Incidental Mutation 'R2334:Mia3'
| ID |
246511 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183107682-183150894 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 183115256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109158]
[ENSMUST00000109158]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069922
|
| SMART Domains |
Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
| 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 null
Transcript: ENSMUST00000069922
|
| SMART Domains |
Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
| 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 null
Transcript: ENSMUST00000109158
|
| SMART Domains |
Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
| 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 null
Transcript: ENSMUST00000109158
|
| SMART Domains |
Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,429 (GRCm39) |
K283R |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,516 (GRCm39) |
F169S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,799,855 (GRCm39) |
Q556R |
probably damaging |
Het |
| Cpa5 |
G |
A |
6: 30,624,605 (GRCm39) |
W148* |
probably null |
Het |
| Cryz |
C |
T |
3: 154,327,828 (GRCm39) |
A310V |
probably benign |
Het |
| Dlk1 |
T |
C |
12: 109,419,614 (GRCm39) |
V10A |
probably damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,267,429 (GRCm39) |
L267F |
probably benign |
Het |
| Frmpd1 |
T |
C |
4: 45,285,408 (GRCm39) |
S1410P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,261 (GRCm39) |
I982F |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mlh3 |
T |
A |
12: 85,314,851 (GRCm39) |
D445V |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,501,825 (GRCm39) |
N129K |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,340,534 (GRCm39) |
E93D |
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,895,608 (GRCm39) |
Y163* |
probably null |
Het |
| Or2ak5 |
A |
T |
11: 58,611,288 (GRCm39) |
Y195* |
probably null |
Het |
| Or5p59 |
C |
T |
7: 107,702,555 (GRCm39) |
T13I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,229,644 (GRCm39) |
S1005P |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,150 (GRCm39) |
P258S |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,556,138 (GRCm39) |
E21962G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,087,202 (GRCm39) |
D1515G |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,800 (GRCm39) |
N559S |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,032 (GRCm39) |
I158K |
probably benign |
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 |
|
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 |
|
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'- ACCCAGCTTTAGCAGTCTGC -3'
(R):5'- ATGGACGTCTCTCGGGTATC -3'
Sequencing Primer
(F):5'- CGAGCTGCGGTCATCTTC -3'
(R):5'- ATCGACCTGTTTGTAGCCCTAGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation