Incidental Mutation 'R5162:Mocos'
ID |
397080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mocos
|
Ensembl Gene |
ENSMUSG00000039616 |
Gene Name |
molybdenum cofactor sulfurase |
Synonyms |
1110018O12Rik |
MMRRC Submission |
042744-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R5162 (G1)
|
Quality Score |
87 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24787109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 43
(F43L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: F43L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616 AA Change: F43L
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 |
|
Meta Mutation Damage Score |
0.6021 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (61/62) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,301 (GRCm39) |
T229S |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,717,348 (GRCm39) |
E367G |
probably benign |
Het |
Ak9 |
T |
A |
10: 41,233,653 (GRCm39) |
N630K |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
Cry1 |
T |
A |
10: 84,969,150 (GRCm39) |
H558L |
probably benign |
Het |
Cstdc3 |
A |
T |
16: 36,132,918 (GRCm39) |
H65L |
probably damaging |
Het |
Cyp3a57 |
T |
A |
5: 145,305,893 (GRCm39) |
W126R |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,401,201 (GRCm39) |
V355E |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,604,013 (GRCm39) |
|
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,710,692 (GRCm39) |
D694G |
probably benign |
Het |
Esrp2 |
T |
C |
8: 106,859,930 (GRCm39) |
E336G |
probably damaging |
Het |
Faah |
A |
T |
4: 115,857,938 (GRCm39) |
|
probably benign |
Het |
Fat1 |
G |
A |
8: 45,478,846 (GRCm39) |
G2608R |
probably benign |
Het |
Fbxo8 |
A |
T |
8: 57,022,354 (GRCm39) |
Y122F |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,051,215 (GRCm39) |
D1497G |
probably damaging |
Het |
Fn3krp |
T |
C |
11: 121,320,410 (GRCm39) |
F252L |
probably damaging |
Het |
Fnip2 |
T |
C |
3: 79,389,084 (GRCm39) |
Y549C |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,257,131 (GRCm39) |
N206S |
probably benign |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
H2-T10 |
T |
A |
17: 36,429,843 (GRCm39) |
|
probably null |
Het |
Henmt1 |
T |
C |
3: 108,847,366 (GRCm39) |
|
probably null |
Het |
Man1b1 |
T |
A |
2: 25,233,365 (GRCm39) |
L246Q |
probably damaging |
Het |
Mdh2 |
T |
C |
5: 135,812,329 (GRCm39) |
|
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,359,914 (GRCm39) |
I441F |
possibly damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nars2 |
T |
C |
7: 96,709,027 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,245,396 (GRCm39) |
M434K |
possibly damaging |
Het |
Nlrp4g |
T |
A |
9: 124,350,394 (GRCm38) |
|
noncoding transcript |
Het |
Or14j8 |
T |
A |
17: 38,263,255 (GRCm39) |
Q220L |
probably benign |
Het |
Or9a2 |
G |
T |
6: 41,748,706 (GRCm39) |
H176N |
possibly damaging |
Het |
Pals2 |
T |
A |
6: 50,155,495 (GRCm39) |
W259R |
probably damaging |
Het |
Pars2 |
A |
G |
4: 106,511,735 (GRCm39) |
T506A |
probably benign |
Het |
Pkp2 |
T |
C |
16: 16,078,200 (GRCm39) |
S481P |
probably damaging |
Het |
Plod3 |
T |
C |
5: 137,020,161 (GRCm39) |
W459R |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,121,482 (GRCm39) |
L181M |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,251,714 (GRCm39) |
I361F |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Raver2 |
T |
C |
4: 100,959,921 (GRCm39) |
C134R |
probably damaging |
Het |
Rnf130 |
G |
C |
11: 49,943,722 (GRCm39) |
A123P |
probably damaging |
Het |
Slc29a4 |
G |
A |
5: 142,707,207 (GRCm39) |
A517T |
possibly damaging |
Het |
Slc38a6 |
T |
A |
12: 73,376,759 (GRCm39) |
S138T |
possibly damaging |
Het |
Spred1 |
T |
C |
2: 117,008,102 (GRCm39) |
V336A |
possibly damaging |
Het |
Sptlc3 |
T |
A |
2: 139,473,263 (GRCm39) |
M504K |
probably benign |
Het |
Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
Trim23 |
C |
T |
13: 104,317,682 (GRCm39) |
T61I |
probably damaging |
Het |
Tsg101 |
T |
C |
7: 46,542,174 (GRCm39) |
T260A |
probably damaging |
Het |
Tyw5 |
T |
C |
1: 57,440,618 (GRCm39) |
Y48C |
probably damaging |
Het |
Utp25 |
G |
T |
1: 192,796,089 (GRCm39) |
T192K |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Vmn2r89 |
C |
A |
14: 51,693,620 (GRCm39) |
H323Q |
possibly damaging |
Het |
Vps18 |
A |
G |
2: 119,123,423 (GRCm39) |
S117G |
probably benign |
Het |
Zfp93 |
C |
G |
7: 23,975,757 (GRCm39) |
Q581E |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCGCCTGCCTTGCTCAC -3'
(R):5'- AGAGAAGTCAGGCTGGTCTC -3'
Sequencing Primer
(F):5'- TCACTTCCCGGGCTGGAC -3'
(R):5'- CAAGAAGTCTTGCTACTGCGG -3'
|
Posted On |
2016-06-21 |