (GRCm39) S229P probably benign Het
Mgat5b A T 11: 116,868,541 (GRCm39) Y488F probably benign Het
Mrpl53 C T 6: 83,086,638 (GRCm39) T114M possibly damaging Het
Mrps35 T C 6: 146,961,709 (GRCm39) Y195H possibly damaging Het
Muc4 A T 16: 32,570,556 (GRCm39) I539F possibly damaging Het
Nedd1 T A 10: 92,547,074 (GRCm39) T150S possibly damaging Het
Nox4 T G 7: 86,972,974 (GRCm39) I327S probably benign Het
Nrk C G X: 137,887,528 (GRCm39) A1018G probably benign Het
Or4c102 T A 2: 88,422,992 (GRCm39) N281K probably damaging Het
Or4d5 T C 9: 40,012,043 (GRCm39) T248A possibly damaging Het
Or52ae7 T A 7: 103,119,610 (GRCm39) F121L probably benign Het
Or5w19 T A 2: 87,698,755 (GRCm39) V140E possibly damaging Het
Pdzd2 G A 15: 12,372,600 (GRCm39) P2512S probably benign Het
Ptgis T A 2: 167,045,390 (GRCm39) probably null Het
Rnf170 T A 8: 26,619,196 (GRCm39) M140K probably benign Het
Scaf4 A T 16: 90,044,062 (GRCm39) I637K unknown Het
Sdccag8 A T 1: 176,672,916 (GRCm39) T270S probably damaging Het
Sec24d T C 3: 123,158,575 (GRCm39) C1022R probably damaging Het
Sec63 T C 10: 42,705,077 (GRCm39) probably benign Het
Serpinb3d C G 1: 107,006,228 (GRCm39) E287Q possibly damaging Het
Silc1 A T 12: 27,192,027 (GRCm39) noncoding transcript Het
Smarcd2 A G 11: 106,157,871 (GRCm39) probably benign Het
Sox15 A G 11: 69,546,545 (GRCm39) Y116C probably damaging Het
Spag16 T C 1: 70,532,955 (GRCm39) S545P probably damaging Het
Ssc5d C A 7: 4,930,970 (GRCm39) T184N possibly damaging Het
St6galnac2 A T 11: 116,572,773 (GRCm39) F228I probably damaging Het
Syne1 T C 10: 4,991,490 (GRCm39) N8408S probably damaging Het
Trank1 A C 9: 111,194,627 (GRCm39) T884P probably benign Het
Ubr3 T A 2: 69,839,506 (GRCm39) L1540H probably damaging Het
Ugt2b37 C A 5: 87,399,739 (GRCm39) M256I probably benign Het
Vmn2r69 G A 7: 85,064,739 (GRCm39) T49I possibly damaging Het
Vmn2r72 T A 7: 85,387,048 (GRCm39) I839L probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Zfp319 A T 8: 96,054,797 (GRCm39) probably null Het
Zfp592 T C 7: 80,688,073 (GRCm39) S1000P probably damaging Het
Zfp938 T C 10: 82,061,838 (GRCm39) N261D possibly damaging Het
Zfp957 A G 14: 79,450,828 (GRCm39) S324P unknown Het
Zswim6 G T 13: 107,863,216 (GRCm39) noncoding transcript Het
Other mutations in Mia3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTACTTGTGCCTTAAGTTAGCAG -3'
(R):5'- TCTTAGGCGGCGAATCGAAG -3'

Sequencing Primer
(F):5'- GTGCCTTAAGTTAGCAGCTTCTC -3'
(R):5'- CTTAGGCGGCGAATCGAAGAAATG -3'
Posted On 2016-07-06