Incidental Mutation 'R7627:Mamdc2'
ID |
589523 |
Institutional Source |
Beutler Lab
|
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 # |
R7627 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
23279973-23425806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 23288355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 561
(M561K)
|
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: M561K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045432 Gene: ENSMUSG00000033207 AA Change: M561K
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
Slco1a7 |
C |
T |
6: 141,690,271 (GRCm39) |
V161I |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
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 |
R7616:Mamdc2
|
UTSW |
19 |
23,328,168 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TATTCAACCAGTGCCCGCAG -3'
(R):5'- TGTGGTCTAATCCTTGCAGC -3'
Sequencing Primer
(F):5'- AGGAGATGCTCTGCTCTCC -3'
(R):5'- GAAAATACGCTGGGCTCT -3'
|
Posted On |
2019-10-24 |