Incidental Mutation 'IGL00793:Maco1'
| ID |
14500 |
| 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: 0.729)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134530070-134580656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134555517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 319
(S319P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030628]
[ENSMUST00000137707]
[ENSMUST00000148595]
|
| AlphaFold |
Q7TQE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030628
AA Change: S319P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: S319P
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Maco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Maco1
|
APN |
4 |
134,560,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02249:Maco1
|
APN |
4 |
134,555,623 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
2012-12-06 |
Incidental Mutation