Incidental Mutation 'R6733:Marveld3'
ID |
530147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marveld3
|
Ensembl Gene |
ENSMUSG00000001672 |
Gene Name |
MARVEL (membrane-associating) domain containing 3 |
Synonyms |
Mrvldc3, MARVD3, 1810006A16Rik |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
110674546-110688835 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110688681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 20
(D20G)
|
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: D20G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001722 Gene: ENSMUSG00000001672 AA Change: D20G
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: D20G
|
SMART Domains |
Protein: ENSMUSP00000052309 Gene: ENSMUSG00000001672 AA Change: D20G
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
IGL01415:Marveld3
|
APN |
8 |
110,688,705 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGGCTCTTTGTTCGGATG -3'
(R):5'- AGGACTGACATCTATTTCAGCAAG -3'
Sequencing Primer
(F):5'- TTCGGATGCGCGATGGC -3'
(R):5'- CTGACATCTATTTCAGCAAGAATCC -3'
|
Posted On |
2018-08-01 |