Incidental Mutation 'IGL01105:Mamdc2'
| ID |
53250 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mamdc2
|
| Ensembl Gene |
ENSMUSG00000033207 |
| Gene Name |
MAM domain containing 2 |
| Synonyms |
mamcan, 1200015L10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL01105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
23279973-23425806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23308366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 512
(D512V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036069]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036069
AA Change: D512V
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: D512V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MAM
|
21 |
169 |
3.15e-12 |
SMART |
|
MAM
|
170 |
329 |
9.26e-42 |
SMART |
|
MAM
|
337 |
498 |
1.07e-32 |
SMART |
|
MAM
|
504 |
666 |
3.55e-61 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
| Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
| Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
| Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
| Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
| Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
| Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
|
| Other mutations in Mamdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Mamdc2
|
APN |
19 |
23,356,138 (GRCm39) |
nonsense |
probably null |
|
|
IGL00588:Mamdc2
|
APN |
19 |
23,330,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02223:Mamdc2
|
APN |
19 |
23,336,507 (GRCm39) |
splice site |
probably benign |
|
|
IGL02511:Mamdc2
|
APN |
19 |
23,356,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02632:Mamdc2
|
APN |
19 |
23,308,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02832:Mamdc2
|
APN |
19 |
23,281,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0071:Mamdc2
|
UTSW |
19 |
23,280,994 (GRCm39) |
nonsense |
probably null |
|
|
R0121:Mamdc2
|
UTSW |
19 |
23,288,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0732:Mamdc2
|
UTSW |
19 |
23,356,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1023:Mamdc2
|
UTSW |
19 |
23,288,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Mamdc2
|
UTSW |
19 |
23,336,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1861:Mamdc2
|
UTSW |
19 |
23,336,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1996:Mamdc2
|
UTSW |
19 |
23,341,289 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Mamdc2
|
UTSW |
19 |
23,288,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2016:Mamdc2
|
UTSW |
19 |
23,311,393 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2266:Mamdc2
|
UTSW |
19 |
23,281,267 (GRCm39) |
splice site |
probably benign |
|
|
R2267:Mamdc2
|
UTSW |
19 |
23,281,267 (GRCm39) |
splice site |
probably benign |
|
|
R2269:Mamdc2
|
UTSW |
19 |
23,281,267 (GRCm39) |
splice site |
probably benign |
|
|
R3085:Mamdc2
|
UTSW |
19 |
23,288,296 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4235:Mamdc2
|
UTSW |
19 |
23,351,381 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4672:Mamdc2
|
UTSW |
19 |
23,328,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Mamdc2
|
UTSW |
19 |
23,356,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5084:Mamdc2
|
UTSW |
19 |
23,336,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5521:Mamdc2
|
UTSW |
19 |
23,288,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Mamdc2
|
UTSW |
19 |
23,330,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Mamdc2
|
UTSW |
19 |
23,341,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6557:Mamdc2
|
UTSW |
19 |
23,288,209 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6676:Mamdc2
|
UTSW |
19 |
23,280,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7218:Mamdc2
|
UTSW |
19 |
23,424,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:Mamdc2
|
UTSW |
19 |
23,328,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7627:Mamdc2
|
UTSW |
19 |
23,288,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8101:Mamdc2
|
UTSW |
19 |
23,311,393 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9679:Mamdc2
|
UTSW |
19 |
23,351,380 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Mamdc2
|
UTSW |
19 |
23,311,421 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Posted On |
2013-06-21 |
Incidental Mutation