Incidental Mutation 'R0622:Mia2'
ID 261977
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 038811-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R0622 (G1)
Quality Score 125
Status Not validated
Chromosome 12
Chromosomal Location 59142368-59237006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59178364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 12 (R12W)
Ref Sequence ENSEMBL: ENSMUSP00000135001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069430] [ENSMUST00000170992] [ENSMUST00000175877] [ENSMUST00000175912] [ENSMUST00000176322] [ENSMUST00000177162] [ENSMUST00000176464] [ENSMUST00000176752] [ENSMUST00000177225] [ENSMUST00000176892] [ENSMUST00000177460] [ENSMUST00000177370] [ENSMUST00000219140] [ENSMUST00000176336] [ENSMUST00000176727]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069430
SMART Domains Protein: ENSMUSP00000070572
Gene: ENSMUSG00000021000

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 noncoding transcript
Transcript: ENSMUST00000104317
Predicted Effect probably damaging
Transcript: ENSMUST00000170992
AA Change: R12W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126538
Gene: ENSMUSG00000021000
AA Change: R12W

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: ENSMUST00000175803
Predicted Effect probably benign
Transcript: ENSMUST00000175877
SMART Domains Protein: ENSMUSP00000135440
Gene: ENSMUSG00000021000

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 probably benign
Transcript: ENSMUST00000175912
SMART Domains Protein: ENSMUSP00000135251
Gene: ENSMUSG00000021000

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 probably damaging
Transcript: ENSMUST00000176322
AA Change: R12W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135100
Gene: ENSMUSG00000021000
AA Change: R12W

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 damaging
Transcript: ENSMUST00000177162
AA Change: R12W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135001
Gene: ENSMUSG00000021000
AA Change: R12W

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 probably damaging
Transcript: ENSMUST00000176464
AA Change: R12W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135390
Gene: ENSMUSG00000021000
AA Change: R12W

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: ENSMUST00000176752
SMART Domains Protein: ENSMUSP00000134972
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177225
SMART Domains Protein: ENSMUSP00000135618
Gene: ENSMUSG00000021000

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 probably benign
Transcript: ENSMUST00000176892
SMART Domains Protein: ENSMUSP00000135245
Gene: ENSMUSG00000021000

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 probably benign
Transcript: ENSMUST00000177460
SMART Domains Protein: ENSMUSP00000134887
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
coiled coil region 84 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177370
SMART Domains Protein: ENSMUSP00000135179
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
coiled coil region 95 167 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000219140
Predicted Effect probably benign
Transcript: ENSMUST00000176336
SMART Domains Protein: ENSMUSP00000134872
Gene: ENSMUSG00000021000

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 probably benign
Transcript: ENSMUST00000176727
SMART Domains Protein: ENSMUSP00000135694
Gene: ENSMUSG00000021000

