Incidental Mutation 'R4169:Ampd1'
| ID |
320683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd1
|
| Ensembl Gene |
ENSMUSG00000070385 |
| Gene Name |
adenosine monophosphate deaminase 1 |
| Synonyms |
Ampd-1 |
| MMRRC Submission |
041010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R4169 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102981330-103007036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103002157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 546
(M546K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090715]
[ENSMUST00000155034]
|
| AlphaFold |
Q3V1D3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090715
AA Change: M546K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: M546K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
294 |
701 |
5.4e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155034
AA Change: M546K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: M546K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
294 |
676 |
5.2e-103 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177250
AA Change: M47K
|
| SMART Domains |
Protein: ENSMUSP00000134772
Gene: ENSMUSG00000070385
AA Change: M47K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deaminase
|
22 |
203 |
1.4e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199407
|
| Meta Mutation Damage Score |
0.6483 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
| Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
| Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
| Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
| Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
| Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
| Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
| Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
| Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
| Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
possibly damaging |
Het |
|
| Other mutations in Ampd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Ampd1
|
APN |
3 |
103,007,010 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00909:Ampd1
|
APN |
3 |
102,995,744 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01543:Ampd1
|
APN |
3 |
103,003,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01743:Ampd1
|
APN |
3 |
103,002,201 (GRCm39) |
splice site |
probably benign |
|
|
IGL02390:Ampd1
|
APN |
3 |
102,986,357 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02637:Ampd1
|
APN |
3 |
103,002,199 (GRCm39) |
splice site |
probably benign |
|
|
IGL02735:Ampd1
|
APN |
3 |
102,992,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:Ampd1
|
APN |
3 |
102,999,786 (GRCm39) |
splice site |
probably null |
|
|
twinkle_toes
|
UTSW |
3 |
103,002,962 (GRCm39) |
nonsense |
probably null |
|
|
R0158:Ampd1
|
UTSW |
3 |
102,999,046 (GRCm39) |
nonsense |
probably null |
|
|
R0441:Ampd1
|
UTSW |
3 |
102,995,794 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0646:Ampd1
|
UTSW |
3 |
103,006,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Ampd1
|
UTSW |
3 |
103,006,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Ampd1
|
UTSW |
3 |
102,998,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Ampd1
|
UTSW |
3 |
103,006,442 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2131:Ampd1
|
UTSW |
3 |
103,002,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3706:Ampd1
|
UTSW |
3 |
102,995,627 (GRCm39) |
splice site |
probably benign |
|
|
R4007:Ampd1
|
UTSW |
3 |
102,999,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4525:Ampd1
|
UTSW |
3 |
103,002,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Ampd1
|
UTSW |
3 |
102,988,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Ampd1
|
UTSW |
3 |
103,006,981 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5514:Ampd1
|
UTSW |
3 |
102,986,488 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5839:Ampd1
|
UTSW |
3 |
102,992,744 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5872:Ampd1
|
UTSW |
3 |
102,986,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5890:Ampd1
|
UTSW |
3 |
102,997,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Ampd1
|
UTSW |
3 |
102,992,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Ampd1
|
UTSW |
3 |
102,992,699 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6473:Ampd1
|
UTSW |
3 |
103,002,962 (GRCm39) |
nonsense |
probably null |
|
|
R6504:Ampd1
|
UTSW |
3 |
103,006,911 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7051:Ampd1
|
UTSW |
3 |
102,997,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Ampd1
|
UTSW |
3 |
102,992,696 (GRCm39) |
missense |
probably benign |
|
|
R7424:Ampd1
|
UTSW |
3 |
102,995,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7436:Ampd1
|
UTSW |
3 |
102,981,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7546:Ampd1
|
UTSW |
3 |
103,003,028 (GRCm39) |
missense |
probably benign |
|
|
R8344:Ampd1
|
UTSW |
3 |
103,003,002 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8366:Ampd1
|
UTSW |
3 |
102,995,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8423:Ampd1
|
UTSW |
3 |
102,988,305 (GRCm39) |
missense |
probably benign |
|
|
R8543:Ampd1
|
UTSW |
3 |
102,986,486 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8730:Ampd1
|
UTSW |
3 |
102,992,676 (GRCm39) |
nonsense |
probably null |
|
|
R8904:Ampd1
|
UTSW |
3 |
102,988,374 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9017:Ampd1
|
UTSW |
3 |
102,995,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9121:Ampd1
|
UTSW |
3 |
103,005,998 (GRCm39) |
nonsense |
probably null |
|
|
R9150:Ampd1
|
UTSW |
3 |
102,988,359 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9242:Ampd1
|
UTSW |
3 |
102,998,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGGCCATCACTGACTC -3'
(R):5'- ACCAAGCCTTCATTGTCTGACC -3'
Sequencing Primer
(F):5'- AGTTTCACTGAGTGCAGAGCC -3'
(R):5'- ATTGTCTGACCTCCTCGTGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation