Incidental Mutation 'R1053:Ampd3'
| ID |
94121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ampd3
|
| Ensembl Gene |
ENSMUSG00000005686 |
| Gene Name |
adenosine monophosphate deaminase 3 |
| Synonyms |
|
| MMRRC Submission |
039143-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1053 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110387887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 107
(G107S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000143786]
[ENSMUST00000147587]
[ENSMUST00000148292]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
| AlphaFold |
O08739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005829
AA Change: G98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: G98S
| 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 damaging
Transcript: ENSMUST00000143786
AA Change: G98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686
AA Change: G98S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147587
AA Change: G98S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686
AA Change: G98S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148292
AA Change: G98S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686
AA Change: G98S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170374
AA Change: G98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: G98S
| 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 |
probably damaging
Transcript: ENSMUST00000213373
AA Change: G107S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
| Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
| Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
| Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
| Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
| Lrp12 |
A |
C |
15: 39,741,377 (GRCm39) |
F446C |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
| Or1b1 |
T |
C |
2: 36,995,476 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
| Or8b12 |
T |
C |
9: 37,658,131 (GRCm39) |
S234P |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
| Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
| Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,330 (GRCm39) |
D489G |
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 |
|
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 |
|
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'- ATGACAGTGGAACTTCTTGCCGCC -3'
(R):5'- ATGGGACAACTCCCTAGACATGCC -3'
Sequencing Primer
(F):5'- CTGAGATTCTCCCTATGAGCAG -3'
(R):5'- ATCCCTGAGTCTCCACTAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation