Incidental Mutation 'R7616:Mamdc2'
ID |
588942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mamdc2
|
Ensembl Gene |
ENSMUSG00000033207 |
Gene Name |
MAM domain containing 2 |
Synonyms |
mamcan, 1200015L10Rik |
MMRRC Submission |
045716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R7616 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
23279973-23425806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23328168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 400
(Y400F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036069]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036069
AA Change: Y400F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045432 Gene: ENSMUSG00000033207 AA Change: Y400F
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,629,993 (GRCm39) |
R142G |
possibly damaging |
Het |
Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
Clip4 |
T |
C |
17: 72,141,268 (GRCm39) |
Y541H |
probably benign |
Het |
Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
Fam120b |
T |
G |
17: 15,623,098 (GRCm39) |
S359A |
possibly damaging |
Het |
Ffar2 |
A |
G |
7: 30,519,357 (GRCm39) |
L61P |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATTTCCGCTTGCATCCAAAC -3'
(R):5'- AGCTCATTCTACATTGGTGTTGC -3'
Sequencing Primer
(F):5'- TTGCATCCAAACACCCCTCG -3'
(R):5'- ATACAGCTCCTTATGTTGTAGGGACC -3'
|
Posted On |
2019-10-24 |