Incidental Mutation 'PIT4810001:Mocos'
| ID |
556883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocos
|
| Ensembl Gene |
ENSMUSG00000039616 |
| Gene Name |
molybdenum cofactor sulfurase |
| Synonyms |
1110018O12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
PIT4810001 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24819759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 667
(D667G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
| AlphaFold |
Q14CH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: D667G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: D667G
| 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: 93.8%
- 3x: 91.1%
- 10x: 85.1%
- 20x: 72.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,822 (GRCm39) |
S105P |
probably damaging |
Het |
| Adtrp |
C |
T |
13: 41,981,724 (GRCm39) |
W48* |
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,399,151 (GRCm39) |
M413L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,214 (GRCm39) |
D211V |
|
Het |
| Aplnr |
T |
A |
2: 84,967,628 (GRCm39) |
C218S |
probably damaging |
Het |
| Arhgdib |
T |
A |
6: 136,901,162 (GRCm39) |
E189V |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,463,596 (GRCm39) |
I1043T |
probably damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,133,382 (GRCm39) |
C468Y |
probably damaging |
Het |
| Cars2 |
A |
T |
8: 11,564,699 (GRCm39) |
C459S |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,645 (GRCm39) |
Y327N |
probably benign |
Het |
| Ceacam1 |
T |
A |
7: 25,171,400 (GRCm39) |
I355F |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,722,932 (GRCm39) |
L2773P |
probably damaging |
Het |
| Ces2g |
A |
T |
8: 105,691,521 (GRCm39) |
H192L |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,671,444 (GRCm39) |
F121L |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,234 (GRCm39) |
S464N |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,735,135 (GRCm39) |
L990Q |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,706,516 (GRCm39) |
L2806Q |
unknown |
Het |
| Cpz |
T |
C |
5: 35,665,536 (GRCm39) |
E435G |
possibly damaging |
Het |
| Crbn |
T |
A |
6: 106,761,440 (GRCm39) |
R233* |
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,913,352 (GRCm39) |
T116I |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,574 (GRCm39) |
S314P |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,065,030 (GRCm39) |
E2625G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,796 (GRCm39) |
R1874* |
probably null |
Het |
| E130311K13Rik |
A |
T |
3: 63,823,122 (GRCm39) |
L174* |
probably null |
Het |
| Etnppl |
A |
G |
3: 130,414,363 (GRCm39) |
D86G |
probably benign |
Het |
| Fbxw18 |
C |
A |
9: 109,505,958 (GRCm39) |
E438* |
probably null |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Gpr155 |
A |
C |
2: 73,178,607 (GRCm39) |
L727R |
probably benign |
Het |
| Gpr158 |
C |
G |
2: 21,831,682 (GRCm39) |
D927E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,225,903 (GRCm39) |
Y2590C |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,328,348 (GRCm39) |
D207G |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,647,473 (GRCm39) |
L743P |
probably damaging |
Het |
| Kansl1l |
A |
T |
1: 66,801,308 (GRCm39) |
S553T |
probably damaging |
Het |
| Klhl14 |
G |
T |
18: 21,690,880 (GRCm39) |
Y523* |
probably null |
Het |
| Krtap14 |
A |
G |
16: 88,622,515 (GRCm39) |
S155P |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,273 (GRCm38) |
V111A |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,531,320 (GRCm39) |
N178S |
|
Het |
| Megf8 |
G |
A |
7: 25,041,710 (GRCm39) |
C1208Y |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,860,158 (GRCm39) |
T1359A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,007,106 (GRCm39) |
E1357G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,766 (GRCm39) |
M278K |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,297 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,876 (GRCm39) |
F212I |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,487 (GRCm39) |
V447A |
possibly damaging |
Het |
| Pomp |
T |
C |
5: 147,806,229 (GRCm39) |
L57P |
probably benign |
Het |
| Pou2af2 |
C |
T |
9: 51,202,992 (GRCm39) |
G54D |
possibly damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,861 (GRCm39) |
Y128F |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,228 (GRCm39) |
F322L |
probably benign |
Het |
| Slc16a9 |
T |
A |
10: 70,119,762 (GRCm39) |
C468* |
probably null |
Het |
| Slc22a18 |
A |
G |
7: 143,046,668 (GRCm39) |
I271V |
probably benign |
Het |
| Slc25a41 |
A |
G |
17: 57,346,933 (GRCm39) |
V20A |
possibly damaging |
Het |
| Smim7 |
A |
T |
8: 73,324,857 (GRCm39) |
L6Q |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,218,845 (GRCm39) |
V227A |
probably damaging |
Het |
| Sowaha |
A |
T |
11: 53,369,290 (GRCm39) |
L482Q |
probably damaging |
Het |
| Srp19 |
A |
G |
18: 34,467,523 (GRCm39) |
Y68C |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,884 (GRCm39) |
S298P |
probably damaging |
Het |
| Terb2 |
T |
A |
2: 122,035,379 (GRCm39) |
I200N |
probably damaging |
Het |
| Togaram1 |
G |
A |
12: 65,030,286 (GRCm39) |
S1030N |
probably damaging |
Het |
| Trav7n-4 |
A |
G |
14: 53,329,193 (GRCm39) |
M68V |
probably benign |
Het |
| Tshz1 |
A |
C |
18: 84,031,375 (GRCm39) |
L1011R |
possibly damaging |
Het |
| Tubb3 |
A |
G |
8: 124,148,396 (GRCm39) |
E443G |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,932,396 (GRCm39) |
I189K |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,909 (GRCm39) |
T619A |
probably benign |
Het |
| Wbp1l |
A |
G |
19: 46,642,761 (GRCm39) |
D254G |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,741,571 (GRCm39) |
F738L |
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 |
|
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 |
|
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'- TAGAGCCAGCCACTTTCCTC -3'
(R):5'- AGCCCTTGGGAGTCATAAGTAG -3'
Sequencing Primer
(F):5'- TCCTCATCTAATCAAATCCCAGTG -3'
(R):5'- CCCTTGGGAGTCATAAGTAGTGAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation