Incidental Mutation 'R9775:Mia3'
| ID |
733617 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183107682-183150894 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 183109125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 656
(R656*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109158]
[ENSMUST00000109166]
[ENSMUST00000193625]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069922
AA Change: R337*
|
| SMART Domains |
Protein: ENSMUSP00000064801
Gene: ENSMUSG00000056050
AA Change: R337*
| 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
AA Change: R656*
|
| SMART Domains |
Protein: ENSMUSP00000104786
Gene: ENSMUSG00000056050
AA Change: R656*
| 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: ENSMUST00000109166
|
| SMART Domains |
Protein: ENSMUSP00000104795
Gene: ENSMUSG00000042901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aida_N
|
9 |
112 |
1.9e-43 |
PFAM |
|
low complexity region
|
122 |
144 |
N/A |
INTRINSIC |
|
Pfam:Aida_C2
|
155 |
300 |
2.4e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193625
|
| SMART Domains |
Protein: ENSMUSP00000141649
Gene: ENSMUSG00000042901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aida_N
|
8 |
113 |
2.3e-49 |
PFAM |
|
low complexity region
|
122 |
144 |
N/A |
INTRINSIC |
|
Pfam:Aida_C2
|
145 |
219 |
6.4e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| Angptl2 |
G |
A |
2: 33,118,230 (GRCm39) |
M1I |
probably null |
Het |
| Bptf |
T |
C |
11: 106,934,502 (GRCm39) |
E223G |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,076,458 (GRCm39) |
I805N |
|
Het |
| Cep152 |
G |
A |
2: 125,423,660 (GRCm39) |
Q914* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,725,740 (GRCm39) |
T794A |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 47,026,261 (GRCm39) |
Y970C |
probably damaging |
Het |
| Ddx11 |
G |
T |
17: 66,445,157 (GRCm39) |
V360L |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,497,098 (GRCm39) |
V1223I |
probably benign |
Het |
| Fez2 |
A |
T |
17: 78,708,183 (GRCm39) |
I255N |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,197 (GRCm39) |
V439A |
possibly damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,741 (GRCm39) |
I128F |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,393 (GRCm39) |
D146G |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,999,639 (GRCm39) |
R110W |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,491,047 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
C |
A |
4: 35,708,781 (GRCm39) |
A400S |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,899,897 (GRCm39) |
R67S |
probably benign |
Het |
| Mapk6 |
C |
T |
9: 75,295,668 (GRCm39) |
C610Y |
possibly damaging |
Het |
| Myoz2 |
T |
C |
3: 122,807,399 (GRCm39) |
E137G |
probably damaging |
Het |
| Nemp2 |
T |
A |
1: 52,680,064 (GRCm39) |
I96N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,742 (GRCm39) |
M351V |
possibly damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,029 (GRCm39) |
S77N |
possibly damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,568 (GRCm39) |
M96V |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,069 (GRCm39) |
R302S |
possibly damaging |
Het |
| Or6c5c |
T |
C |
10: 129,298,677 (GRCm39) |
I44T |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 109,013,747 (GRCm39) |
|
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,520,797 (GRCm39) |
C58Y |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,208,927 (GRCm39) |
F2480L |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,147,853 (GRCm39) |
D419E |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,323,435 (GRCm39) |
T242S |
probably benign |
Het |
| Ppp1r13b |
A |
C |
12: 111,803,457 (GRCm39) |
S254A |
possibly damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,244 (GRCm39) |
M213T |
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,252 (GRCm39) |
L151S |
unknown |
Het |
| Scmh1 |
A |
T |
4: 120,340,820 (GRCm39) |
M169L |
probably benign |
Het |
| Serpinb9d |
A |
T |
13: 33,382,007 (GRCm39) |
R159W |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,970 (GRCm39) |
R583G |
possibly damaging |
Het |
| Smim8 |
T |
C |
4: 34,769,068 (GRCm39) |
E72G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,199,604 (GRCm39) |
N511S |
probably damaging |
Het |
| Srprb |
A |
C |
9: 103,078,490 (GRCm39) |
V80G |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,136,808 (GRCm39) |
S352N |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,652,666 (GRCm39) |
S152P |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,555,761 (GRCm39) |
I2822T |
possibly damaging |
Het |
| Tff1 |
A |
G |
17: 31,383,972 (GRCm39) |
V8A |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,566 (GRCm39) |
S891T |
probably benign |
Het |
| Tmem200c |
T |
A |
17: 69,149,118 (GRCm39) |
V567D |
probably damaging |
Het |
| Trim3 |
G |
A |
7: 105,260,377 (GRCm39) |
T708M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,927 (GRCm39) |
N32725S |
possibly damaging |
Het |
| Ubash3b |
T |
G |
9: 40,926,214 (GRCm39) |
E633A |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,239,780 (GRCm39) |
R170G |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,037,406 (GRCm39) |
L1222Q |
unknown |
Het |
| Zfhx2 |
A |
G |
14: 55,304,562 (GRCm39) |
S1141P |
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGCTCAGAAAAGTGGG -3'
(R):5'- CACTGGCAATATGGGGTGAG -3'
Sequencing Primer
(F):5'- AGTGTACTCTTAGCTTTAGTCTCAG -3'
(R):5'- TGAGGTAGTGTTACACTGACAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation