Incidental Mutation 'R7147:Ampd3'
| ID |
553877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd3
|
| Ensembl Gene |
ENSMUSG00000005686 |
| Gene Name |
adenosine monophosphate deaminase 3 |
| Synonyms |
|
| MMRRC Submission |
045224-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7147 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110404059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 528
(E528K)
|
| 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: E528K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: E528K
| 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 damaging
Transcript: ENSMUST00000170374
AA Change: E528K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: E528K
| 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 |
probably damaging
Transcript: ENSMUST00000213373
AA Change: E537K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
T |
14: 56,017,182 (GRCm39) |
G303D |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,118,587 (GRCm39) |
G987D |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,748,905 (GRCm39) |
S1161P |
|
Het |
| Arl8b |
G |
A |
6: 108,791,976 (GRCm39) |
R79Q |
probably damaging |
Het |
| Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,231 (GRCm39) |
Q105L |
|
Het |
| Casd1 |
T |
C |
6: 4,624,187 (GRCm39) |
Y327H |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,743,629 (GRCm39) |
C239S |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,066,546 (GRCm39) |
H781L |
probably benign |
Het |
| Dlg1 |
A |
T |
16: 31,610,672 (GRCm39) |
M318L |
probably benign |
Het |
| Dlgap1 |
T |
C |
17: 70,969,753 (GRCm39) |
S520P |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,324,013 (GRCm39) |
I950V |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,985,755 (GRCm39) |
T1441S |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,849,654 (GRCm39) |
N1638K |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,204,239 (GRCm39) |
D23E |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,829,384 (GRCm39) |
T55S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,703,183 (GRCm39) |
Y169C |
probably damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,618,391 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
T |
A |
4: 25,213,777 (GRCm39) |
|
probably null |
Het |
| Gm5145 |
G |
A |
17: 20,791,323 (GRCm39) |
E234K |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,800,238 (GRCm39) |
D330N |
possibly damaging |
Het |
| Greb1 |
C |
T |
12: 16,783,428 (GRCm39) |
R102H |
probably damaging |
Het |
| H4c17 |
A |
G |
13: 21,996,159 (GRCm39) |
D69G |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,321,676 (GRCm39) |
K361R |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,629,400 (GRCm39) |
D245G |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,891,267 (GRCm39) |
V416A |
possibly damaging |
Het |
| Kif21a |
A |
G |
15: 90,865,086 (GRCm39) |
S529P |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,686,195 (GRCm39) |
M609T |
probably benign |
Het |
| Lrrc75a |
G |
A |
11: 62,496,795 (GRCm39) |
P256S |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,626,580 (GRCm39) |
R339G |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,065,495 (GRCm39) |
W371* |
probably null |
Het |
| Mei4 |
T |
A |
9: 81,809,649 (GRCm39) |
L244Q |
probably damaging |
Het |
| Mical2 |
C |
T |
7: 111,922,810 (GRCm39) |
P605L |
possibly damaging |
Het |
| Mrgprf |
G |
T |
7: 144,862,128 (GRCm39) |
R230L |
possibly damaging |
Het |
| Nlgn1 |
T |
A |
3: 26,187,509 (GRCm39) |
R125S |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,213,273 (GRCm39) |
|
probably benign |
Het |
| Papola |
A |
T |
12: 105,774,897 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
T |
C |
11: 5,823,095 (GRCm39) |
D360G |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,683,274 (GRCm39) |
R1797G |
unknown |
Het |
| Psmg2 |
C |
T |
18: 67,786,338 (GRCm39) |
P233S |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,553,781 (GRCm39) |
W857R |
probably damaging |
Het |
| Raet1e |
A |
T |
10: 22,057,179 (GRCm39) |
M168L |
probably benign |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,908 (GRCm39) |
Y61F |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,398,016 (GRCm39) |
N236S |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,046,268 (GRCm39) |
S310T |
probably benign |
Het |
| Sdr42e2 |
A |
T |
7: 120,412,238 (GRCm39) |
R33S |
probably damaging |
Het |
| Sh3d19 |
T |
A |
3: 86,011,584 (GRCm39) |
I390N |
possibly damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,154,042 (GRCm39) |
Y177H |
probably damaging |
Het |
| Smo |
G |
A |
6: 29,758,448 (GRCm39) |
G531D |
possibly damaging |
Het |
| Snx25 |
A |
C |
8: 46,558,233 (GRCm39) |
V258G |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,028 (GRCm39) |
S1059T |
probably benign |
Het |
| Srgap2 |
C |
T |
1: 131,238,332 (GRCm39) |
C274Y |
|
Het |
| Srrm1 |
A |
G |
4: 135,074,137 (GRCm39) |
I48T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,199,340 (GRCm39) |
V3719E |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,128 (GRCm39) |
M616K |
probably benign |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,610 (GRCm39) |
V234D |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,783,895 (GRCm39) |
N293S |
probably damaging |
Het |
| Trim13 |
A |
T |
14: 61,842,080 (GRCm39) |
K32N |
probably damaging |
Het |
| Trim6 |
G |
A |
7: 103,874,777 (GRCm39) |
V5I |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,266,379 (GRCm39) |
L436* |
probably null |
Het |
| Vps50 |
C |
T |
6: 3,567,750 (GRCm39) |
Q549* |
probably null |
Het |
| Vtcn1 |
T |
A |
3: 100,791,210 (GRCm39) |
F83I |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
probably benign |
Het |
| Zfp758 |
A |
T |
17: 22,594,981 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,531 (GRCm39) |
Y787H |
probably benign |
Het |
| Zfp9 |
C |
T |
6: 118,441,963 (GRCm39) |
C233Y |
probably 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 |
|
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 |
|
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'- AGCTCAGATCCAGCCTCATCTG -3'
(R):5'- TGTGCAACACAGGCTCATGC -3'
Sequencing Primer
(F):5'- ATACACAGGGGCTGGCATTCTC -3'
(R):5'- TCATGCCGGGGCCTCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation