Incidental Mutation 'IGL02012:Marveld3'
| ID |
183402 |
| 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 # |
IGL02012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110674546-110688835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110674764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 351
(V351M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001722]
[ENSMUST00000034175]
[ENSMUST00000051430]
[ENSMUST00000179721]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001722
AA Change: V351M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001722
Gene: ENSMUSG00000001672
AA Change: V351M
| 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 |
probably benign
Transcript: ENSMUST00000034175
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Blast:PH
|
148 |
247 |
3e-61 |
BLAST |
|
LRR
|
295 |
314 |
1.12e2 |
SMART |
|
Pfam:LRR_7
|
319 |
335 |
3.5e-2 |
PFAM |
|
LRR
|
341 |
363 |
2.82e0 |
SMART |
|
LRR
|
364 |
387 |
9.75e0 |
SMART |
|
LRR
|
456 |
479 |
2.68e1 |
SMART |
|
LRR
|
498 |
517 |
1.35e1 |
SMART |
|
LRR
|
521 |
540 |
5.59e1 |
SMART |
|
LRR
|
544 |
563 |
2.79e1 |
SMART |
|
LRR
|
569 |
589 |
1.62e1 |
SMART |
|
LRR
|
590 |
609 |
1.67e1 |
SMART |
|
LRR
|
616 |
641 |
1.33e2 |
SMART |
|
LRR
|
640 |
659 |
1.4e1 |
SMART |
|
LRR_TYP
|
664 |
687 |
6.78e-3 |
SMART |
|
LRR
|
709 |
733 |
2.15e2 |
SMART |
|
PP2Cc
|
772 |
1028 |
2.98e-30 |
SMART |
|
low complexity region
|
1061 |
1095 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1109 |
1175 |
8e-15 |
BLAST |
|
low complexity region
|
1297 |
1315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051430
|
| SMART Domains |
Protein: ENSMUSP00000052309
Gene: ENSMUSG00000001672
| 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 |
probably benign
Transcript: ENSMUST00000179721
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
92 |
N/A |
INTRINSIC |
|
Blast:PH
|
183 |
282 |
4e-61 |
BLAST |
|
LRR
|
330 |
349 |
1.12e2 |
SMART |
|
LRR
|
376 |
398 |
2.82e0 |
SMART |
|
LRR
|
399 |
422 |
9.75e0 |
SMART |
|
LRR
|
491 |
514 |
2.68e1 |
SMART |
|
LRR
|
533 |
552 |
1.35e1 |
SMART |
|
LRR
|
556 |
575 |
5.59e1 |
SMART |
|
LRR
|
579 |
598 |
2.79e1 |
SMART |
|
LRR
|
604 |
624 |
1.62e1 |
SMART |
|
LRR
|
625 |
644 |
1.67e1 |
SMART |
|
LRR
|
651 |
676 |
1.33e2 |
SMART |
|
LRR
|
675 |
694 |
1.4e1 |
SMART |
|
LRR_TYP
|
699 |
722 |
6.78e-3 |
SMART |
|
LRR
|
744 |
768 |
2.15e2 |
SMART |
|
PP2Cc
|
807 |
1063 |
2.98e-30 |
SMART |
|
low complexity region
|
1096 |
1130 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1144 |
1210 |
8e-15 |
BLAST |
|
low complexity region
|
1332 |
1350 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,266,214 (GRCm39) |
D309E |
possibly damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,701 (GRCm39) |
C40S |
possibly damaging |
Het |
| Cops8 |
T |
C |
1: 90,539,956 (GRCm39) |
V204A |
probably damaging |
Het |
| Cstdc5 |
T |
G |
16: 36,187,802 (GRCm39) |
D21A |
possibly damaging |
Het |
| Dchs1 |
T |
G |
7: 105,413,504 (GRCm39) |
T1104P |
probably damaging |
Het |
| Ddi2 |
A |
T |
4: 141,435,529 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
G |
A |
11: 22,051,218 (GRCm39) |
P420S |
probably damaging |
Het |
| Eif1ad |
T |
G |
19: 5,418,687 (GRCm39) |
V80G |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,577 (GRCm39) |
Y3004H |
possibly damaging |
Het |
| Fbxo11 |
C |
T |
17: 88,320,079 (GRCm39) |
R211Q |
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,810,499 (GRCm39) |
N146S |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,199,662 (GRCm39) |
N334K |
probably benign |
Het |
| Gm45234 |
C |
A |
6: 124,723,011 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,323,069 (GRCm39) |
F1157I |
probably benign |
Het |
| Jph1 |
C |
A |
1: 17,167,638 (GRCm39) |
W64L |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,126,152 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,973,894 (GRCm39) |
I390T |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,483,491 (GRCm39) |
I635M |
probably benign |
Het |
| Mycn |
A |
G |
12: 12,987,104 (GRCm39) |
L431P |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,847 (GRCm39) |
N463S |
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,158 (GRCm39) |
C182R |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,333 (GRCm39) |
V3068A |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,022 (GRCm39) |
S88T |
probably benign |
Het |
| Prx |
A |
G |
7: 27,217,326 (GRCm39) |
E748G |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,148,773 (GRCm39) |
|
probably null |
Het |
| Trmt10b |
G |
A |
4: 45,315,045 (GRCm39) |
R292H |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,529,462 (GRCm39) |
|
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,445,070 (GRCm39) |
|
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation