Incidental Mutation 'R9192:Mocos'
| ID |
697771 |
| 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 # |
R9192 (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 G
at 24812594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 496
(Q496R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068006]
|
| AlphaFold |
Q14CH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068006
AA Change: Q496R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: Q496R
| 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: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,354,249 (GRCm39) |
M71K |
probably benign |
Het |
| Angptl4 |
C |
T |
17: 34,000,285 (GRCm39) |
A28T |
probably benign |
Het |
| Baz1b |
T |
G |
5: 135,239,648 (GRCm39) |
N249K |
possibly damaging |
Het |
| BC035947 |
A |
T |
1: 78,475,877 (GRCm39) |
Y218* |
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,408,333 (GRCm39) |
I211V |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,889 (GRCm39) |
E365G |
probably benign |
Het |
| E2f7 |
G |
T |
10: 110,599,851 (GRCm39) |
R202L |
probably damaging |
Het |
| Fscb |
A |
C |
12: 64,520,890 (GRCm39) |
I192S |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,844 (GRCm39) |
I4526V |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,127,303 (GRCm39) |
F57I |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,003,354 (GRCm39) |
C50S |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,321,413 (GRCm39) |
V1267I |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,227,142 (GRCm39) |
D845E |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,070,679 (GRCm39) |
T473S |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,499 (GRCm39) |
I327N |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,442 (GRCm39) |
L235P |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,204,181 (GRCm39) |
E486K |
possibly damaging |
Het |
| Lhx6 |
A |
T |
2: 35,981,145 (GRCm39) |
W266R |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,810 (GRCm39) |
L65* |
probably null |
Het |
| Neb |
T |
C |
2: 52,203,847 (GRCm39) |
S285G |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,582,611 (GRCm39) |
N613S |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,138,386 (GRCm39) |
R10Q |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,352,430 (GRCm39) |
L55P |
probably damaging |
Het |
| Or4x13 |
C |
A |
2: 90,231,716 (GRCm39) |
T237N |
probably damaging |
Het |
| Or51i2 |
A |
T |
7: 103,689,875 (GRCm39) |
I291F |
possibly damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,996,294 (GRCm39) |
C119R |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,274 (GRCm39) |
V144A |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,862 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,527 (GRCm39) |
T719A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,084 (GRCm39) |
N900D |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,163 (GRCm39) |
Q73L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,204 (GRCm39) |
K835E |
unknown |
Het |
| Psmd2 |
T |
A |
16: 20,473,412 (GRCm39) |
Y158N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,243,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Rhoq |
A |
T |
17: 87,304,405 (GRCm39) |
I179F |
|
Het |
| Rnf26rt |
T |
C |
6: 76,473,566 (GRCm39) |
D350G |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,381 (GRCm39) |
I257M |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,124 (GRCm39) |
A268V |
probably benign |
Het |
| Serinc4 |
G |
A |
2: 121,287,250 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,429,807 (GRCm39) |
M605K |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,133,649 (GRCm39) |
Y516H |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,963,007 (GRCm39) |
T385A |
unknown |
Het |
| Stat6 |
G |
A |
10: 127,493,479 (GRCm39) |
R600H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,786,344 (GRCm39) |
V40A |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,224,755 (GRCm39) |
I185L |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,156,703 (GRCm39) |
L2115H |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,492 (GRCm39) |
E160G |
probably benign |
Het |
| Tle1 |
G |
T |
4: 72,036,753 (GRCm39) |
T727K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,764 (GRCm39) |
D61E |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,773,602 (GRCm39) |
R409L |
|
Het |
| Tnrc6a |
C |
A |
7: 122,789,176 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,021,416 (GRCm39) |
P1027Q |
probably damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,255 (GRCm39) |
S5265P |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,935,737 (GRCm39) |
Y399* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,172,394 (GRCm39) |
I504N |
probably damaging |
Het |
| Vmn2r5 |
G |
T |
3: 64,398,938 (GRCm39) |
C680* |
probably null |
Het |
| Zfp644 |
G |
C |
5: 106,785,829 (GRCm39) |
S239R |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,933 (GRCm39) |
G204S |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,769,588 (GRCm39) |
T1265I |
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 |
|
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 |
|
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'- TATCTGACTGATTCTAGGCGGG -3'
(R):5'- GCAGCACAGGATTTGATGGG -3'
Sequencing Primer
(F):5'- ACTGATTCTAGGCGGGTCATGTC -3'
(R):5'- TGGTGACAATGTGGGACCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation