Incidental Mutation 'R7690:Mocos'
| ID |
593365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocos
|
| Ensembl Gene |
ENSMUSG00000039616 |
| Gene Name |
molybdenum cofactor sulfurase |
| Synonyms |
1110018O12Rik |
| MMRRC Submission |
045754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R7690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24797082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 81
(H81Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
| AlphaFold |
Q14CH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: H81Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: H81Y
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| 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 |
|---|
| Abca12 |
T |
A |
1: 71,353,313 (GRCm39) |
T710S |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
| Agap1 |
T |
C |
1: 89,770,793 (GRCm39) |
S648P |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,392,417 (GRCm39) |
H368R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,990,161 (GRCm39) |
F761L |
probably damaging |
Het |
| Aox4 |
T |
C |
1: 58,303,076 (GRCm39) |
V1169A |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,706,996 (GRCm39) |
M11K |
unknown |
Het |
| Arl5a |
G |
T |
2: 52,302,077 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,376,528 (GRCm39) |
T1323I |
probably benign |
Het |
| Cmtm5 |
G |
A |
14: 55,173,938 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,419,420 (GRCm39) |
Y194H |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,479,938 (GRCm39) |
I415T |
possibly damaging |
Het |
| Ddx28 |
A |
G |
8: 106,736,963 (GRCm39) |
V365A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,146,063 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,995,946 (GRCm39) |
T312S |
probably benign |
Het |
| Erich4 |
C |
A |
7: 25,314,710 (GRCm39) |
V68L |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,328,660 (GRCm39) |
P700S |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,477 (GRCm39) |
N2175S |
probably damaging |
Het |
| Fcrl6 |
T |
G |
1: 172,426,223 (GRCm39) |
R191S |
probably damaging |
Het |
| Fpgt |
A |
G |
3: 154,793,467 (GRCm39) |
S187P |
probably damaging |
Het |
| Gapvd1 |
T |
G |
2: 34,619,134 (GRCm39) |
T80P |
possibly damaging |
Het |
| Gclm |
A |
G |
3: 122,039,705 (GRCm39) |
N24S |
probably damaging |
Het |
| Gdf15 |
A |
G |
8: 71,083,997 (GRCm39) |
I89T |
possibly damaging |
Het |
| Gpn2 |
A |
G |
4: 133,318,693 (GRCm39) |
E306G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,053,194 (GRCm39) |
L359Q |
probably damaging |
Het |
| Kbtbd4 |
T |
G |
2: 90,736,240 (GRCm39) |
C84G |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,327,910 (GRCm39) |
V377A |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,828,861 (GRCm39) |
T82I |
probably damaging |
Het |
| Mtx1 |
T |
A |
3: 89,120,088 (GRCm39) |
T87S |
|
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,161,717 (GRCm39) |
|
probably null |
Het |
| Mzt1 |
C |
T |
14: 99,278,024 (GRCm39) |
C48Y |
probably damaging |
Het |
| Nlrp9b |
C |
A |
7: 19,758,295 (GRCm39) |
P511T |
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,322,088 (GRCm39) |
E135G |
probably benign |
Het |
| Nova1 |
G |
A |
12: 46,767,549 (GRCm39) |
P124L |
unknown |
Het |
| Pax8 |
T |
A |
2: 24,331,682 (GRCm39) |
T134S |
probably benign |
Het |
| Pde4a |
T |
A |
9: 21,077,300 (GRCm39) |
L26Q |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,384 (GRCm39) |
E254K |
probably damaging |
Het |
| Pdlim7 |
A |
G |
13: 55,656,744 (GRCm39) |
I70T |
probably damaging |
Het |
| Pinx1 |
T |
A |
14: 64,101,660 (GRCm39) |
|
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,177,141 (GRCm39) |
R352L |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,685,105 (GRCm39) |
V519I |
possibly damaging |
Het |
| Rnps1 |
A |
G |
17: 24,637,168 (GRCm39) |
E16G |
unknown |
Het |
| Slc4a5 |
T |
C |
6: 83,262,854 (GRCm39) |
F782S |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,707,031 (GRCm39) |
V253A |
possibly damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,544 (GRCm39) |
M32V |
possibly damaging |
Het |
| Tcaf3 |
C |
A |
6: 42,574,069 (GRCm39) |
V48L |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,512,740 (GRCm39) |
V1366A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,908,494 (GRCm39) |
M1382I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,908,501 (GRCm39) |
G1385R |
probably damaging |
Het |
| Top3a |
G |
T |
11: 60,647,206 (GRCm39) |
L238I |
probably damaging |
Het |
| Trim9 |
A |
T |
12: 70,295,117 (GRCm39) |
N742K |
probably benign |
Het |
| Trp63 |
T |
A |
16: 25,695,483 (GRCm39) |
Y482N |
unknown |
Het |
| Ttc23 |
T |
G |
7: 67,319,918 (GRCm39) |
F192V |
possibly damaging |
Het |
| Uck1 |
A |
G |
2: 32,148,184 (GRCm39) |
V180A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,318,244 (GRCm39) |
T541I |
probably damaging |
Het |
| Zfp456 |
G |
T |
13: 67,514,913 (GRCm39) |
H264Q |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,818,162 (GRCm39) |
V165G |
possibly damaging |
Het |
| Zup1 |
C |
T |
10: 33,806,151 (GRCm39) |
|
probably null |
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 |
|
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'- ACAGTGTCCTCCCAGCATCC -3'
(R):5'- TGACCTGAGGTTATTTTCATACATG -3'
Sequencing Primer
(F):5'- CTTTATGATGAGAGCCGGTATGAAC -3'
(R):5'- ACATGTGTTGTGTCTTAGCTGAATTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation