Incidental Mutation 'R6557:Mamdc2'
| ID |
521929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc2
|
| Ensembl Gene |
ENSMUSG00000033207 |
| Gene Name |
MAM domain containing 2 |
| Synonyms |
mamcan, 1200015L10Rik |
| MMRRC Submission |
044681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6557 (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 G
at 23288209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 610
(S610P)
|
| 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: S610P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: S610P
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccn3 |
A |
T |
15: 54,611,323 (GRCm39) |
R153* |
probably null |
Het |
| Cxcl15 |
C |
T |
5: 90,942,425 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,163,366 (GRCm39) |
D1580G |
probably damaging |
Het |
| Gpc5 |
A |
T |
14: 115,329,966 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,760,384 (GRCm39) |
I575V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,491,231 (GRCm39) |
E174G |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,573 (GRCm39) |
D300G |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,036,784 (GRCm39) |
T336A |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,407,707 (GRCm39) |
A45T |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,875,956 (GRCm39) |
S483G |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,365,599 (GRCm39) |
L1394P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,670 (GRCm39) |
E133V |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,396,991 (GRCm39) |
V128A |
probably damaging |
Het |
| Mon2 |
C |
A |
10: 122,852,307 (GRCm39) |
C1022F |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,845,986 (GRCm39) |
S1039P |
probably benign |
Het |
| Or4f52 |
T |
C |
2: 111,061,976 (GRCm39) |
H54R |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,134 (GRCm39) |
N879S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,136,736 (GRCm39) |
Y490H |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,128,291 (GRCm39) |
K137R |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,577,960 (GRCm39) |
N290S |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,907,092 (GRCm39) |
P419Q |
probably damaging |
Het |
| Zzz3 |
T |
A |
3: 152,134,097 (GRCm39) |
L385Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCGTTCACTGCTTAGAGTTAATC -3'
(R):5'- TGTACATCGAAGCCTCCCAC -3'
Sequencing Primer
(F):5'- GCCTTTATCTCTGACTCTGAAAAAGG -3'
(R):5'- AAGCCTCCCACATGGTGTATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation