Incidental Mutation 'R3903:Amd1'
| ID |
309266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amd1
|
| Ensembl Gene |
ENSMUSG00000075232 |
| Gene Name |
S-adenosylmethionine decarboxylase 1 |
| Synonyms |
AdoMetDC, SAMDC, Amd-1 |
| MMRRC Submission |
040907-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3903 (G1)
|
| Quality Score |
107 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
40163454-40178184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40166453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 210
(R210H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099945]
[ENSMUST00000214698]
|
| AlphaFold |
P0DMN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099945
AA Change: R210H
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000097528
Gene: ENSMUSG00000075232
AA Change: R210H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_decarbox
|
4 |
326 |
1.5e-126 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214698
AA Change: R141H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216993
|
| Meta Mutation Damage Score |
0.0979 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation and embryonic growth arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
| Calcrl |
T |
A |
2: 84,198,986 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
| Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
| Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
| Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
| Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
| Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
probably benign |
Het |
|
| Other mutations in Amd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Amd1
|
APN |
10 |
40,166,186 (GRCm39) |
nonsense |
probably null |
|
|
IGL03303:Amd1
|
APN |
10 |
40,166,121 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0378:Amd1
|
UTSW |
10 |
40,165,380 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1413:Amd1
|
UTSW |
10 |
40,166,404 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Amd1
|
UTSW |
10 |
40,166,501 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1965:Amd1
|
UTSW |
10 |
40,170,755 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3904:Amd1
|
UTSW |
10 |
40,166,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5426:Amd1
|
UTSW |
10 |
40,166,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7068:Amd1
|
UTSW |
10 |
40,166,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8070:Amd1
|
UTSW |
10 |
40,170,226 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8082:Amd1
|
UTSW |
10 |
40,166,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9132:Amd1
|
UTSW |
10 |
40,169,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGTGAATAGTCCAATATGTTCCC -3'
(R):5'- TCTGTAACCTGTCGTTCTGAGG -3'
Sequencing Primer
(F):5'- GTCCAATATGTTCCCTTTGAGAAAAG -3'
(R):5'- ACCTGTCGTTCTGAGGTAAAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation