Incidental Mutation 'IGL02976:Mocos'
ID |
406380 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mocos
|
Ensembl Gene |
ENSMUSG00000039616 |
Gene Name |
molybdenum cofactor sulfurase |
Synonyms |
1110018O12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
IGL02976
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24799626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 287
(K287E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068006
AA Change: K287E
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616 AA Change: K287E
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_5
|
50 |
481 |
7.5e-29 |
PFAM |
Pfam:MOSC_N
|
569 |
689 |
1.1e-32 |
PFAM |
Pfam:MOSC
|
715 |
853 |
3.7e-21 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities (Ichida et al., 2001 [PubMed 11302742]).[supplied by OMIM, Feb 2010]
|
Allele List at MGI |
All alleles(11) : Targeted(1) Gene trapped(10)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
A |
G |
9: 101,816,845 (GRCm39) |
T84A |
possibly damaging |
Het |
Adgrd1 |
T |
A |
5: 129,208,661 (GRCm39) |
S288T |
probably benign |
Het |
Ano7 |
T |
A |
1: 93,330,395 (GRCm39) |
D806E |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,444,259 (GRCm39) |
L79P |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,129,310 (GRCm39) |
C695* |
probably null |
Het |
Carmil1 |
T |
C |
13: 24,276,534 (GRCm39) |
N610S |
possibly damaging |
Het |
Cdc40 |
A |
G |
10: 40,758,917 (GRCm39) |
V52A |
probably benign |
Het |
Chd4 |
G |
A |
6: 125,098,331 (GRCm39) |
R369H |
probably damaging |
Het |
Clasp2 |
C |
T |
9: 113,735,204 (GRCm39) |
P1031L |
probably damaging |
Het |
Cldn34d |
C |
T |
X: 75,626,690 (GRCm39) |
A121T |
probably benign |
Het |
Clmp |
A |
C |
9: 40,692,520 (GRCm39) |
Y263S |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,419,104 (GRCm39) |
|
probably benign |
Het |
Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
Fut1 |
C |
T |
7: 45,268,744 (GRCm39) |
R233C |
probably damaging |
Het |
Gcdh |
A |
C |
8: 85,615,207 (GRCm39) |
Y398D |
probably damaging |
Het |
Gm26741 |
T |
G |
10: 52,234,910 (GRCm39) |
S16R |
possibly damaging |
Het |
Jph3 |
T |
A |
8: 122,479,823 (GRCm39) |
L167Q |
probably damaging |
Het |
Jup |
A |
G |
11: 100,269,192 (GRCm39) |
V407A |
probably benign |
Het |
Kif17 |
C |
T |
4: 137,996,374 (GRCm39) |
A117V |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Magi2 |
C |
T |
5: 20,739,473 (GRCm39) |
P349S |
probably damaging |
Het |
Mlycd |
T |
C |
8: 120,128,224 (GRCm39) |
M177T |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,356,497 (GRCm39) |
H425L |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,355,084 (GRCm39) |
|
probably benign |
Het |
Myo3a |
G |
A |
2: 22,434,494 (GRCm39) |
W825* |
probably null |
Het |
Npas2 |
T |
C |
1: 39,326,565 (GRCm39) |
S17P |
probably damaging |
Het |
Nrk |
A |
G |
X: 137,892,817 (GRCm39) |
I1174V |
probably benign |
Het |
Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,337 (GRCm39) |
Y256* |
probably null |
Het |
Or4k2 |
G |
A |
14: 50,423,889 (GRCm39) |
Q262* |
probably null |
Het |
Parpbp |
A |
G |
10: 87,947,456 (GRCm39) |
|
probably null |
Het |
Pcdh10 |
T |
C |
3: 45,334,448 (GRCm39) |
V254A |
possibly damaging |
Het |
Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,813,704 (GRCm39) |
V149A |
probably benign |
Het |
Rassf4 |
T |
C |
6: 116,615,209 (GRCm39) |
E320G |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,152,936 (GRCm39) |
D448E |
possibly damaging |
Het |
Rnf32 |
C |
T |
5: 29,411,710 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
A |
11: 75,203,628 (GRCm39) |
D358V |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,742,668 (GRCm39) |
N747S |
probably damaging |
Het |
Slc17a4 |
A |
C |
13: 24,089,407 (GRCm39) |
M170R |
probably damaging |
Het |
Slc5a4a |
G |
A |
10: 76,006,527 (GRCm39) |
V310M |
possibly damaging |
Het |
Spag9 |
G |
A |
11: 93,974,779 (GRCm39) |
R463H |
probably benign |
Het |
Spmip5 |
A |
T |
19: 58,777,552 (GRCm39) |
V78E |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Syt10 |
A |
G |
15: 89,698,682 (GRCm39) |
S221P |
probably benign |
Het |
Tlk1 |
T |
A |
2: 70,551,935 (GRCm39) |
K579* |
probably null |
Het |
Tubgcp3 |
T |
C |
8: 12,682,300 (GRCm39) |
Y673C |
probably damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,434,165 (GRCm39) |
F253S |
probably damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,304,832 (GRCm39) |
M14T |
probably benign |
Het |
Zfp59 |
A |
G |
7: 27,552,821 (GRCm39) |
D91G |
probably benign |
Het |
|
Other mutations in Mocos |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00310:Mocos
|
APN |
18 |
24,793,101 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01859:Mocos
|
APN |
