Incidental Mutation 'R6157:Mocs1'
| ID |
489666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mocs1
|
| Ensembl Gene |
ENSMUSG00000064120 |
| Gene Name |
molybdenum cofactor synthesis 1 |
| Synonyms |
3110045D15Rik |
| MMRRC Submission |
044304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
49735390-49762463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49761764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 619
(E619D)
|
| 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: E619D
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: E619D
| 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
|
| Meta Mutation Damage Score |
0.0661 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
93% (40/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
| Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
| Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
| Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
| Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
| Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
| Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
| Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
| Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
| Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
| Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
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 |
|
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'- CTAACCAGTCAGTTGATCCCC -3'
(R):5'- CCTCACAGGTTAGTGGTAAAGAG -3'
Sequencing Primer
(F):5'- TGAGCCACGTGCAGGTACAC -3'
(R):5'- GACAGGGTGATCCTAGGTCTAATCAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation