Incidental Mutation 'IGL02966:Mocos'
ID |
365595 |
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 # |
IGL02966
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24809668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 424
(C424G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: C424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616 AA Change: C424G
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
Adam18 |
A |
T |
8: 25,101,165 (GRCm39) |
|
probably benign |
Het |
Ahcyl2 |
G |
A |
6: 29,880,556 (GRCm39) |
V175I |
probably benign |
Het |
Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
Dgkq |
T |
A |
5: 108,804,287 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,264,129 (GRCm39) |
S361P |
probably damaging |
Het |
Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,656,806 (GRCm39) |
I646V |
probably benign |
Het |
Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
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 |
IGL02174:Mocos
|
APN |
18 |
24,828,953 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-12-18 |