Incidental Mutation 'R5751:Mocs1'
| ID |
462725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocs1
|
| Ensembl Gene |
ENSMUSG00000064120 |
| Gene Name |
molybdenum cofactor synthesis 1 |
| Synonyms |
3110045D15Rik |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 49756766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024797]
[ENSMUST00000024797]
[ENSMUST00000024797]
[ENSMUST00000173033]
[ENSMUST00000173033]
[ENSMUST00000173033]
[ENSMUST00000173362]
[ENSMUST00000173362]
[ENSMUST00000173362]
[ENSMUST00000174647]
[ENSMUST00000174647]
[ENSMUST00000174647]
|
| AlphaFold |
Q5RKZ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024797
|
| SMART Domains |
Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000024797
|
| SMART Domains |
Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000024797
|
| SMART Domains |
Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000173033
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Pfam:MoaC
|
493 |
628 |
6.1e-49 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173033
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
| Domain | Start | End | E-Value | Type |
|---|
|
Elp3
|
70 |
273 |
1.63e-8 |
SMART |
|
Pfam:MoaC
|
493 |
628 |
6.1e-49 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173033
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
| 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: 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: 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 null
Transcript: ENSMUST00000173430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174647
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GACGTGCGCTTCATTGAGTAC -3'
(R):5'- AACTCTGATGATGGCAGGACC -3'
Sequencing Primer
(F):5'- CATTGAGTACATGCCATTTGACGG -3'
(R):5'- GGACCATCCCCCAGGTCTAC -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation