Incidental Mutation 'R5852:Mia3'
| ID |
454708 |
| 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 |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183107682-183150894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 183113713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 437
(V437A)
|
| 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: V118A
|
| SMART Domains |
Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: V118A
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000109158
AA Change: V437A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: V437A
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Il27 |
T |
A |
7: 126,191,786 (GRCm39) |
T89S |
possibly damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
possibly damaging |
Het |
|
| Other mutations in Mia3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CGGTGACTGAATGGACTCAC -3'
(R):5'- TGTCTGGGCATTAAGGGAAG -3'
Sequencing Primer
(F):5'- GGTGACTGAATGGACTCACATCCC -3'
(R):5'- CAGATTTTGAGTTCCAGGACAGCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation