Incidental Mutation 'R1074:Medag'
| ID |
85564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Medag
|
| Ensembl Gene |
ENSMUSG00000029659 |
| Gene Name |
mesenteric estrogen dependent adipogenesis |
| Synonyms |
MEDA-4, 6330406I15Rik |
| MMRRC Submission |
039160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
149335214-149355188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 149335674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 78
(V78L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093110]
[ENSMUST00000201083]
|
| AlphaFold |
Q14BA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093110
AA Change: V78L
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090798
Gene: ENSMUSG00000029659
AA Change: V78L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201641
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,421 (GRCm39) |
S98P |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,566,113 (GRCm39) |
Q269* |
probably null |
Het |
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,417 (GRCm39) |
N603Y |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,906,274 (GRCm39) |
E143G |
probably damaging |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,098,047 (GRCm39) |
V286A |
probably benign |
Het |
| Fam117b |
C |
T |
1: 59,997,485 (GRCm39) |
A279V |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,085,541 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
C |
T |
3: 100,563,402 (GRCm39) |
R81H |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,566,219 (GRCm39) |
H612Y |
probably damaging |
Het |
| Nab2 |
G |
A |
10: 127,499,124 (GRCm39) |
Q385* |
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Or10p1 |
T |
C |
10: 129,444,335 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,331 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,958,140 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,950,160 (GRCm39) |
R1286* |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,826,069 (GRCm39) |
D308G |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,988,955 (GRCm39) |
E268G |
probably damaging |
Het |
| Pzp |
T |
A |
6: 128,464,887 (GRCm39) |
N1329I |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,970,194 (GRCm39) |
T264A |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,307 (GRCm39) |
K958E |
probably benign |
Het |
| Srarp |
T |
A |
4: 141,160,707 (GRCm39) |
D42V |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,311,380 (GRCm39) |
H679L |
probably damaging |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,626,217 (GRCm39) |
D73G |
probably benign |
Het |
| Zfp512b |
A |
T |
2: 181,230,972 (GRCm39) |
S374R |
probably damaging |
Het |
|
| Other mutations in Medag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Medag
|
APN |
5 |
149,353,372 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02531:Medag
|
APN |
5 |
149,345,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02817:Medag
|
APN |
5 |
149,350,503 (GRCm39) |
nonsense |
probably null |
|
|
3-1:Medag
|
UTSW |
5 |
149,350,750 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4494001:Medag
|
UTSW |
5 |
149,350,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Medag
|
UTSW |
5 |
149,345,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Medag
|
UTSW |
5 |
149,353,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1999:Medag
|
UTSW |
5 |
149,350,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Medag
|
UTSW |
5 |
149,350,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Medag
|
UTSW |
5 |
149,350,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Medag
|
UTSW |
5 |
149,345,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Medag
|
UTSW |
5 |
149,335,444 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R5218:Medag
|
UTSW |
5 |
149,345,719 (GRCm39) |
splice site |
probably benign |
|
|
R5593:Medag
|
UTSW |
5 |
149,350,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5700:Medag
|
UTSW |
5 |
149,345,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6043:Medag
|
UTSW |
5 |
149,345,672 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7009:Medag
|
UTSW |
5 |
149,350,708 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8953:Medag
|
UTSW |
5 |
149,350,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Medag
|
UTSW |
5 |
149,335,459 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Medag
|
UTSW |
5 |
149,350,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCGGGACAGACCACAGATTTAC -3'
(R):5'- TTCTCAGCAAAACGCCCTAGTTACC -3'
Sequencing Primer
(F):5'- CAGAGCCACAGCCTGAGTATG -3'
(R):5'- AACGCCCTAGTTACCTGCTTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation