Incidental Mutation 'R3907:Ampd3'
ID |
310250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
040908-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110392877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000143786]
[ENSMUST00000147587]
[ENSMUST00000148292]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005829
AA Change: D206G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: D206G
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 |
noncoding transcript
Transcript: ENSMUST00000106686
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143786
|
SMART Domains |
Protein: ENSMUSP00000120983 Gene: ENSMUSG00000005686
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147587
|
SMART Domains |
Protein: ENSMUSP00000121238 Gene: ENSMUSG00000005686
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148292
|
SMART Domains |
Protein: ENSMUSP00000122657 Gene: ENSMUSG00000005686
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170374
AA Change: D206G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: D206G
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 |
possibly damaging
Transcript: ENSMUST00000213373
AA Change: D215G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.0906 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
97% (56/58) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asns |
C |
T |
6: 7,682,270 (GRCm39) |
|
probably null |
Het |
Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,951,560 (GRCm39) |
I376V |
probably benign |
Het |
Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
Dnaaf9 |
C |
T |
2: 130,578,496 (GRCm39) |
A663T |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
probably damaging |
Het |
Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,410 (GRCm39) |
I345T |
probably benign |
Het |
Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,702,239 (GRCm39) |
D347G |
possibly damaging |
Het |
Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,585,926 (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 |
R2419:Ampd3
|
UTSW |
7 |
110,367,576 (GRCm39) |
unclassified |
probably benign |
|
R3438:Ampd3
|
UTSW |
7 |
110,402,433 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GACAGGCTTGCTCTAGAGACTG -3'
(R):5'- CCATCAGTGATGAGTGCCAG -3'
Sequencing Primer
(F):5'- CTTGCTCTAGAGACTGGACTATAGC -3'
(R):5'- CAGAATATGGCTCATGTCCACAATG -3'
|
Posted On |
2015-04-17 |