Incidental Mutation 'R4398:Mia3'
ID |
325573 |
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 |
041130-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4398 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
183107682-183150894 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 183111733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 556
(S556P)
|
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: S237P
|
SMART Domains |
Protein: ENSMUSP00000064801 Gene: ENSMUSG00000056050 AA Change: S237P
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 damaging
Transcript: ENSMUST00000109158
AA Change: S556P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104786 Gene: ENSMUSG00000056050 AA Change: S556P
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
|
Meta Mutation Damage Score |
0.2189 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
96% (53/55) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,231,576 (GRCm39) |
R871L |
possibly damaging |
Het |
Adcy5 |
G |
A |
16: 35,089,363 (GRCm39) |
C520Y |
probably damaging |
Het |
AI661453 |
G |
A |
17: 47,779,042 (GRCm39) |
|
probably benign |
Het |
Bptf |
T |
C |
11: 107,001,670 (GRCm39) |
K481E |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Ctc1 |
C |
T |
11: 68,913,697 (GRCm39) |
P200S |
probably damaging |
Het |
Dact1 |
T |
C |
12: 71,363,959 (GRCm39) |
Y210H |
probably damaging |
Het |
Dbn1 |
T |
C |
13: 55,623,194 (GRCm39) |
T430A |
probably benign |
Het |
Dmd |
A |
C |
X: 82,765,624 (GRCm39) |
T657P |
probably benign |
Het |
Efnb2 |
C |
T |
8: 8,670,832 (GRCm39) |
R256H |
possibly damaging |
Het |
Eif4a1 |
T |
C |
11: 69,560,070 (GRCm39) |
I116M |
possibly damaging |
Het |
F730035P03Rik |
A |
T |
7: 99,429,475 (GRCm39) |
|
noncoding transcript |
Het |
Fbn1 |
C |
T |
2: 125,239,701 (GRCm39) |
V329I |
probably benign |
Het |
Gpr20 |
G |
A |
15: 73,568,125 (GRCm39) |
T88I |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,386,735 (GRCm39) |
V3783G |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,617 (GRCm39) |
D79G |
possibly damaging |
Het |
Klk1b16 |
A |
T |
7: 43,790,851 (GRCm39) |
I218F |
probably damaging |
Het |
Malrd1 |
C |
T |
2: 16,155,594 (GRCm39) |
T2001I |
unknown |
Het |
Myo3a |
T |
A |
2: 22,467,854 (GRCm39) |
D369E |
probably benign |
Het |
Nelfa |
T |
C |
5: 34,058,623 (GRCm39) |
D279G |
possibly damaging |
Het |
Ntrk3 |
A |
T |
7: 77,900,517 (GRCm39) |
C607* |
probably null |
Het |
Or13a20 |
T |
C |
7: 140,232,741 (GRCm39) |
V283A |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,825,380 (GRCm39) |
Q1371L |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,376,061 (GRCm39) |
V1358E |
probably benign |
Het |
Pgr |
T |
C |
9: 8,903,750 (GRCm39) |
|
probably null |
Het |
Prag1 |
A |
G |
8: 36,570,809 (GRCm39) |
D464G |
probably damaging |
Het |
Prickle4 |
A |
G |
17: 48,001,456 (GRCm39) |
|
probably benign |
Het |
Prim2 |
A |
G |
1: 33,551,192 (GRCm39) |
Y309H |
probably damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,642 (GRCm39) |
Q464R |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rint1 |
T |
A |
5: 23,999,445 (GRCm39) |
I78K |
possibly damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,205 (GRCm39) |
F217Y |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,527,234 (GRCm39) |
V360A |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,838,659 (GRCm39) |
|
probably benign |
Het |
Tlr12 |
T |
A |
4: 128,509,988 (GRCm39) |
D754V |
probably benign |
Het |
Tmf1 |
G |
A |
6: 97,155,857 (GRCm39) |
P43L |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,027,630 (GRCm39) |
N873S |
probably benign |
Het |
Tsn |
C |
T |
1: 118,238,799 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,882,289 (GRCm39) |
K250R |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,955,812 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,551 (GRCm39) |
L18P |
probably damaging |
Het |
Vps8 |
T |
G |
16: 21,323,216 (GRCm39) |
N689K |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,963,513 (GRCm39) |
D30E |
possibly damaging |
Het |
Ythdc1 |
G |
T |
5: 86,983,679 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,856 (GRCm39) |
Q86* |
probably null |
Het |
Zfp521 |
C |
T |
18: 13,979,601 (GRCm39) |
E271K |
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 |
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 |
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'- ACAGTGACCCATTTCTCTATGAGG -3'
(R):5'- CACATGGCAGCAGGATTCTG -3'
Sequencing Primer
(F):5'- GACCCATTTCTCTATGAGGATTGAC -3'
(R):5'- GCAGGATTCTGGTGTGGAATG -3'
|
Posted On |
2015-07-06 |