Incidental Mutation 'IGL02174:Mocos'
ID |
283044 |
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 # |
IGL02174
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24828953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 753
(S753P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068006
AA Change: S753P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616 AA Change: S753P
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,738,154 (GRCm39) |
I1199V |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,575,783 (GRCm39) |
T4861I |
probably benign |
Het |
Ampd2 |
T |
C |
3: 107,987,601 (GRCm39) |
D108G |
probably damaging |
Het |
Azin1 |
A |
G |
15: 38,493,730 (GRCm39) |
F298L |
probably benign |
Het |
Bag1 |
T |
A |
4: 40,941,555 (GRCm39) |
E123D |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,339 (GRCm39) |
E330G |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,940,938 (GRCm39) |
K435E |
probably benign |
Het |
Clip2 |
T |
G |
5: 134,523,118 (GRCm39) |
K943T |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,185,415 (GRCm39) |
I3527V |
possibly damaging |
Het |
Cyp2w1 |
C |
T |
5: 139,341,384 (GRCm39) |
R244C |
probably benign |
Het |
Dcaf13 |
C |
A |
15: 39,001,544 (GRCm39) |
A284E |
probably damaging |
Het |
Ddx31 |
T |
A |
2: 28,749,041 (GRCm39) |
L279Q |
probably damaging |
Het |
Dgki |
A |
G |
6: 37,009,856 (GRCm39) |
L497P |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,428,072 (GRCm39) |
I233F |
probably benign |
Het |
Dpp6 |
G |
T |
5: 27,926,085 (GRCm39) |
G720* |
probably null |
Het |
Emc1 |
T |
C |
4: 139,098,979 (GRCm39) |
Y821H |
possibly damaging |
Het |
Esr1 |
C |
T |
10: 4,948,003 (GRCm39) |
R519W |
probably damaging |
Het |
Gamt |
A |
T |
10: 80,094,230 (GRCm39) |
V227E |
possibly damaging |
Het |
Habp2 |
A |
G |
19: 56,300,169 (GRCm39) |
Q206R |
probably damaging |
Het |
Ihh |
A |
G |
1: 74,990,105 (GRCm39) |
I90T |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,911,858 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
T |
C |
11: 34,000,966 (GRCm39) |
|
probably benign |
Het |
Lyrm2 |
A |
G |
4: 32,800,649 (GRCm39) |
I29V |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,385,587 (GRCm39) |
D1168G |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,337,204 (GRCm39) |
E367G |
probably benign |
Het |
Ndor1 |
G |
A |
2: 25,139,206 (GRCm39) |
A255V |
possibly damaging |
Het |
Nfat5 |
C |
T |
8: 108,065,683 (GRCm39) |
P148S |
probably damaging |
Het |
Or4c121 |
A |
T |
2: 89,023,712 (GRCm39) |
F222Y |
probably benign |
Het |
Or5al7 |
T |
A |
2: 85,992,442 (GRCm39) |
M284L |
possibly damaging |
Het |
Or6z7 |
T |
C |
7: 6,483,438 (GRCm39) |
Y239C |
probably benign |
Het |
Or8b41 |
A |
T |
9: 38,055,081 (GRCm39) |
T217S |
possibly damaging |
Het |
Pappa2 |
C |
T |
1: 158,589,188 (GRCm39) |
C1679Y |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,551 (GRCm39) |
I508N |
probably damaging |
Het |
Pkd2l1 |
G |
A |
19: 44,145,707 (GRCm39) |
T172I |
probably benign |
Het |
Pld5 |
A |
G |
1: 176,102,310 (GRCm39) |
V44A |
possibly damaging |
Het |
Prss44 |
T |
C |
9: 110,646,199 (GRCm39) |
W309R |
probably damaging |
Het |
Rc3h2 |
A |
T |
2: 37,301,237 (GRCm39) |
N88K |
probably benign |
Het |
Rspry1 |
A |
G |
8: 95,359,768 (GRCm39) |
I102M |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,695,606 (GRCm39) |
|
probably null |
Het |
Tbx3 |
C |
A |
5: 119,813,649 (GRCm39) |
Y228* |
probably null |
Het |
Tcf15 |
G |
T |
2: 151,986,065 (GRCm39) |
|
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,578,003 (GRCm39) |
S94P |
possibly damaging |
Het |
Trmt10b |
A |
T |
4: 45,308,508 (GRCm39) |
I223F |
possibly damaging |
Het |
Tyrp1 |
G |
T |
4: 80,763,063 (GRCm39) |
G317* |
probably null |
Het |
Urod |
T |
A |
4: 116,847,479 (GRCm39) |
|
probably benign |
Het |
Vwf |
G |
T |
6: 125,532,358 (GRCm39) |
R52L |
probably damaging |
Het |
Wnk2 |
C |
A |
13: 49,210,643 (GRCm39) |
Q232H |
probably damaging |
Het |
Zbtb10 |
C |
A |
3: 9,316,872 (GRCm39) |
P228Q |
probably damaging |
Het |
Zfp764l1 |
G |
A |
7: 126,991,525 (GRCm39) |
T154I |
possibly damaging |
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 |
IGL02966:Mocos
|
APN |
18 |
24,809,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Mocos
|
APN |
18 |
24,799,626 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
2015-04-16 |