Incidental Mutation 'R5651:Mia3'
| ID |
441410 |
| 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 |
043297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5651 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183107682-183150894 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 183139998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 239
(D239V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000194543]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194543
AA Change: D239V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141268
Gene: ENSMUSG00000056050
AA Change: D239V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SH3
|
48 |
106 |
1.7e-4 |
SMART |
|
low complexity region
|
138 |
147 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
A |
11: 48,910,700 (GRCm39) |
H578Y |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,909,289 (GRCm39) |
D1161G |
probably damaging |
Het |
| Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,059,617 (GRCm39) |
V318D |
unknown |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Boc |
T |
A |
16: 44,341,558 (GRCm39) |
I16F |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,577,537 (GRCm39) |
T191S |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,739,255 (GRCm39) |
N419K |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,732,521 (GRCm39) |
G471D |
probably damaging |
Het |
| Cftr |
T |
A |
6: 18,255,364 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,449,156 (GRCm39) |
T66S |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,323,136 (GRCm39) |
D83E |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,257 (GRCm39) |
M474L |
possibly damaging |
Het |
| Hhla1 |
T |
A |
15: 65,813,663 (GRCm39) |
E223V |
probably damaging |
Het |
| Hnrnpa1 |
G |
C |
15: 103,148,955 (GRCm39) |
E5D |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,143 (GRCm39) |
V241E |
probably damaging |
Het |
| Ier5 |
T |
C |
1: 154,974,491 (GRCm39) |
E229G |
possibly damaging |
Het |
| Inka2 |
C |
A |
3: 105,623,748 (GRCm39) |
Q22K |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,331,910 (GRCm39) |
M276K |
possibly damaging |
Het |
| Mast1 |
G |
C |
8: 85,655,597 (GRCm39) |
Y182* |
probably null |
Het |
| Mmut |
T |
A |
17: 41,258,002 (GRCm39) |
D389E |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,355,016 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,520,101 (GRCm39) |
C739R |
probably null |
Het |
| Or13e8 |
C |
G |
4: 43,696,636 (GRCm39) |
C179S |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,784 (GRCm39) |
I282T |
probably benign |
Het |
| Or9e1 |
A |
T |
11: 58,732,317 (GRCm39) |
R126* |
probably null |
Het |
| Palld |
A |
T |
8: 61,991,822 (GRCm39) |
I510N |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,074,589 (GRCm39) |
E381G |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,623,200 (GRCm39) |
T618I |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,810,361 (GRCm39) |
E3631G |
possibly damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,767,940 (GRCm39) |
T828A |
probably benign |
Het |
| Psmb5 |
C |
T |
14: 54,854,221 (GRCm39) |
A86T |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 156,984,951 (GRCm39) |
V907A |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,627,353 (GRCm39) |
T24M |
probably benign |
Het |
| Senp1 |
A |
G |
15: 97,974,498 (GRCm39) |
S105P |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,816,201 (GRCm39) |
D486G |
probably damaging |
Het |
| Slc49a4 |
G |
A |
16: 35,555,986 (GRCm39) |
A158V |
probably benign |
Het |
| Slfn5 |
A |
C |
11: 82,851,490 (GRCm39) |
N596H |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,689,526 (GRCm39) |
D229E |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,479,455 (GRCm39) |
K57E |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,343,212 (GRCm39) |
C1135Y |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,508 (GRCm39) |
L237P |
probably benign |
Het |
| Vcpip1 |
G |
A |
1: 9,818,065 (GRCm39) |
T106M |
probably damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,259,981 (GRCm39) |
I7S |
possibly damaging |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,279 (GRCm39) |
M224L |
probably benign |
Het |
| Xpot |
A |
T |
10: 121,440,454 (GRCm39) |
D592E |
probably 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 |
|
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'- CGGGTAATACTCAGCATCCAGC -3'
(R):5'- CGAGGCATTCAGAGCTGATTC -3'
Sequencing Primer
(F):5'- CATCGAAGCCGTCTTCTAATGAAGTG -3'
(R):5'- CATTCAGAGCTGATTCAGAGGATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation