Incidental Mutation 'R0799:Ampd3'
ID |
76529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ampd3
|
Ensembl Gene |
ENSMUSG00000005686 |
Gene Name |
adenosine monophosphate deaminase 3 |
Synonyms |
|
MMRRC Submission |
038979-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0799 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
110367413-110411612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110399904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 340
(F340L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005829]
[ENSMUST00000170374]
[ENSMUST00000213373]
|
AlphaFold |
O08739 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005829
AA Change: F331L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005829 Gene: ENSMUSG00000005686 AA Change: F331L
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: F331L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130495 Gene: ENSMUSG00000005686 AA Change: F331L
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: F340L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9632 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
100% (60/60) |
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 |
4921539E11Rik |
G |
A |
4: 103,100,101 (GRCm39) |
T33I |
possibly damaging |
Het |
4930555F03Rik |
A |
G |
8: 49,948,474 (GRCm39) |
|
noncoding transcript |
Het |
Abcf3 |
T |
C |
16: 20,378,084 (GRCm39) |
L538P |
probably damaging |
Het |
Adamts6 |
T |
C |
13: 104,450,779 (GRCm39) |
S321P |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,602,523 (GRCm39) |
R362H |
probably damaging |
Het |
AI597479 |
T |
G |
1: 43,150,330 (GRCm39) |
S147A |
probably benign |
Het |
Ajm1 |
A |
G |
2: 25,468,574 (GRCm39) |
S446P |
possibly damaging |
Het |
Atad3a |
A |
G |
4: 155,831,927 (GRCm39) |
V449A |
probably damaging |
Het |
Bmal2 |
T |
C |
6: 146,724,751 (GRCm39) |
|
probably benign |
Het |
Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,483,658 (GRCm39) |
S2903P |
probably damaging |
Het |
Cct3 |
A |
T |
3: 88,206,652 (GRCm39) |
|
probably null |
Het |
Cdk4 |
A |
G |
10: 126,900,863 (GRCm39) |
T172A |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,468,616 (GRCm39) |
D1760G |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,801,310 (GRCm39) |
|
probably benign |
Het |
Crybb2 |
T |
C |
5: 113,210,037 (GRCm39) |
I109V |
probably benign |
Het |
Csmd3 |
A |
G |
15: 48,048,780 (GRCm39) |
|
probably benign |
Het |
Dach1 |
G |
T |
14: 98,406,051 (GRCm39) |
T232K |
possibly damaging |
Het |
Dnlz |
A |
G |
2: 26,241,485 (GRCm39) |
V81A |
possibly damaging |
Het |
Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
Eps15l1 |
C |
T |
8: 73,099,929 (GRCm39) |
D821N |
probably damaging |
Het |
Fam186a |
G |
A |
15: 99,839,893 (GRCm39) |
P2117L |
probably damaging |
Het |
Fam83d |
T |
A |
2: 158,621,808 (GRCm39) |
F173Y |
probably damaging |
Het |
Gm9116 |
A |
T |
3: 93,817,772 (GRCm39) |
R214S |
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,600,401 (GRCm39) |
I445V |
probably damaging |
Het |
H2-M2 |
G |
A |
17: 37,793,640 (GRCm39) |
T122I |
probably damaging |
Het |
Hgd |
C |
T |
16: 37,448,971 (GRCm39) |
|
probably benign |
Het |
Hip1r |
A |
G |
5: 124,135,004 (GRCm39) |
Y380C |
probably benign |
Het |
Hspa8 |
G |
A |
9: 40,715,137 (GRCm39) |
G389R |
probably damaging |
Het |
Htt |
C |
A |
5: 34,975,097 (GRCm39) |
D622E |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kdm4a |
A |
G |
4: 118,004,189 (GRCm39) |
|
probably null |
Het |
Map3k9 |
G |
A |
12: 81,769,043 (GRCm39) |
P1025S |
probably benign |
Het |
Or8b47 |
G |
A |
9: 38,435,437 (GRCm39) |
M136I |
probably benign |
Het |
Pabpc1l |
C |
A |
2: 163,873,134 (GRCm39) |
H135N |
probably benign |
Het |
Pacsin2 |
A |
T |
15: 83,263,998 (GRCm39) |
S346R |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,638,938 (GRCm39) |
Y488C |
probably damaging |
Het |
Pkdcc |
G |
A |
17: 83,531,347 (GRCm39) |
C452Y |
probably damaging |
Het |
Poglut1 |
T |
C |
16: 38,355,083 (GRCm39) |
|
probably null |
Het |
Prss59 |
A |
G |
6: 40,905,533 (GRCm39) |
M41T |
probably damaging |
Het |
Pxk |
T |
C |
14: 8,148,123 (GRCm38) |
F409L |
probably benign |
Het |
Pygm |
G |
A |
19: 6,436,048 (GRCm39) |
|
probably benign |
Het |
Rabep2 |
T |
C |
7: 126,037,896 (GRCm39) |
S223P |
probably damaging |
Het |
Rpp40 |
C |
T |
13: 36,086,034 (GRCm39) |
R109H |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,940,562 (GRCm39) |
Y1266C |
possibly damaging |
Het |
Slc5a4a |
T |
C |
10: 76,012,368 (GRCm39) |
V346A |
probably benign |
Het |
Smpd3 |
G |
T |
8: 106,991,421 (GRCm39) |
H377Q |
possibly damaging |
Het |
Sppl2a |
C |
A |
2: 126,762,227 (GRCm39) |
|
probably benign |
Het |
Tas2r134 |
T |
C |
2: 51,518,385 (GRCm39) |
I288T |
probably benign |
Het |
Trim35 |
T |
A |
14: 66,546,650 (GRCm39) |
H472Q |
probably damaging |
Het |
Trpm5 |
C |
A |
7: 142,632,088 (GRCm39) |
R907L |
probably damaging |
Het |
Ube2e2 |
G |
T |
14: 18,630,393 (GRCm38) |
S56* |
probably null |
Het |
Vmn2r88 |
A |
C |
14: 51,651,959 (GRCm39) |
R432S |
possibly damaging |
Het |
Wdr24 |
A |
G |
17: 26,045,102 (GRCm39) |
Y279C |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,871,818 (GRCm39) |
N385K |
probably benign |
Het |
Zfp28 |
T |
A |
7: 6,387,182 (GRCm39) |
S73T |
possibly damaging |
Het |
Zfp345 |
T |
C |
2: 150,314,271 (GRCm39) |
E422G |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,684,709 (GRCm39) |
E26G |
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 |
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 |
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'- GCATGGGCAATGTGATACCACAGAG -3'
(R):5'- GCTTACTGCATGAACATCCAGCGAG -3'
Sequencing Primer
(F):5'- GCAGCCTTAATTCCAGGTTCAAG -3'
(R):5'- GTCCACCGTGAGGTCGTAG -3'
|
Posted On |
2013-10-16 |