Incidental Mutation 'IGL00588:Mamdc2'
ID |
3220 |
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 # |
IGL00588
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
23279973-23425806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23330680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 376
(T376S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036069]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036069
AA Change: T376S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045432 Gene: ENSMUSG00000033207 AA Change: T376S
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arrdc5 |
G |
A |
17: 56,601,262 (GRCm39) |
P288S |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,916,863 (GRCm39) |
I487M |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,905,480 (GRCm39) |
D171G |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,858,917 (GRCm39) |
N530S |
probably benign |
Het |
Csn1s1 |
A |
G |
5: 87,815,118 (GRCm39) |
I5V |
probably benign |
Het |
Fam120b |
T |
A |
17: 15,622,857 (GRCm39) |
Y278* |
probably null |
Het |
Fam186a |
T |
C |
15: 99,825,572 (GRCm39) |
|
probably benign |
Het |
Fhip1a |
G |
A |
3: 85,579,925 (GRCm39) |
T760M |
probably benign |
Het |
Gimap6 |
T |
C |
6: 48,679,355 (GRCm39) |
K227R |
possibly damaging |
Het |
Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
Gm12888 |
A |
T |
4: 121,176,642 (GRCm39) |
M53K |
possibly damaging |
Het |
Klhl9 |
C |
T |
4: 88,639,056 (GRCm39) |
S395N |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,663,938 (GRCm39) |
M280T |
probably damaging |
Het |
Ly96 |
A |
G |
1: 16,776,452 (GRCm39) |
|
probably null |
Het |
Man2b1 |
C |
A |
8: 85,811,267 (GRCm39) |
|
probably null |
Het |
Ndufs8 |
G |
A |
19: 3,961,740 (GRCm39) |
R3C |
probably benign |
Het |
Prox1 |
T |
C |
1: 189,855,607 (GRCm39) |
|
probably benign |
Het |
Prrx1 |
T |
C |
1: 163,089,536 (GRCm39) |
N97S |
probably damaging |
Het |
Rfx3 |
G |
A |
19: 27,803,476 (GRCm39) |
Q270* |
probably null |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Slc1a2 |
A |
G |
2: 102,586,346 (GRCm39) |
I317V |
probably benign |
Het |
Smim15 |
T |
C |
13: 108,184,063 (GRCm39) |
L23P |
probably damaging |
Het |
Tcea3 |
A |
T |
4: 136,001,003 (GRCm39) |
N338Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,658,071 (GRCm39) |
|
probably benign |
Het |
Zfp61 |
T |
A |
7: 23,990,520 (GRCm39) |
I544F |
probably benign |
Het |
Zfp954 |
C |
T |
7: 7,118,366 (GRCm39) |
A393T |
probably benign |
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 |
|
IGL01105:Mamdc2
|
APN |
19 |
23,308,366 (GRCm39) |
missense |
probably benign |
0.36 |
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 |
2012-04-20 |