Incidental Mutation 'R4398:Mia3'
ID 325573
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 041130-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183107682-183150894 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 183111733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 556 (S556P)
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: S237P
SMART Domains Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: S237P

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 damaging
Transcript: ENSMUST00000109158
AA Change: S556P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: S556P

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 0.2189 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign 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
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'- ACAGTGACCCATTTCTCTATGAGG -3'
(R):5'- CACATGGCAGCAGGATTCTG -3'

Sequencing Primer
(F):5'- GACCCATTTCTCTATGAGGATTGAC -3'
(R):5'- GCAGGATTCTGGTGTGGAATG -3'
Posted On 2015-07-06