18 |
24,799,717 (GRCm39) |
splice site |
probably benign |
|
IGL01884:Mocos
|
APN |
18 |
24,816,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02174:Mocos
|
APN |
18 |
24,828,953 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02966:Mocos
|
APN |
18 |
24,809,668 (GRCm39) |
missense |
probably damaging |
1.00 |
buteo
|
UTSW |
18 |
24,799,467 (GRCm39) |
missense |
probably damaging |
0.98 |
swainson
|
UTSW |
18 |
24,812,447 (GRCm39) |
missense |
probably damaging |
1.00 |
P0008:Mocos
|
UTSW |
18 |
24,812,663 (GRCm39) |
missense |
probably benign |
0.32 |
PIT4810001:Mocos
|
UTSW |
18 |
24,819,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Mocos
|
UTSW |
18 |
24,812,819 (GRCm39) |
missense |
probably benign |
0.01 |
R0131:Mocos
|
UTSW |
18 |
24,812,819 (GRCm39) |
missense |
probably benign |
0.01 |
R0132:Mocos
|
UTSW |
18 |
24,812,819 (GRCm39) |
missense |
probably benign |
0.01 |
R0265:Mocos
|
UTSW |
18 |
24,799,333 (GRCm39) |
missense |
probably benign |
0.01 |
R0737:Mocos
|
UTSW |
18 |
24,822,044 (GRCm39) |
missense |
probably damaging |
0.98 |
R1231:Mocos
|
UTSW |
18 |
24,812,758 (GRCm39) |
missense |
probably benign |
0.01 |
R1351:Mocos
|
UTSW |
18 |
24,793,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Mocos
|
UTSW |
18 |
24,816,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Mocos
|
UTSW |
18 |
24,829,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R2190:Mocos
|
UTSW |
18 |
24,797,114 (GRCm39) |
missense |
probably benign |
0.01 |
R2350:Mocos
|
UTSW |
18 |
24,799,713 (GRCm39) |
splice site |
probably benign |
|
R2680:Mocos
|
UTSW |
18 |
24,809,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R3840:Mocos
|
UTSW |
18 |
24,809,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R3841:Mocos
|
UTSW |
18 |
24,809,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Mocos
|
UTSW |
18 |
24,809,719 (GRCm39) |
missense |
probably damaging |
0.99 |
R4059:Mocos
|
UTSW |
18 |
24,812,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R4158:Mocos
|
UTSW |
18 |
24,807,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R4205:Mocos
|
UTSW |
18 |
24,799,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4514:Mocos
|
UTSW |
18 |
24,816,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R4589:Mocos
|
UTSW |
18 |
24,787,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R4667:Mocos
|
UTSW |
18 |
24,799,491 (GRCm39) |
missense |
probably benign |
0.11 |
R4668:Mocos
|
UTSW |
18 |
24,799,491 (GRCm39) |
missense |
probably benign |
0.11 |
R5162:Mocos
|
UTSW |
18 |
24,787,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R5187:Mocos
|
UTSW |
18 |
24,825,611 (GRCm39) |
missense |
probably damaging |
0.97 |
R5533:Mocos
|
UTSW |
18 |
24,807,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Mocos
|
UTSW |
18 |
24,797,142 (GRCm39) |
critical splice donor site |
probably null |
|
R5661:Mocos
|
UTSW |
18 |
24,799,052 (GRCm39) |
splice site |
probably null |
|
R5952:Mocos
|
UTSW |
18 |
24,834,444 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5987:Mocos
|
UTSW |
18 |
24,819,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:Mocos
|
UTSW |
18 |
24,809,639 (GRCm39) |
missense |
probably benign |
0.03 |
R6209:Mocos
|
UTSW |
18 |
24,799,672 (GRCm39) |
missense |
probably benign |
0.41 |
R6376:Mocos
|
UTSW |
18 |
24,834,542 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6416:Mocos
|
UTSW |
18 |
24,834,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R6452:Mocos
|
UTSW |
18 |
24,828,998 (GRCm39) |
missense |
probably benign |
0.02 |
R6520:Mocos
|
UTSW |
18 |
24,799,447 (GRCm39) |
missense |
probably benign |
0.01 |
R6631:Mocos
|
UTSW |
18 |
24,832,988 (GRCm39) |
missense |
probably benign |
0.03 |
R6669:Mocos
|
UTSW |
18 |
24,799,467 (GRCm39) |
missense |
probably damaging |
0.98 |
R7114:Mocos
|
UTSW |
18 |
24,799,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Mocos
|
UTSW |
18 |
24,809,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7690:Mocos
|
UTSW |
18 |
24,797,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7955:Mocos
|
UTSW |
18 |
24,799,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Mocos
|
UTSW |
18 |
24,799,314 (GRCm39) |
missense |
probably benign |
0.00 |
R8762:Mocos
|
UTSW |
18 |
24,812,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R9072:Mocos
|
UTSW |
18 |
24,797,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R9073:Mocos
|
UTSW |
18 |
24,797,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R9192:Mocos
|
UTSW |
18 |
24,812,594 (GRCm39) |
missense |
probably benign |
0.00 |
R9781:Mocos
|
UTSW |
18 |
24,828,939 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Mocos
|
UTSW |
18 |
24,803,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |