Incidental Mutation 'R8762:Mocos'
ID |
671881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mocos
|
Ensembl Gene |
ENSMUSG00000039616 |
Gene Name |
molybdenum cofactor sulfurase |
Synonyms |
1110018O12Rik |
MMRRC Submission |
068622-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R8762 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24812554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 483
(R483W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: R483W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616 AA Change: R483W
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (66/66) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
A |
G |
11: 101,301,226 (GRCm39) |
V272A |
probably benign |
Het |
Acbd6 |
G |
A |
1: 155,562,706 (GRCm39) |
E236K |
probably damaging |
Het |
Actr1b |
T |
C |
1: 36,748,909 (GRCm39) |
N9S |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,401,595 (GRCm39) |
D133E |
probably benign |
Het |
Adam6b |
G |
A |
12: 113,453,227 (GRCm39) |
V15M |
probably damaging |
Het |
Adam9 |
T |
A |
8: 25,457,235 (GRCm39) |
N631I |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,714,461 (GRCm39) |
N157S |
probably benign |
Het |
Amy2a1 |
A |
T |
3: 113,325,276 (GRCm39) |
|
probably benign |
Het |
Aplnr |
A |
T |
2: 84,967,515 (GRCm39) |
Y180F |
probably benign |
Het |
Arhgef7 |
T |
C |
8: 11,831,216 (GRCm39) |
V105A |
probably benign |
Het |
Bambi |
G |
A |
18: 3,511,277 (GRCm39) |
D33N |
probably damaging |
Het |
Bicc1 |
G |
A |
10: 70,779,216 (GRCm39) |
T724I |
probably benign |
Het |
Brd2 |
T |
A |
17: 34,335,934 (GRCm39) |
Q93L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,972,759 (GRCm39) |
D222G |
possibly damaging |
Het |
Cdh1 |
G |
T |
8: 107,386,336 (GRCm39) |
D420Y |
probably damaging |
Het |
Cep162 |
T |
C |
9: 87,109,314 (GRCm39) |
S430G |
probably benign |
Het |
Cfap161 |
T |
A |
7: 83,443,282 (GRCm39) |
R27S |
possibly damaging |
Het |
Chek1 |
C |
T |
9: 36,629,636 (GRCm39) |
A237T |
probably benign |
Het |
Chrna3 |
T |
A |
9: 54,922,995 (GRCm39) |
K271M |
probably damaging |
Het |
Coro7 |
A |
C |
16: 4,452,203 (GRCm39) |
V410G |
probably benign |
Het |
Crmp1 |
C |
A |
5: 37,441,440 (GRCm39) |
N507K |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
Disc1 |
A |
G |
8: 125,881,796 (GRCm39) |
D577G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,156,811 (GRCm39) |
Y649H |
possibly damaging |
Het |
Flywch1 |
A |
G |
17: 23,975,731 (GRCm39) |
S504P |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,097,851 (GRCm39) |
V46D |
probably damaging |
Het |
Fpr-rs7 |
C |
T |
17: 20,333,789 (GRCm39) |
V234M |
probably benign |
Het |
Ighv5-16 |
T |
C |
12: 113,802,288 (GRCm39) |
N71D |
probably benign |
Het |
Kash5 |
G |
T |
7: 44,845,481 (GRCm39) |
D152E |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,937,157 (GRCm39) |
M480V |
probably benign |
Het |
L3mbtl3 |
T |
A |
10: 26,152,121 (GRCm39) |
D825V |
probably damaging |
Het |
Lef1 |
T |
A |
3: 130,988,366 (GRCm39) |
M311K |
probably damaging |
Het |
Magi1 |
T |
A |
6: 93,792,789 (GRCm39) |
R150* |
probably null |
Het |
Magi3 |
C |
T |
3: 103,958,169 (GRCm39) |
V639I |
probably damaging |
Het |
Mrps11 |
G |
T |
7: 78,438,487 (GRCm39) |
V80F |
possibly damaging |
Het |
Myh2 |
A |
T |
11: 67,084,578 (GRCm39) |
R1706W |
probably damaging |
Het |
Neurod6 |
T |
A |
6: 55,656,228 (GRCm39) |
L136F |
probably damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,711,306 (GRCm39) |
Y308N |
probably damaging |
Het |
Nptn |
T |
A |
9: 58,525,905 (GRCm39) |
|
probably benign |
Het |
Or1e28-ps1 |
G |
T |
11: 73,615,307 (GRCm39) |
T181N |
unknown |
Het |
Or5g25 |
A |
T |
2: 85,478,034 (GRCm39) |
S210R |
probably damaging |
Het |
Oscar |
A |
G |
7: 3,613,900 (GRCm39) |
S227P |
probably benign |
Het |
Phgdh |
A |
C |
3: 98,247,024 (GRCm39) |
I42R |
possibly damaging |
Het |
Pla2g4a |
C |
T |
1: 149,761,935 (GRCm39) |
G174D |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,213 (GRCm39) |
T203A |
possibly damaging |
Het |
Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
Plppr4 |
A |
T |
3: 117,119,482 (GRCm39) |
V309D |
probably damaging |
Het |
Pltp |
T |
C |
2: 164,686,652 (GRCm39) |
K324E |
possibly damaging |
Het |
Pml |
C |
T |
9: 58,154,348 (GRCm39) |
R175H |
probably damaging |
Het |
Psg20 |
C |
A |
7: 18,408,557 (GRCm39) |
V388F |
probably benign |
Het |
Qrfprl |
T |
C |
6: 65,424,393 (GRCm39) |
V182A |
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,237,557 (GRCm39) |
D209G |
possibly damaging |
Het |
Rif1 |
A |
T |
2: 52,001,742 (GRCm39) |
N90I |
|
Het |
Sec31a |
T |
C |
5: 100,526,688 (GRCm39) |
H57R |
|
Het |
Sidt1 |
T |
C |
16: 44,152,707 (GRCm39) |
N62S |
probably benign |
Het |
Slc18a2 |
T |
A |
19: 59,261,355 (GRCm39) |
M172K |
probably benign |
Het |
Slc34a3 |
T |
C |
2: 25,121,003 (GRCm39) |
T362A |
probably benign |
Het |
Smtn |
T |
G |
11: 3,476,407 (GRCm39) |
D158A |
probably benign |
Het |
Spen |
C |
T |
4: 141,200,261 (GRCm39) |
V2789M |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,595,636 (GRCm39) |
V383A |
unknown |
Het |
Themis3 |
A |
T |
17: 66,866,676 (GRCm39) |
M188K |
probably benign |
Het |
Trpv5 |
A |
G |
6: 41,652,313 (GRCm39) |
V124A |
probably benign |
Het |
Tshr |
G |
A |
12: 91,504,324 (GRCm39) |
V421M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,539,426 (GRCm39) |
D34520V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,294 (GRCm39) |
Y17876* |
probably null |
Het |
Zrsr2-ps1 |
T |
C |
11: 22,923,694 (GRCm39) |
L156P |
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 |
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 |
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'- GGTTTCTCAGATACCCAGCAATTC -3'
(R):5'- ACGGGTGCAAGTCCATGATG -3'
Sequencing Primer
(F):5'- GCCTGACTGACATATCTGA -3'
(R):5'- CAAGTCCATGATGTTTGTGTCAG -3'
|
Posted On |
2021-04-30 |