Incidental Mutation 'R1313:Mocs1'
ID |
500215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mocs1
|
Ensembl Gene |
ENSMUSG00000064120 |
Gene Name |
molybdenum cofactor synthesis 1 |
Synonyms |
3110045D15Rik |
MMRRC Submission |
039379-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1313 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49761297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 464
(T464S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000057610]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000174647]
|
AlphaFold |
Q5RKZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024797
|
SMART Domains |
Protein: ENSMUSP00000024797 Gene: ENSMUSG00000064120
Domain | Start | End | E-Value | Type |
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057610
|
SMART Domains |
Protein: ENSMUSP00000052085 Gene: ENSMUSG00000040260
Domain | Start | End | E-Value | Type |
Drf_GBD
|
40 |
228 |
4.89e-61 |
SMART |
Drf_FH3
|
231 |
429 |
1.19e-73 |
SMART |
Blast:FH2
|
476 |
513 |
4e-10 |
BLAST |
low complexity region
|
514 |
534 |
N/A |
INTRINSIC |
low complexity region
|
539 |
576 |
N/A |
INTRINSIC |
FH2
|
595 |
1085 |
7.36e-99 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172871
|
SMART Domains |
Protein: ENSMUSP00000134449 Gene: ENSMUSG00000064120
Domain | Start | End | E-Value | Type |
Pfam:Mob_synth_C
|
1 |
86 |
8.6e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173033
AA Change: T464S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133694 Gene: ENSMUSG00000064120 AA Change: T464S
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 |
probably benign
Transcript: ENSMUST00000173430
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224954
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.4%
- 20x: 77.6%
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
Lilrb4b |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
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 |
|
IGL00473:Mocs1
|
APN |
17 |
49,740,229 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |