Incidental Mutation 'R4861:Mvk'
| ID |
380246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mvk
|
| Ensembl Gene |
ENSMUSG00000041939 |
| Gene Name |
mevalonate kinase |
| Synonyms |
2310010A05Rik |
| MMRRC Submission |
042472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4861 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114582330-114598652 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 114598258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043760]
[ENSMUST00000112239]
[ENSMUST00000125650]
[ENSMUST00000139420]
|
| AlphaFold |
Q9R008 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043760
|
| SMART Domains |
Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
118 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
130 |
212 |
7.6e-26 |
PFAM |
|
Pfam:GHMP_kinases_C
|
291 |
365 |
2.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112239
|
| SMART Domains |
Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
142 |
224 |
1.6e-25 |
PFAM |
|
Pfam:GHMP_kinases_C
|
303 |
377 |
8.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125650
|
| SMART Domains |
Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
142 |
224 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139420
|
| SMART Domains |
Protein: ENSMUSP00000142376
Gene: ENSMUSG00000041939
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2R42|A
|
1 |
62 |
6e-30 |
PDB |
|
SCOP:d1kvka1
|
2 |
31 |
1e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 84.7%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: This gene encodes mevalonate kinase, a key enzyme involved in the biosynthesis of cholesterol and non-sterol isoprenes. The complete lack of encoded protein is lethal to mouse embryos. Mice lacking one allele of this gene exhibit increased levels of mevalonate in spleen, heart and kidney, as well as increased levels of serum immunoglobulins A and D. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
| Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
| Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
| Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
| Frmd6 |
T |
G |
12: 70,940,500 (GRCm39) |
S382A |
probably damaging |
Het |
| Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
| Mzt1 |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
| Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
| Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
| Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
| Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
| Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
| Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
| Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
probably benign |
Het |
|
| Other mutations in Mvk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Mvk
|
APN |
5 |
114,583,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01615:Mvk
|
APN |
5 |
114,584,353 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02735:Mvk
|
APN |
5 |
114,588,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0206:Mvk
|
UTSW |
5 |
114,597,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Mvk
|
UTSW |
5 |
114,598,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2511:Mvk
|
UTSW |
5 |
114,588,459 (GRCm39) |
nonsense |
probably null |
|
|
R4377:Mvk
|
UTSW |
5 |
114,591,022 (GRCm39) |
intron |
probably benign |
|
|
R4902:Mvk
|
UTSW |
5 |
114,594,060 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5073:Mvk
|
UTSW |
5 |
114,591,013 (GRCm39) |
intron |
probably benign |
|
|
R5355:Mvk
|
UTSW |
5 |
114,590,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5411:Mvk
|
UTSW |
5 |
114,597,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5637:Mvk
|
UTSW |
5 |
114,594,003 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5687:Mvk
|
UTSW |
5 |
114,588,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Mvk
|
UTSW |
5 |
114,590,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7402:Mvk
|
UTSW |
5 |
114,594,039 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8305:Mvk
|
UTSW |
5 |
114,588,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mvk
|
UTSW |
5 |
114,596,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCTCAGAAGCCACAAG -3'
(R):5'- CCAGAGAGTTTGTGTGAGGC -3'
Sequencing Primer
(F):5'- ATCCCCCAAGGCTGACTG -3'
(R):5'- ATGTGCCCATAGGAGCTCCAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation