Incidental Mutation 'IGL01062:Maco1'
ID |
50829 |
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 # |
IGL01062
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
134530070-134580656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 134560608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 125
(V125E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030628]
[ENSMUST00000137707]
[ENSMUST00000148595]
|
AlphaFold |
Q7TQE6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030628
AA Change: V125E
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030628 Gene: ENSMUSG00000028826 AA Change: V125E
Domain | Start | End | E-Value | Type |
Pfam:Macoilin
|
2 |
662 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136113
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137707
AA Change: V125E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124477 Gene: ENSMUSG00000028826 AA Change: V125E
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Amer3 |
A |
G |
1: 34,625,820 (GRCm39) |
K20E |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,421,818 (GRCm39) |
L1416P |
probably damaging |
Het |
Avpr1a |
G |
A |
10: 122,285,434 (GRCm39) |
C242Y |
probably damaging |
Het |
Bclaf3 |
T |
C |
X: 158,336,415 (GRCm39) |
Y281H |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,068,361 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,595,239 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
T |
A |
5: 145,731,149 (GRCm39) |
D217V |
possibly damaging |
Het |
Eprs1 |
A |
G |
1: 185,111,812 (GRCm39) |
E274G |
probably benign |
Het |
Ercc6l2 |
G |
T |
13: 63,995,268 (GRCm39) |
Q354H |
probably null |
Het |
Glb1l |
A |
T |
1: 75,177,882 (GRCm39) |
I392N |
probably damaging |
Het |
Gm3173 |
T |
C |
14: 15,728,472 (GRCm39) |
|
probably null |
Het |
Hadh |
C |
T |
3: 131,034,640 (GRCm39) |
V219M |
probably damaging |
Het |
Hspb9 |
A |
G |
11: 100,604,761 (GRCm39) |
H29R |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,017,429 (GRCm39) |
V240L |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,062,494 (GRCm39) |
S1616P |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,907,461 (GRCm39) |
I1662V |
probably benign |
Het |
Mapre3 |
A |
G |
5: 31,022,240 (GRCm39) |
I236V |
probably benign |
Het |
Med17 |
T |
C |
9: 15,190,917 (GRCm39) |
E58G |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,439,522 (GRCm39) |
V348D |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,573,393 (GRCm39) |
I368N |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,118,205 (GRCm39) |
I811V |
probably benign |
Het |
Oas1d |
C |
A |
5: 121,057,127 (GRCm39) |
Y244* |
probably null |
Het |
Or6e1 |
A |
T |
14: 54,520,181 (GRCm39) |
M57K |
probably damaging |
Het |
Osbpl1a |
A |
G |
18: 13,038,132 (GRCm39) |
V273A |
probably benign |
Het |
Pigw |
T |
C |
11: 84,768,769 (GRCm39) |
R187G |
probably benign |
Het |
Plekhg5 |
G |
A |
4: 152,192,953 (GRCm39) |
D603N |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,456,414 (GRCm39) |
V1058A |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,317,296 (GRCm39) |
S537N |
probably benign |
Het |
Rptn |
T |
A |
3: 93,304,489 (GRCm39) |
F607L |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,759,972 (GRCm39) |
V44A |
probably damaging |
Het |
Sh3bp4 |
C |
A |
1: 89,071,682 (GRCm39) |
Q177K |
probably benign |
Het |
Skic3 |
T |
A |
13: 76,303,581 (GRCm39) |
L1225* |
probably null |
Het |
Spmip6 |
T |
A |
4: 41,511,433 (GRCm39) |
E93D |
probably damaging |
Het |
Srrt |
C |
A |
5: 137,294,569 (GRCm39) |
G779V |
probably damaging |
Het |
Tamalin |
A |
G |
15: 101,126,777 (GRCm39) |
|
probably benign |
Het |
Tex21 |
T |
C |
12: 76,245,718 (GRCm39) |
D526G |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,090,821 (GRCm39) |
S138G |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp454 |
T |
C |
11: 50,765,033 (GRCm39) |
E22G |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,765,795 (GRCm39) |
C1441S |
probably benign |
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 |
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 |
2013-06-21 |