Incidental Mutation 'R9720:Ampd3'
| ID |
730719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd3
|
| Ensembl Gene |
ENSMUSG00000005686 |
| Gene Name |
adenosine monophosphate deaminase 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110377056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 16
(H16N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000143786]
[ENSMUST00000147587]
[ENSMUST00000148292]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
| AlphaFold |
O08739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005829
AA Change: H16N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: H16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
309 |
716 |
1.5e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143786
AA Change: H16N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686
AA Change: H16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147587
AA Change: H16N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686
AA Change: H16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148292
AA Change: H16N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686
AA Change: H16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170374
AA Change: H16N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: H16N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Pfam:A_deaminase
|
309 |
716 |
7.6e-129 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213373
AA Change: H25N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,183 (GRCm39) |
V968G |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,900,236 (GRCm39) |
V110A |
|
Het |
| Adamts2 |
T |
C |
11: 50,666,954 (GRCm39) |
M417T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,740,693 (GRCm39) |
I145T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,825,335 (GRCm39) |
S1335C |
|
Het |
| Ankrd26 |
G |
A |
6: 118,498,902 (GRCm39) |
S1208L |
probably damaging |
Het |
| Atmin |
G |
A |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| AU018091 |
T |
C |
7: 3,209,272 (GRCm39) |
T323A |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Bltp3b |
T |
A |
10: 89,641,219 (GRCm39) |
S797T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,026,330 (GRCm39) |
I468V |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,302,297 (GRCm39) |
H1985L |
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,269,568 (GRCm39) |
V550A |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,813 (GRCm39) |
S784G |
probably benign |
Het |
| Cd300ld2 |
C |
T |
11: 114,903,118 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,686,621 (GRCm39) |
A227V |
probably benign |
Het |
| Clcn7 |
G |
T |
17: 25,374,471 (GRCm39) |
R524L |
probably damaging |
Het |
| Cldn22 |
G |
A |
8: 48,277,786 (GRCm39) |
A75T |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,724 (GRCm39) |
D146G |
probably benign |
Het |
| Dhx32 |
C |
A |
7: 133,324,857 (GRCm39) |
E607* |
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,716,580 (GRCm39) |
Y350C |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,976 (GRCm39) |
D181V |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,673 (GRCm39) |
N137S |
probably damaging |
Het |
| Gar1 |
C |
T |
3: 129,620,497 (GRCm39) |
G197S |
unknown |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Hap1 |
T |
A |
11: 100,246,696 (GRCm39) |
I70F |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,920,607 (GRCm39) |
Y150C |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,810 (GRCm39) |
V59I |
probably damaging |
Het |
| Il15 |
T |
G |
8: 83,058,608 (GRCm39) |
K142Q |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,654,804 (GRCm39) |
Y225H |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,588,226 (GRCm39) |
I145F |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,284,083 (GRCm39) |
T499S |
probably benign |
Het |
| Lrriq4 |
A |
G |
3: 30,714,077 (GRCm39) |
N490S |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mical3 |
A |
G |
6: 120,935,238 (GRCm39) |
S1763P |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,304 (GRCm39) |
V1000A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,358,793 (GRCm39) |
S414P |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,165,499 (GRCm39) |
V622A |
possibly damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,581 (GRCm39) |
V281A |
probably benign |
Het |
| Or6d14 |
T |
C |
6: 116,534,016 (GRCm39) |
V210A |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,603,287 (GRCm39) |
D2234G |
probably damaging |
Het |
| Pde6c |
A |
T |
19: 38,157,887 (GRCm39) |
Y637F |
probably benign |
Het |
| Pigg |
T |
A |
5: 108,467,800 (GRCm39) |
C266* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
| Pkp2 |
T |
C |
16: 16,087,584 (GRCm39) |
V756A |
probably benign |
Het |
| Pole |
C |
T |
5: 110,484,909 (GRCm39) |
T2245I |
probably benign |
Het |
| Ppm1g |
A |
C |
5: 31,360,914 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,485,298 (GRCm39) |
I340M |
possibly damaging |
Het |
| Pvr |
G |
A |
7: 19,643,121 (GRCm39) |
R371* |
probably null |
Het |
| Rassf9 |
G |
A |
10: 102,348,369 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,559,882 (GRCm39) |
N652K |
possibly damaging |
Het |
| Sall4 |
G |
C |
2: 168,592,160 (GRCm39) |
S998C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 142,197,796 (GRCm39) |
Y2150H |
probably damaging |
Het |
| Serpinb3b |
A |
T |
1: 107,083,669 (GRCm39) |
I170K |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,682,137 (GRCm39) |
D390V |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,930 (GRCm39) |
V11A |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,040,584 (GRCm39) |
T220I |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,733 (GRCm39) |
I216T |
probably benign |
Het |
| Tas2r122 |
G |
T |
6: 132,688,634 (GRCm39) |
D86E |
probably benign |
Het |
| Tbxa2r |
T |
A |
10: 81,169,018 (GRCm39) |
C236S |
probably benign |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,286 (GRCm39) |
T80K |
probably benign |
Het |
| Trav6d-5 |
T |
A |
14: 53,033,077 (GRCm39) |
C109S |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,847,495 (GRCm39) |
M982T |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,683,485 (GRCm39) |
T2176S |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,910,890 (GRCm39) |
T259A |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,197 (GRCm39) |
I397K |
probably benign |
Het |
|
| Other mutations in Ampd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Ampd3
|
APN |
7 |
110,402,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00576:Ampd3
|
APN |
7 |
110,388,028 (GRCm39) |
splice site |
probably benign |
|
|
IGL00805:Ampd3
|
APN |
7 |
110,409,072 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01486:Ampd3
|
APN |
7 |
110,409,123 (GRCm39) |
splice site |
probably benign |
|
|
IGL01551:Ampd3
|
APN |
7 |
110,404,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Ampd3
|
APN |
7 |
110,392,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02123:Ampd3
|
APN |
7 |
110,401,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02605:Ampd3
|
APN |
7 |
110,394,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02990:Ampd3
|
APN |
7 |
110,407,170 (GRCm39) |
splice site |
probably benign |
|
|
carson
|
UTSW |
7 |
110,399,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
commanche
|
UTSW |
7 |
110,407,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
guangdong
|
UTSW |
7 |
110,402,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
macao
|
UTSW |
7 |
110,402,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
penasco
|
UTSW |
7 |
110,402,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
taos
|
UTSW |
7 |
110,404,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Ampd3
|
UTSW |
7 |
110,392,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Ampd3
|
UTSW |
7 |
110,392,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0608:Ampd3
|
UTSW |
7 |
110,394,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Ampd3
|
UTSW |
7 |
110,394,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Ampd3
|
UTSW |
7 |
110,377,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Ampd3
|
UTSW |
7 |
110,399,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Ampd3
|
UTSW |
7 |
110,387,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Ampd3
|
UTSW |
7 |
110,404,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1676:Ampd3
|
UTSW |
7 |
110,394,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Ampd3
|
UTSW |
7 |
110,402,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Ampd3
|
UTSW |
7 |
110,399,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Ampd3
|
UTSW |
7 |
110,367,576 (GRCm39) |
unclassified |
probably benign |
|
|
R3438:Ampd3
|
UTSW |
7 |
110,402,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Ampd3
|
UTSW |
7 |
110,392,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5367:Ampd3
|
UTSW |
7 |
110,407,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5625:Ampd3
|
UTSW |
7 |
110,401,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6066:Ampd3
|
UTSW |
7 |
110,392,974 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6267:Ampd3
|
UTSW |
7 |
110,390,387 (GRCm39) |
splice site |
probably null |
|
|
R6493:Ampd3
|
UTSW |
7 |
110,395,018 (GRCm39) |
splice site |
probably null |
|
|
R6852:Ampd3
|
UTSW |
7 |
110,401,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7147:Ampd3
|
UTSW |
7 |
110,404,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Ampd3
|
UTSW |
7 |
110,405,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Ampd3
|
UTSW |
7 |
110,377,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7843:Ampd3
|
UTSW |
7 |
110,390,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7946:Ampd3
|
UTSW |
7 |
110,377,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Ampd3
|
UTSW |
7 |
110,394,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8377:Ampd3
|
UTSW |
7 |
110,399,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Ampd3
|
UTSW |
7 |
110,402,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Ampd3
|
UTSW |
7 |
110,409,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Ampd3
|
UTSW |
7 |
110,402,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ampd3
|
UTSW |
7 |
110,377,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ampd3
|
UTSW |
7 |
110,387,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCTGGGAATCCATCACC -3'
(R):5'- GCTAGGTGGCCTTGGATAAAAG -3'
Sequencing Primer
(F):5'- TCTGGGAATCCATCACCACATC -3'
(R):5'- GGGAACAAACCTTTTTGCTGTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation