Incidental Mutation 'R5156:Mia2'
ID 396744
Institutional Source Beutler Lab
Gene Symbol Mia2
Ensembl Gene ENSMUSG00000021000
Gene Name MIA SH3 domain ER export factor 2
Synonyms MEA6, Mgea, Mgea6, D12Bwg0579e, Ctage5
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 59142368-59237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59219323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 436 (T436A)
Ref Sequence ENSEMBL: ENSMUSP00000135618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069430] [ENSMUST00000170992] [ENSMUST00000175877] [ENSMUST00000175912] [ENSMUST00000176322] [ENSMUST00000176336] [ENSMUST00000176464] [ENSMUST00000176892] [ENSMUST00000177162] [ENSMUST00000177225] [ENSMUST00000219140] [ENSMUST00000176727] [ENSMUST00000176752]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069430
AA Change: T462A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000
AA Change: T462A

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 124 253 9e-6 SMART
SCOP:d1fxkc_ 314 437 3e-16 SMART
low complexity region 480 493 N/A INTRINSIC
low complexity region 533 556 N/A INTRINSIC
low complexity region 682 700 N/A INTRINSIC
low complexity region 707 717 N/A INTRINSIC
low complexity region 722 742 N/A INTRINSIC
low complexity region 751 775 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170992
AA Change: T440A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: T440A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 102 231 2e-6 SMART
SCOP:d1fxkc_ 292 415 2e-17 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
low complexity region 660 678 N/A INTRINSIC
low complexity region 685 695 N/A INTRINSIC
low complexity region 700 720 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175659
Predicted Effect unknown
Transcript: ENSMUST00000175837
AA Change: T114A
SMART Domains Protein: ENSMUSP00000134828
Gene: ENSMUSG00000021000
AA Change: T114A

DomainStartEndE-ValueType
SCOP:d1fxkc_ 3 90 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175877
AA Change: T412A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000
AA Change: T412A

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCOP:d1fxkc_ 74 203 1e-5 SMART
SCOP:d1fxkc_ 264 387 6e-16 SMART
low complexity region 430 443 N/A INTRINSIC
low complexity region 589 607 N/A INTRINSIC
low complexity region 614 624 N/A INTRINSIC
low complexity region 629 649 N/A INTRINSIC
low complexity region 658 682 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175912
AA Change: T453A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000
AA Change: T453A

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 115 244 8e-6 SMART
SCOP:d1fxkc_ 305 428 2e-16 SMART
low complexity region 471 484 N/A INTRINSIC
low complexity region 524 547 N/A INTRINSIC
low complexity region 673 691 N/A INTRINSIC
low complexity region 698 708 N/A INTRINSIC
low complexity region 713 733 N/A INTRINSIC
low complexity region 742 766 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177222
Predicted Effect probably benign
Transcript: ENSMUST00000176322
AA Change: T473A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: T473A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 135 264 4e-6 SMART
SCOP:d1fxkc_ 325 448 9e-17 SMART
low complexity region 491 504 N/A INTRINSIC
low complexity region 544 567 N/A INTRINSIC
low complexity region 693 711 N/A INTRINSIC
low complexity region 718 728 N/A INTRINSIC
low complexity region 733 753 N/A INTRINSIC
low complexity region 762 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176336
AA Change: T429A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000
AA Change: T429A

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
coiled coil region 55 235 N/A INTRINSIC
SCOP:d1fxkc_ 281 404 6e-8 SMART
low complexity region 447 460 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176464
AA Change: T464A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: T464A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 126 255 4e-6 SMART
SCOP:d1fxkc_ 316 439 8e-17 SMART
low complexity region 482 495 N/A INTRINSIC
low complexity region 535 558 N/A INTRINSIC
low complexity region 684 702 N/A INTRINSIC
low complexity region 709 719 N/A INTRINSIC
low complexity region 724 744 N/A INTRINSIC
low complexity region 753 777 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176892
AA Change: T429A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000
AA Change: T429A

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
SCOP:d1fxkc_ 91 220 4e-6 SMART
SCOP:d1fxkc_ 281 404 8e-17 SMART
low complexity region 447 460 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
low complexity region 649 667 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
low complexity region 689 709 N/A INTRINSIC
low complexity region 718 742 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177162
AA Change: T464A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: T464A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
SCOP:d1fxkc_ 126 255 2e-5 SMART
SCOP:d1fxkc_ 316 439 8e-16 SMART
low complexity region 482 495 N/A INTRINSIC
low complexity region 641 659 N/A INTRINSIC
low complexity region 666 676 N/A INTRINSIC
low complexity region 681 701 N/A INTRINSIC
low complexity region 710 734 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177225
AA Change: T436A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000
AA Change: T436A

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
SCOP:d1fxkc_ 98 227 3e-5 SMART
SCOP:d1fxkc_ 288 411 2e-15 SMART
low complexity region 454 467 N/A INTRINSIC
low complexity region 613 631 N/A INTRINSIC
low complexity region 638 648 N/A INTRINSIC
low complexity region 653 673 N/A INTRINSIC
low complexity region 682 706 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000176617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176223
Predicted Effect possibly damaging
Transcript: ENSMUST00000219140
AA Change: T1065A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000176727
SMART Domains Protein: ENSMUSP00000135694
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176752
SMART Domains Protein: ENSMUSP00000134972
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased serum levels of cholesterol, HDL cholesterol, triglyceride, and VLDL triglyceride. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Csf1 T A 3: 107,656,252 (GRCm39) T148S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T probably benign Het
Other mutations in Mia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Mia2 APN 12 59,207,059 (GRCm39) splice site probably benign
IGL00791:Mia2 APN 12 59,155,085 (GRCm39) missense possibly damaging 0.82
IGL00821:Mia2 APN 12 59,217,106 (GRCm39) critical splice donor site probably null
IGL00901:Mia2 APN 12 59,154,815 (GRCm39) missense probably damaging 1.00
IGL00985:Mia2 APN 12 59,235,146 (GRCm39) missense probably damaging 1.00
IGL01304:Mia2 APN 12 59,151,324 (GRCm39) missense probably damaging 1.00
IGL01909:Mia2 APN 12 59,154,731 (GRCm39) missense possibly damaging 0.94
IGL02646:Mia2 APN 12 59,155,622 (GRCm39) missense probably damaging 1.00
IGL02800:Mia2 APN 12 59,235,277 (GRCm39) nonsense probably null
IGL03332:Mia2 APN 12 59,155,184 (GRCm39) missense probably damaging 0.97
PIT4812001:Mia2 UTSW 12 59,148,365 (GRCm39) missense possibly damaging 0.92
R0242:Mia2 UTSW 12 59,155,642 (GRCm39) missense probably damaging 1.00
R0242:Mia2 UTSW 12 59,155,642 (GRCm39) missense probably damaging 1.00
R0449:Mia2 UTSW 12 59,219,380 (GRCm39) critical splice donor site probably null
R0620:Mia2 UTSW 12 59,201,205 (GRCm39) missense possibly damaging 0.96
R0622:Mia2 UTSW 12 59,178,364 (GRCm39) missense probably damaging 0.98
