Incidental Mutation 'IGL02822:Mocs1'
| ID |
361057 |
| 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 # |
IGL02822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49746597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 189
(F189S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000165390]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000174647]
|
| AlphaFold |
Q5RKZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024797
AA Change: F189S
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
AA Change: F189S
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165390
|
| SMART Domains |
Protein: ENSMUSP00000132371
Gene: ENSMUSG00000064120
| 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 |
possibly damaging
Transcript: ENSMUST00000173033
AA Change: F189S
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: F189S
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Pfam:MoaC
|
493 |
628 |
6.1e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173362
AA Change: F189S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120
AA Change: F189S
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
C |
16: 88,971,683 (GRCm39) |
C2R |
unknown |
Het |
| Aldh1a7 |
A |
G |
19: 20,679,630 (GRCm39) |
V382A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,911 (GRCm39) |
V943A |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,951,688 (GRCm39) |
V2908M |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,630,017 (GRCm39) |
T471I |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,262,968 (GRCm39) |
Y57C |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,600 (GRCm39) |
Y405H |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,520 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
C |
8: 4,237,248 (GRCm39) |
I117T |
probably damaging |
Het |
| Fbxw5 |
A |
G |
2: 25,393,022 (GRCm39) |
N164S |
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,789 (GRCm39) |
E388G |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,818 (GRCm39) |
T55A |
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,621,131 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,422,442 (GRCm39) |
V137D |
probably damaging |
Het |
| Hsdl2 |
A |
G |
4: 59,601,379 (GRCm39) |
H117R |
possibly damaging |
Het |
| Htr4 |
T |
A |
18: 62,561,255 (GRCm39) |
|
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,191 (GRCm39) |
V8A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,288 (GRCm39) |
|
probably benign |
Het |
| Klra6 |
G |
T |
6: 129,993,673 (GRCm39) |
Y199* |
probably null |
Het |
| Matcap1 |
T |
C |
8: 106,011,330 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mmp21 |
C |
T |
7: 133,277,828 (GRCm39) |
D333N |
possibly damaging |
Het |
| Myo18b |
C |
T |
5: 112,923,211 (GRCm39) |
A1849T |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,875,214 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
T |
3: 55,926,868 (GRCm39) |
H778Q |
possibly damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,068,726 (GRCm39) |
P209L |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,019 (GRCm39) |
D276G |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,534 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,444 (GRCm39) |
L84P |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,930,118 (GRCm39) |
S258P |
probably damaging |
Het |
| Pclaf |
A |
G |
9: 65,808,875 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,917 (GRCm39) |
T549S |
possibly damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,285,517 (GRCm39) |
C699F |
probably damaging |
Het |
| Pnkp |
A |
G |
7: 44,511,848 (GRCm39) |
Y120C |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,204 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,587,606 (GRCm39) |
S720P |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,400,633 (GRCm39) |
H301R |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,905,015 (GRCm39) |
W1316L |
probably damaging |
Het |
| Ube2t |
C |
T |
1: 134,901,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation