Incidental Mutation 'IGL01415:Marveld3'
| ID |
80211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Marveld3
|
| Ensembl Gene |
ENSMUSG00000001672 |
| Gene Name |
MARVEL (membrane-associating) domain containing 3 |
| Synonyms |
Mrvldc3, MARVD3, 1810006A16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110674546-110688835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110688705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 12
(T12I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001722]
[ENSMUST00000051430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001722
AA Change: T12I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: T12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
116 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000051430
AA Change: T12I
|
| SMART Domains |
Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
AA Change: T12I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
116 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
168 |
355 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155052
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
| Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
| Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
Het |
|
| Other mutations in Marveld3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Marveld3
|
APN |
8 |
110,688,596 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01341:Marveld3
|
APN |
8 |
110,675,049 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01759:Marveld3
|
APN |
8 |
110,674,719 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02012:Marveld3
|
APN |
8 |
110,674,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0732:Marveld3
|
UTSW |
8 |
110,675,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1500:Marveld3
|
UTSW |
8 |
110,675,174 (GRCm39) |
splice site |
probably null |
|
|
R1955:Marveld3
|
UTSW |
8 |
110,686,380 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2146:Marveld3
|
UTSW |
8 |
110,686,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2172:Marveld3
|
UTSW |
8 |
110,688,478 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4843:Marveld3
|
UTSW |
8 |
110,688,702 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4925:Marveld3
|
UTSW |
8 |
110,674,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5542:Marveld3
|
UTSW |
8 |
110,675,249 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6003:Marveld3
|
UTSW |
8 |
110,680,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6733:Marveld3
|
UTSW |
8 |
110,688,681 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6786:Marveld3
|
UTSW |
8 |
110,674,732 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7156:Marveld3
|
UTSW |
8 |
110,674,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Marveld3
|
UTSW |
8 |
110,686,477 (GRCm39) |
splice site |
probably null |
|
|
R7429:Marveld3
|
UTSW |
8 |
110,675,100 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7430:Marveld3
|
UTSW |
8 |
110,675,100 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7810:Marveld3
|
UTSW |
8 |
110,681,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8421:Marveld3
|
UTSW |
8 |
110,675,279 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8460:Marveld3
|
UTSW |
8 |
110,681,040 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8478:Marveld3
|
UTSW |
8 |
110,688,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Marveld3
|
UTSW |
8 |
110,688,609 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8966:Marveld3
|
UTSW |
8 |
110,675,019 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9334:Marveld3
|
UTSW |
8 |
110,675,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9465:Marveld3
|
UTSW |
8 |
110,688,525 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9763:Marveld3
|
UTSW |
8 |
110,688,375 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1088:Marveld3
|
UTSW |
8 |
110,674,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2013-11-05 |
Incidental Mutation