Incidental Mutation 'R1351:Mocos'
| ID |
156678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocos
|
| Ensembl Gene |
ENSMUSG00000039616 |
| Gene Name |
molybdenum cofactor sulfurase |
| Synonyms |
1110018O12Rik |
| MMRRC Submission |
039416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R1351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
24786748-24834632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24793107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 68
(F68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
| AlphaFold |
Q14CH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068006
AA Change: F68S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: F68S
| 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 |
0.3017 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (51/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
A |
G |
3: 62,288,262 (GRCm39) |
E444G |
probably damaging |
Het |
| Astl |
G |
A |
2: 127,189,105 (GRCm39) |
V144M |
possibly damaging |
Het |
| AW146154 |
A |
T |
7: 41,129,878 (GRCm39) |
C413S |
probably damaging |
Het |
| Bicdl2 |
G |
A |
17: 23,886,519 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,610,925 (GRCm39) |
S624R |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cep126 |
C |
T |
9: 8,100,087 (GRCm39) |
E816K |
probably damaging |
Het |
| Cyp2j13 |
T |
C |
4: 95,945,155 (GRCm39) |
K291R |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,349,737 (GRCm39) |
M181K |
unknown |
Het |
| Dicer1 |
G |
A |
12: 104,695,401 (GRCm39) |
R177C |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,673,287 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ermap |
C |
T |
4: 119,038,558 (GRCm39) |
|
probably null |
Het |
| Fcamr |
C |
T |
1: 130,740,757 (GRCm39) |
T392I |
possibly damaging |
Het |
| Fgf3 |
T |
C |
7: 144,394,517 (GRCm39) |
|
probably benign |
Het |
| Gpr162 |
T |
C |
6: 124,838,161 (GRCm39) |
Y163C |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,230 (GRCm39) |
R226G |
possibly damaging |
Het |
| Hapln3 |
A |
C |
7: 78,771,708 (GRCm39) |
S60R |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,987,235 (GRCm39) |
S443P |
probably benign |
Het |
| Irf2bpl |
A |
G |
12: 86,929,398 (GRCm39) |
M425T |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,359,469 (GRCm39) |
A5S |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,244,901 (GRCm39) |
L850S |
possibly damaging |
Het |
| Mios |
T |
A |
6: 8,228,120 (GRCm39) |
M679K |
possibly damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,523 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,452,564 (GRCm39) |
D146E |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,651,627 (GRCm39) |
F32L |
probably benign |
Het |
| Pde4d |
G |
T |
13: 110,087,809 (GRCm39) |
E562D |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,518,691 (GRCm39) |
K246E |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,884,574 (GRCm39) |
|
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,162 (GRCm39) |
C324S |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,485,564 (GRCm39) |
L464F |
possibly damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,863 (GRCm39) |
H749R |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,597,863 (GRCm39) |
N218S |
possibly damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,531 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,001,567 (GRCm39) |
Y1674D |
possibly damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,611 (GRCm39) |
H386R |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,440,210 (GRCm39) |
V752A |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,883,334 (GRCm39) |
D314G |
possibly damaging |
Het |
| Spata2l |
G |
A |
8: 123,960,072 (GRCm39) |
R406C |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,264,733 (GRCm39) |
|
probably benign |
Het |
| Tent4b |
C |
A |
8: 88,927,002 (GRCm39) |
Y137* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,102,423 (GRCm39) |
E107G |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,230,073 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,031,463 (GRCm39) |
T826A |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,482,683 (GRCm39) |
V1620E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,389,549 (GRCm39) |
D217A |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,016,798 (GRCm39) |
G768R |
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 |
|
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'- AGGCTGGCAAGAGAGCTGCTTATC -3'
(R):5'- AGCTGGGACTTTCTACCTCAGACAC -3'
Sequencing Primer
(F):5'- tgggtaggcggaggcag -3'
(R):5'- CCCCATGTTCTCCATGAATCCAA -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation