Incidental Mutation 'IGL01615:Mvk'
| ID |
92359 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mvk
|
| Ensembl Gene |
ENSMUSG00000041939 |
| Gene Name |
mevalonate kinase |
| Synonyms |
2310010A05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114582330-114598652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114584353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 71
(D71G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031560]
[ENSMUST00000043760]
[ENSMUST00000112239]
[ENSMUST00000112245]
[ENSMUST00000123256]
[ENSMUST00000124260]
[ENSMUST00000137167]
[ENSMUST00000125650]
|
| AlphaFold |
Q9R008 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031560
|
| SMART Domains |
Protein: ENSMUSP00000031560
Gene: ENSMUSG00000029575
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Cob_adeno_trans
|
52 |
221 |
9.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043760
AA Change: D71G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
AA Change: D71G
| 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
AA Change: D71G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
AA Change: D71G
| 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 |
probably benign
Transcript: ENSMUST00000112245
|
| SMART Domains |
Protein: ENSMUSP00000107864
Gene: ENSMUSG00000029575
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Cob_adeno_trans
|
52 |
111 |
1.4e-16 |
PFAM |
|
Pfam:Cob_adeno_trans
|
108 |
165 |
1.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123256
|
| SMART Domains |
Protein: ENSMUSP00000142979
Gene: ENSMUSG00000029575
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:Cob_adeno_trans
|
52 |
220 |
4.7e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124260
AA Change: D71G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143347
Gene: ENSMUSG00000041939
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
142 |
224 |
5.9e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137167
AA Change: D71G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142758
Gene: ENSMUSG00000041939
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
118 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
130 |
212 |
5.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125650
AA Change: D71G
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939
AA Change: D71G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
Pfam:GHMP_kinases_N
|
142 |
224 |
1.3e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
| C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
| Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
| Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
T |
19: 43,460,375 (GRCm39) |
S706C |
probably benign |
Het |
| Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
| Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
| Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
| Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
| Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
| Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
| Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
| Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
| Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
| Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
| Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
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 |
|
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 |
|
|
R4861:Mvk
|
UTSW |
5 |
114,598,258 (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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation