Incidental Mutation 'R5661:Mocos'
ID |
444110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mocos
|
Ensembl Gene |
ENSMUSG00000039616 |
Gene Name |
molybdenum cofactor sulfurase |
Synonyms |
1110018O12Rik |
MMRRC Submission |
043304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R5661 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 24799052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
AlphaFold |
Q14CH1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068006
|
SMART Domains |
Protein: ENSMUSP00000063609 Gene: ENSMUSG00000039616
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
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 |
|
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'- TGTGTCCAAGCAGAGATGGG -3'
(R):5'- ATGTGACACTCATGGCTGCAG -3'
Sequencing Primer
(F):5'- GCTCCAGAGGCAAGAAGTTTAAATTC -3'
(R):5'- TTCCTCATTCCCACCACAGAGG -3'
|
Posted On |
2016-11-09 |