Incidental Mutation 'R5625:Ampd3'
ID |
441800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
043164-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5625 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 110401730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 408
(E408A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005829
AA Change: E408A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: E408A
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: ENSMUST00000148367
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170374
AA Change: E408A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: E408A
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: ENSMUST00000176210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195971
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213373
AA Change: E417A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.4728 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
possibly damaging |
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 |
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'- GTGACTACATTTTCCAGCGTGG -3'
(R):5'- CAGGATGCTAGGAGCTCTTC -3'
Sequencing Primer
(F):5'- GGCTGTCTTGGAAAGGCC -3'
(R):5'- ACACTTGTCCATGCTCAAGAG -3'
|
Posted On |
2016-11-08 |