Incidental Mutation 'IGL00473:Mocs1'
ID |
12054 |
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 # |
IGL00473
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49740229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 52
(E52G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000165390]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000174647]
|
AlphaFold |
Q5RKZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024797
AA Change: E52G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000024797 Gene: ENSMUSG00000064120 AA Change: E52G
Domain | Start | End | E-Value | Type |
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165390
AA Change: E52G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000132371 Gene: ENSMUSG00000064120 AA Change: E52G
Domain | Start | End | E-Value | Type |
Pfam:Fer4_12
|
67 |
142 |
8.8e-9 |
PFAM |
Pfam:Fer4_14
|
74 |
141 |
5.8e-8 |
PFAM |
Pfam:Radical_SAM
|
74 |
143 |
2.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173033
AA Change: E52G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133694 Gene: ENSMUSG00000064120 AA Change: E52G
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
AA Change: E52G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134265 Gene: ENSMUSG00000064120 AA Change: E52G
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 |
noncoding transcript
Transcript: ENSMUST00000174268
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arcn1 |
A |
G |
9: 44,668,444 (GRCm39) |
V264A |
probably benign |
Het |
Asap1 |
T |
C |
15: 64,045,064 (GRCm39) |
|
probably benign |
Het |
Brpf1 |
A |
C |
6: 113,293,645 (GRCm39) |
Q571H |
probably damaging |
Het |
C9orf72 |
C |
T |
4: 35,213,616 (GRCm39) |
G178E |
possibly damaging |
Het |
Creb3 |
G |
T |
4: 43,565,517 (GRCm39) |
R232L |
probably benign |
Het |
Cst5 |
G |
T |
2: 149,247,293 (GRCm39) |
S3I |
unknown |
Het |
Cyp4a14 |
A |
G |
4: 115,347,149 (GRCm39) |
|
probably benign |
Het |
Daxx |
C |
T |
17: 34,130,581 (GRCm39) |
Q199* |
probably null |
Het |
Eml5 |
A |
G |
12: 98,771,751 (GRCm39) |
|
probably benign |
Het |
Gbp6 |
T |
A |
5: 105,422,145 (GRCm39) |
K520* |
probably null |
Het |
Gcfc2 |
T |
A |
6: 81,921,355 (GRCm39) |
C454S |
probably damaging |
Het |
Gm9894 |
T |
A |
13: 67,913,236 (GRCm39) |
|
noncoding transcript |
Het |
Gpr15 |
C |
T |
16: 58,538,441 (GRCm39) |
C216Y |
probably damaging |
Het |
Gzmn |
T |
C |
14: 56,404,436 (GRCm39) |
K134E |
probably benign |
Het |
Kat2b |
T |
G |
17: 53,970,651 (GRCm39) |
I679S |
possibly damaging |
Het |
Klhl10 |
A |
G |
11: 100,347,240 (GRCm39) |
Y478C |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,178,009 (GRCm39) |
D54G |
probably damaging |
Het |
Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
Prdm6 |
T |
A |
18: 53,673,357 (GRCm39) |
F172L |
probably benign |
Het |
Prl7b1 |
A |
T |
13: 27,788,573 (GRCm39) |
V94D |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,975,387 (GRCm39) |
T1116A |
probably benign |
Het |
Rreb1 |
A |
T |
13: 38,114,767 (GRCm39) |
K709* |
probably null |
Het |
Ruvbl1 |
A |
T |
6: 88,468,550 (GRCm39) |
R357W |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,273,579 (GRCm39) |
L973P |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,023 (GRCm39) |
Y234C |
probably damaging |
Het |
Synrg |
G |
A |
11: 83,930,072 (GRCm39) |
M1070I |
probably damaging |
Het |
Zan |
A |
T |
5: 137,462,512 (GRCm39) |
I889K |
possibly damaging |
Het |
Zbtb40 |
G |
A |
4: 136,714,651 (GRCm39) |
T1046M |
probably damaging |
Het |
Zfp978 |
A |
G |
4: 147,475,317 (GRCm39) |
N288S |
probably benign |
Het |
Zfpm2 |
A |
T |
15: 40,962,683 (GRCm39) |
K247M |
probably damaging |
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 |
|
IGL01565:Mocs1
|
APN |
17 |
49,759,348 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2012-12-06 |