R0632:Mia2 UTSW 12 59,182,929 (GRCm39) missense probably damaging 0.99
R1643:Mia2 UTSW 12 59,226,631 (GRCm39) splice site probably null
R1654:Mia2 UTSW 12 59,155,619 (GRCm39) missense possibly damaging 0.92
R1706:Mia2 UTSW 12 59,191,552 (GRCm39) nonsense probably null
R1776:Mia2 UTSW 12 59,196,361 (GRCm39) splice site probably benign
R1848:Mia2 UTSW 12 59,217,037 (GRCm39) splice site probably benign
R2240:Mia2 UTSW 12 59,154,668 (GRCm39) missense probably benign 0.01
R2698:Mia2 UTSW 12 59,217,780 (GRCm39) critical splice donor site probably null
R2860:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R2861:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R2862:Mia2 UTSW 12 59,201,196 (GRCm39) missense probably damaging 0.98
R3429:Mia2 UTSW 12 59,236,427 (GRCm39) missense possibly damaging 0.89
R3861:Mia2 UTSW 12 59,155,807 (GRCm39) missense probably benign 0.00
R3965:Mia2 UTSW 12 59,223,158 (GRCm39) missense probably damaging 1.00
R5249:Mia2 UTSW 12 59,154,911 (GRCm39) missense probably damaging 0.99
R5330:Mia2 UTSW 12 59,142,598 (GRCm39) missense probably benign 0.01
R5331:Mia2 UTSW 12 59,142,598 (GRCm39) missense probably benign 0.01
R5815:Mia2 UTSW 12 59,220,892 (GRCm39) missense possibly damaging 0.95
R5972:Mia2 UTSW 12 59,193,723 (GRCm39) missense probably damaging 1.00
R6651:Mia2 UTSW 12 59,201,148 (GRCm39) missense possibly damaging 0.78
R6676:Mia2 UTSW 12 59,155,156 (GRCm39) missense probably damaging 0.97
R6695:Mia2 UTSW 12 59,219,366 (GRCm39) missense probably damaging 0.99
R6800:Mia2 UTSW 12 59,235,332 (GRCm39) critical splice donor site probably null
R6845:Mia2 UTSW 12 59,231,064 (GRCm39) nonsense probably null
R6919:Mia2 UTSW 12 59,176,681 (GRCm39) missense possibly damaging 0.74
R7058:Mia2 UTSW 12 59,231,021 (GRCm39) missense possibly damaging 0.77
R7209:Mia2 UTSW 12 59,201,176 (GRCm39) missense possibly damaging 0.55
R7274:Mia2 UTSW 12 59,154,905 (GRCm39) missense probably damaging 0.99
R7291:Mia2 UTSW 12 59,205,155 (GRCm39) critical splice donor site probably null
R7874:Mia2 UTSW 12 59,155,374 (GRCm39) missense probably damaging 0.99
R7894:Mia2 UTSW 12 59,236,433 (GRCm39) missense probably damaging 1.00
R7961:Mia2 UTSW 12 59,206,425 (GRCm39) critical splice donor site probably null
R7980:Mia2 UTSW 12 59,155,651 (GRCm39) missense probably damaging 0.98
R8110:Mia2 UTSW 12 59,155,873 (GRCm39) splice site probably null
R8557:Mia2 UTSW 12 59,148,274 (GRCm39) missense probably damaging 0.97
R9031:Mia2 UTSW 12 59,155,586 (GRCm39) missense probably damaging 1.00
R9077:Mia2 UTSW 12 59,226,760 (GRCm39) missense possibly damaging 0.94
R9113:Mia2 UTSW 12 59,217,053 (GRCm39) utr 3 prime probably benign
R9214:Mia2 UTSW 12 59,223,150 (GRCm39) missense possibly damaging 0.92
R9433:Mia2 UTSW 12 59,148,371 (GRCm39) missense probably damaging 1.00
X0063:Mia2 UTSW 12 59,182,925 (GRCm39) missense probably damaging 0.99
Z1176:Mia2 UTSW 12 59,155,587 (GRCm39) missense probably damaging 1.00
Z1176:Mia2 UTSW 12 59,154,910 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- ACTGGCATGAAACTCATTCCTC -3'
(R):5'- AAAGTGCCACTGTAGTAGCC -3'

Sequencing Primer
(F):5'- GGCATGAAACTCATTCCTCTATTG -3'
(R):5'- GAGATTCTGTGGGAACTACAA -3'
Posted On 2016-06-21