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T A 13: 30,565,664 (GRCm39) M243K probably benign Het
Ap1b1 A G 11: 4,987,707 (GRCm39) M744V probably damaging Het
Ccdc152 T C 15: 3,327,660 (GRCm39) N39S probably damaging Het
Cd163 G A 6: 124,294,311 (GRCm39) V490M probably damaging Het
Col6a5 G T 9: 105,803,051 (GRCm39) H1305N unknown Het
Cpb1 C A 3: 20,303,982 (GRCm39) D361Y probably damaging Het
Dchs1 T A 7: 105,412,656 (GRCm39) Y1248F probably damaging Het
Dhdds G C 4: 133,721,547 (GRCm39) F83L probably damaging Het
Dsg4 T A 18: 20,582,845 (GRCm39) V161E possibly damaging Het
Exosc4 A G 15: 76,211,736 (GRCm39) D15G probably damaging Het
F3 A T 3: 121,518,668 (GRCm39) D44V probably damaging Het
Fat2 A T 11: 55,173,954 (GRCm39) F2253Y probably damaging Het
Fbn1 T C 2: 125,220,944 (GRCm39) D650G possibly damaging Het
Gramd4 T A 15: 85,975,590 (GRCm39) F36I probably damaging Het
Grm7 G A 6: 111,335,457 (GRCm39) A623T probably damaging Het
Gys1 A T 7: 45,089,419 (GRCm39) T193S probably damaging Het
Hectd4 A G 5: 121,486,688 (GRCm39) T3228A possibly damaging Het
Itpk1 G T 12: 102,540,239 (GRCm39) D281E probably damaging Het
Kcnh7 A C 2: 62,667,633 (GRCm39) probably null Het
Klhl29 A G 12: 5,131,224 (GRCm39) L852P probably damaging Het
Lrch1 T C 14: 75,033,491 (GRCm39) Y509C probably benign Het
Lrp1b A G 2: 41,618,563 (GRCm39) probably null Het
Mcpt4 C A 14: 56,298,119 (GRCm39) R144L probably benign Het
Mrps5 A G 2: 127,436,451 (GRCm39) K116R probably benign Het
Myrf G A 19: 10,200,816 (GRCm39) P286S probably damaging Het
Nanp A G 2: 150,881,164 (GRCm39) M28T probably benign Het
Neb T C 2: 52,102,963 (GRCm39) I4472V probably benign Het
Nfix A C 8: 85,453,111 (GRCm39) N314K probably damaging Het
Nlrc3 C T 16: 3,771,832 (GRCm39) R849Q probably benign Het
Nup210l G A 3: 90,075,047 (GRCm39) V786M probably damaging Het
Or2t44 T C 11: 58,677,167 (GRCm39) S36P probably damaging Het
Or52ad1 A G 7: 102,996,064 (GRCm39) S24P probably damaging Het
Or6z5 T C 7: 6,477,598 (GRCm39) I163T possibly damaging Het
Or8c20 A G 9: 38,260,667 (GRCm39) N96S possibly damaging Het
Pdia4 A T 6: 47,783,452 (GRCm39) F197Y probably damaging Het
Phldb1 T C 9: 44,627,149 (GRCm39) D432G probably damaging Het
Pik3ca A G 3: 32,490,701 (GRCm39) E116G probably damaging Het
Polq T C 16: 36,881,355 (GRCm39) V1173A probably benign Het
Pou2f3 C T 9: 43,036,414 (GRCm39) R423H probably damaging Het
Pramel29 T C 4: 143,939,583 (GRCm39) probably benign Het
Prkag2 T C 5: 25,074,247 (GRCm39) N246S probably damaging Het
Proser1 A G 3: 53,385,281 (GRCm39) S388G probably benign Het
Ralgps1 G A 2: 33,064,459 (GRCm39) R238* probably null Het
Rfx2 T C 17: 57,084,071 (GRCm39) D657G probably damaging Het
Ryr3 A G 2: 112,492,900 (GRCm39) F3724S probably damaging Het
Sh2d5 T C 4: 137,986,539 (GRCm39) S421P probably damaging Het
Slc34a1 C A 13: 23,996,594 (GRCm39) T33K probably damaging Het
St8sia5 A G 18: 77,333,809 (GRCm39) T156A probably damaging Het
Stk32c T C 7: 138,768,026 (GRCm39) D85G probably benign Het
Tnks A G 8: 35,407,976 (GRCm39) S251P probably damaging Het
Tnxb T A 17: 34,937,703 (GRCm39) L3864Q probably damaging Het
Trim9 A G 12: 70,393,378 (GRCm39) Y189H probably damaging Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Wasf3 A G 5: 146,403,602 (GRCm39) probably null Het
Wdr90 C T 17: 26,074,632 (GRCm39) C603Y probably damaging Het
Zdhhc25 T C 15: 88,485,310 (GRCm39) L215P probably damaging Het
Zeb1 C T 18: 5,759,123 (GRCm39) Q140* probably null Het
Zfp677 C T 17: 21,617,962 (GRCm39) L340F 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
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
R5156:Mia2 UTSW 12 59,219,323 (GRCm39) missense possibly damaging 0.94
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
Posted On 2015-02-04