Incidental Mutation 'IGL01565:Mocs1'
ID |
90973 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mocs1
|
Ensembl Gene |
ENSMUSG00000064120 |
Gene Name |
molybdenum cofactor synthesis 1 |
Synonyms |
3110045D15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01565
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 49759348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 364
(R364Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000174647]
|
AlphaFold |
Q5RKZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024797
AA Change: R364Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000024797 Gene: ENSMUSG00000064120 AA Change: R364Q
Domain | Start | End | E-Value | Type |
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000172871
AA Change: R81Q
|
SMART Domains |
Protein: ENSMUSP00000134449 Gene: ENSMUSG00000064120 AA Change: R81Q
Domain | Start | End | E-Value | Type |
Pfam:Mob_synth_C
|
1 |
86 |
8.6e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173033
AA Change: R364Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000133694 Gene: ENSMUSG00000064120 AA Change: R364Q
Domain | Start | End | E-Value | Type |
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
Pfam:MoaC
|
493 |
628 |
6.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173362
|
SMART Domains |
Protein: ENSMUSP00000134265 Gene: ENSMUSG00000064120
Domain | Start | End | E-Value | Type |
Pfam:Fer4_12
|
67 |
197 |
5.8e-11 |
PFAM |
Pfam:Radical_SAM
|
74 |
199 |
2.5e-22 |
PFAM |
Pfam:Fer4_14
|
75 |
180 |
2.5e-9 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173430
AA Change: R12Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
Other mutations in Mocs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Mocs1
|
APN |
17 |
49,742,292 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00473:Mocs1
|
APN |
17 |
49,740,229 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02822:Mocs1
|
APN |
17 |
49,746,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R0321:Mocs1
|
UTSW |
17 |
49,740,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1313:Mocs1
|
UTSW |
17 |
49,761,297 (GRCm39) |
missense |
probably benign |
0.00 |
R1313:Mocs1
|
UTSW |
17 |
49,761,297 (GRCm39) |
missense |
probably benign |
0.00 |
R2155:Mocs1
|
UTSW |
17 |
49,761,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Mocs1
|
UTSW |
17 |
49,756,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R2398:Mocs1
|
UTSW |
17 |
49,759,862 (GRCm39) |
missense |
probably damaging |
0.99 |
R4669:Mocs1
|
UTSW |
17 |
49,761,613 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5566:Mocs1
|
UTSW |
17 |
49,761,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5751:Mocs1
|
UTSW |
17 |
49,756,766 (GRCm39) |
splice site |
probably null |
|
R6061:Mocs1
|
UTSW |
17 |
49,757,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Mocs1
|
UTSW |
17 |
49,761,764 (GRCm39) |
missense |
probably benign |
0.06 |
R6212:Mocs1
|
UTSW |
17 |
49,742,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Mocs1
|
UTSW |
17 |
49,742,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7047:Mocs1
|
UTSW |
17 |
49,759,887 (GRCm39) |
critical splice donor site |
probably null |
|
R7270:Mocs1
|
UTSW |
17 |
49,756,143 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7395:Mocs1
|
UTSW |
17 |
49,761,585 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7522:Mocs1
|
UTSW |
17 |
49,742,292 (GRCm39) |
critical splice donor site |
probably null |
|
R7872:Mocs1
|
UTSW |
17 |
49,746,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7953:Mocs1
|
UTSW |
17 |
49,761,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7954:Mocs1
|
UTSW |
17 |
49,761,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8119:Mocs1
|
UTSW |
17 |
49,756,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Mocs1
|
UTSW |
17 |
49,757,402 (GRCm39) |
critical splice donor site |
probably null |
|
R9007:Mocs1
|
UTSW |
17 |
49,756,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9179:Mocs1
|
UTSW |
17 |
49,740,303 (GRCm39) |
missense |
probably damaging |
0.98 |
R9181:Mocs1
|
UTSW |
17 |
49,756,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2013-12-09 |