Incidental Mutation 'PIT4812001:Mia2'
| ID |
556926 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
PIT4812001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
59142368-59237006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59148365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 75
(D75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021384]
[ENSMUST00000219140]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021384
AA Change: D75V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021384
Gene: ENSMUSG00000021000
AA Change: D75V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SH3
|
42 |
100 |
4.03e-2 |
SMART |
|
low complexity region
|
288 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219140
AA Change: D75V
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
| 4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
| Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,720,055 (GRCm39) |
I1082V |
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
| Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
| Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,962,311 (GRCm39) |
E652K |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
| Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
| Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
| Gria4 |
C |
A |
9: 4,427,128 (GRCm39) |
A771S |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
| Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
| Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
| Itgb5 |
G |
T |
16: 33,740,357 (GRCm39) |
C489F |
probably damaging |
Het |
| Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,856,504 (GRCm39) |
V436M |
probably damaging |
Het |
| Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
| Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
| Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
| Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
| Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
| Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
| Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
| Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
| Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
| Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
| Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
| Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
| Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
probably damaging |
Het |
|
| Other mutations in Mia2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- ACTATCAATAAGTAAACGAGAAGCAG -3'
(R):5'- TCTATAGAAATTGTCGAGCAATCAC -3'
Sequencing Primer
(F):5'- GCAGTGACATTTTAAAGTGTGAGC -3'
(R):5'- TAACGTGCTATGTAGATCAGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation