Incidental Mutation 'R2419:Ampd3'
ID |
249142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
040381-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2419 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 110367576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005829
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686
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 |
|
SMART Domains |
Protein: ENSMUSP00000095712 Gene: ENSMUSG00000073866 AA Change: *182Q
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
low complexity region
|
152 |
158 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106686
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170374
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686
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 |
noncoding transcript
Transcript: ENSMUST00000176487
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209731
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213373
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (57/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
Acyp2 |
T |
C |
11: 30,582,316 (GRCm39) |
Y33C |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
Arl4d |
A |
T |
11: 101,557,714 (GRCm39) |
Q80L |
probably damaging |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,384,837 (GRCm39) |
V35D |
probably benign |
Het |
Cd6 |
G |
A |
19: 10,770,216 (GRCm39) |
P492S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,902,740 (GRCm39) |
S477N |
possibly damaging |
Het |
Cnmd |
G |
A |
14: 79,875,488 (GRCm39) |
P311S |
probably damaging |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Dusp18 |
T |
C |
11: 3,847,018 (GRCm39) |
S3P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,910,620 (GRCm39) |
|
probably benign |
Het |
Foxb2 |
G |
C |
19: 16,850,325 (GRCm39) |
A227G |
probably damaging |
Het |
Hey1 |
A |
G |
3: 8,731,003 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kcna2 |
G |
A |
3: 107,011,469 (GRCm39) |
G17R |
probably benign |
Het |
Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Leng9 |
A |
G |
7: 4,151,626 (GRCm39) |
V350A |
probably benign |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Lrat |
A |
G |
3: 82,810,992 (GRCm39) |
S10P |
probably damaging |
Het |
Lrrk2 |
C |
A |
15: 91,681,729 (GRCm39) |
|
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Met |
T |
C |
6: 17,535,829 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
G |
6: 120,936,884 (GRCm39) |
V342A |
probably benign |
Het |
Nup210 |
G |
A |
6: 90,994,538 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
T |
A |
10: 78,448,221 (GRCm39) |
I85F |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,338 (GRCm39) |
V247E |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Phc3 |
T |
C |
3: 31,005,027 (GRCm39) |
M189V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,020 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
Rbbp5 |
T |
C |
1: 132,421,564 (GRCm39) |
I88T |
possibly damaging |
Het |
Rfpl4b |
T |
C |
10: 38,697,368 (GRCm39) |
R78G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Sdad1 |
T |
C |
5: 92,453,677 (GRCm39) |
H37R |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,378,065 (GRCm39) |
F627I |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,245,350 (GRCm39) |
S293P |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,032,560 (GRCm39) |
E191G |
possibly damaging |
Het |
Snx18 |
T |
C |
13: 113,753,755 (GRCm39) |
M393V |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,974,146 (GRCm39) |
T1160A |
possibly damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,829 (GRCm39) |
V42A |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,415,983 (GRCm39) |
F897L |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem62 |
G |
A |
2: 120,837,586 (GRCm39) |
G501E |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,687,641 (GRCm39) |
K1167E |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,886,194 (GRCm39) |
S88P |
probably benign |
Het |
Ugt2b38 |
T |
C |
5: 87,571,591 (GRCm39) |
D147G |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,330,675 (GRCm39) |
Q896L |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,185,307 (GRCm39) |
K446E |
possibly damaging |
Het |
Zpr1 |
T |
C |
9: 46,187,490 (GRCm39) |
|
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 |
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 |
R9720:Ampd3
|
UTSW |
7 |
110,377,056 (GRCm39) |
missense |
probably benign |
|
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'- GCTGGCATAGAAACTAGACCG -3'
(R):5'- TGCCAGCAGGAAACCTAAGC -3'
Sequencing Primer
(F):5'- CTAGACCGCAGAAGGCTG -3'
(R):5'- GGAAACCTAAGCACCCGGG -3'
|
Posted On |
2014-11-12 |