Incidental Mutation 'R9781:Mocos'
| ID |
734085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocos
|
| Ensembl Gene |
ENSMUSG00000039616 |
| Gene Name |
molybdenum cofactor sulfurase |
| Synonyms |
1110018O12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R9781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24828939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 748
(H748L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
| AlphaFold |
Q14CH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068006
AA Change: H748L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: H748L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,519,860 (GRCm39) |
F1386L |
probably benign |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,660 (GRCm39) |
S220N |
possibly damaging |
Het |
| Ap3d1 |
A |
C |
10: 80,545,609 (GRCm39) |
L1040R |
possibly damaging |
Het |
| Bag4 |
T |
A |
8: 26,259,564 (GRCm39) |
N212Y |
probably damaging |
Het |
| Bop1 |
A |
T |
15: 76,338,041 (GRCm39) |
S610T |
probably damaging |
Het |
| Car12 |
T |
G |
9: 66,624,844 (GRCm39) |
S30A |
probably benign |
Het |
| Ccdc14 |
A |
T |
16: 34,543,984 (GRCm39) |
T829S |
possibly damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,167 (GRCm39) |
*355L |
probably null |
Het |
| Cdc14a |
A |
T |
3: 116,122,274 (GRCm39) |
I231N |
probably benign |
Het |
| Ceacam14 |
A |
T |
7: 17,549,082 (GRCm39) |
I158F |
possibly damaging |
Het |
| Clca4a |
G |
T |
3: 144,667,713 (GRCm39) |
S419R |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,960,012 (GRCm39) |
N258D |
probably benign |
Het |
| Cntn5 |
A |
C |
9: 10,048,686 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
T |
A |
9: 20,721,272 (GRCm39) |
S72C |
unknown |
Het |
| Dmbt1 |
G |
C |
7: 130,639,599 (GRCm39) |
V46L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,857,054 (GRCm39) |
S204P |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,917 (GRCm39) |
E2690G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,218,075 (GRCm39) |
L1505P |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,148,834 (GRCm39) |
L282F |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,359,528 (GRCm39) |
E313G |
unknown |
Het |
| Epc1 |
A |
T |
18: 6,455,187 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,280,004 (GRCm39) |
M304T |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,750,096 (GRCm39) |
I594F |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,828 (GRCm39) |
S809T |
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,861 (GRCm39) |
M132K |
unknown |
Het |
| Hrnr |
A |
T |
3: 93,239,696 (GRCm39) |
R3311S |
unknown |
Het |
| Jph3 |
T |
C |
8: 122,457,380 (GRCm39) |
F7L |
probably damaging |
Het |
| Med13l |
C |
T |
5: 118,868,032 (GRCm39) |
T732M |
possibly damaging |
Het |
| Mrc1 |
A |
G |
2: 14,249,100 (GRCm39) |
H212R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,310,175 (GRCm39) |
Y812F |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,710 (GRCm39) |
I296T |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,895,271 (GRCm39) |
T306I |
probably damaging |
Het |
| Nme7 |
C |
A |
1: 164,155,890 (GRCm39) |
A30E |
possibly damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,043,104 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,102 (GRCm39) |
S578G |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,297,228 (GRCm39) |
D1361E |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,720,398 (GRCm39) |
S320P |
probably damaging |
Het |
| Pex19 |
T |
A |
1: 171,956,855 (GRCm39) |
F105Y |
probably damaging |
Het |
| Pgap4 |
C |
T |
4: 49,586,890 (GRCm39) |
V93I |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,392,779 (GRCm39) |
M124K |
probably damaging |
Het |
| Phkg1 |
T |
A |
5: 129,895,807 (GRCm39) |
H148L |
probably damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,662,178 (GRCm39) |
R855L |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,665 (GRCm39) |
I3548L |
possibly damaging |
Het |
| Plce1 |
T |
G |
19: 38,513,654 (GRCm39) |
S318A |
probably damaging |
Het |
| Plcxd2 |
A |
G |
16: 45,830,117 (GRCm39) |
W35R |
probably benign |
Het |
| Prl2b1 |
T |
A |
13: 27,569,129 (GRCm39) |
E156D |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,655,170 (GRCm39) |
V599A |
probably damaging |
Het |
| Raly |
T |
C |
2: 154,699,265 (GRCm39) |
V23A |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rhbdl1 |
A |
G |
17: 26,055,443 (GRCm39) |
V48A |
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,582,543 (GRCm39) |
Q212* |
probably null |
Het |
| Sec24b |
G |
T |
3: 129,789,742 (GRCm39) |
P760T |
probably damaging |
Het |
| Septin8 |
C |
A |
11: 53,422,889 (GRCm39) |
Q33K |
probably damaging |
Het |
| Serpinb6a |
T |
C |
13: 34,109,346 (GRCm39) |
T150A |
probably benign |
Het |
| Shmt1 |
A |
T |
11: 60,692,329 (GRCm39) |
H142Q |
probably damaging |
Het |
| Slc27a3 |
G |
A |
3: 90,296,591 (GRCm39) |
S127L |
|
Het |
| Slc4a5 |
G |
A |
6: 83,239,466 (GRCm39) |
A242T |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,772 (GRCm39) |
T659I |
possibly damaging |
Het |
| Ssbp3 |
T |
C |
4: 106,905,224 (GRCm39) |
S381P |
probably damaging |
Het |
| Stxbp5l |
C |
T |
16: 37,165,485 (GRCm39) |
D78N |
probably benign |
Het |
| Suv39h2 |
G |
T |
2: 3,463,631 (GRCm39) |
Q362K |
probably benign |
Het |
| Tcerg1 |
G |
A |
18: 42,701,030 (GRCm39) |
R828Q |
probably damaging |
Het |
| Tgm2 |
T |
G |
2: 157,971,321 (GRCm39) |
D306A |
probably damaging |
Het |
| Tmem79 |
A |
G |
3: 88,239,931 (GRCm39) |
C260R |
possibly damaging |
Het |
| Ubn2 |
C |
A |
6: 38,466,190 (GRCm39) |
A508E |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,114 (GRCm39) |
F181L |
probably damaging |
Het |
| Zfp326 |
T |
C |
5: 106,062,825 (GRCm39) |
F565L |
unknown |
Het |
| Zfp62 |
T |
A |
11: 49,106,297 (GRCm39) |
C129* |
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 |
|
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 |
|
Z1176:Mocos
|
UTSW |
18 |
24,803,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCATGGCTGTATCTAAC -3'
(R):5'- CCTCTGGAGTGAGAACAACAGTC -3'
Sequencing Primer
(F):5'- ATCTAACAGGTGGGTGTGTCTTGC -3'
(R):5'- AACAGTCACTGGCAGCCTTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation