Incidental Mutation 'IGL02249:Maco1'
| ID |
286307 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Maco1
|
| Ensembl Gene |
ENSMUSG00000028826 |
| Gene Name |
macoilin 1 |
| Synonyms |
Tmem57, 9230118A01Rik, 1110007C24Rik, C61 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.637)
|
| Stock # |
IGL02249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134530070-134580656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134555623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 283
(I283M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030628]
[ENSMUST00000137707]
[ENSMUST00000148595]
|
| AlphaFold |
Q7TQE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030628
AA Change: I283M
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: I283M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
662 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137707
|
| SMART Domains |
Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
157 |
2.1e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148595
|
| SMART Domains |
Protein: ENSMUSP00000125440
Gene: ENSMUSG00000028826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Macoilin
|
2 |
78 |
7e-48 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
| Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
| Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
| Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
| Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
| Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
| Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
| Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
| Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
| Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably damaging |
Het |
|
| Other mutations in Maco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00793:Maco1
|
APN |
4 |
134,555,517 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01062:Maco1
|
APN |
4 |
134,560,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02850:Maco1
|
APN |
4 |
134,555,697 (GRCm39) |
missense |
probably benign |
0.12 |
|
subtle
|
UTSW |
4 |
134,555,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Maco1
|
UTSW |
4 |
134,555,427 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0548:Maco1
|
UTSW |
4 |
134,533,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Maco1
|
UTSW |
4 |
134,555,528 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1536:Maco1
|
UTSW |
4 |
134,531,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Maco1
|
UTSW |
4 |
134,555,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2151:Maco1
|
UTSW |
4 |
134,538,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2509:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Maco1
|
UTSW |
4 |
134,531,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Maco1
|
UTSW |
4 |
134,557,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3946:Maco1
|
UTSW |
4 |
134,531,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Maco1
|
UTSW |
4 |
134,555,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Maco1
|
UTSW |
4 |
134,555,444 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5169:Maco1
|
UTSW |
4 |
134,555,774 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5310:Maco1
|
UTSW |
4 |
134,564,330 (GRCm39) |
intron |
probably benign |
|
|
R5443:Maco1
|
UTSW |
4 |
134,560,619 (GRCm39) |
nonsense |
probably null |
|
|
R5554:Maco1
|
UTSW |
4 |
134,555,445 (GRCm39) |
missense |
probably benign |
|
|
R5712:Maco1
|
UTSW |
4 |
134,555,369 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6627:Maco1
|
UTSW |
4 |
134,563,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7100:Maco1
|
UTSW |
4 |
134,533,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Maco1
|
UTSW |
4 |
134,555,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8059:Maco1
|
UTSW |
4 |
134,555,359 (GRCm39) |
nonsense |
probably null |
|
|
R8300:Maco1
|
UTSW |
4 |
134,555,762 (GRCm39) |
missense |
probably benign |
|
|
R9246:Maco1
|
UTSW |
4 |
134,565,242 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9786:Maco1
|
UTSW |
4 |
134,557,993 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Maco1
|
UTSW |
4 |
134,563,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation