Incidental Mutation 'IGL00840:Agbl3'
| ID |
13287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00840
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34776094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 200
(V200A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115016
AA Change: V200A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: V200A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
314 |
563 |
2.7e-19 |
PFAM |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115017
AA Change: V195A
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: V195A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
309 |
560 |
1e-33 |
PFAM |
|
low complexity region
|
609 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135304
|
| SMART Domains |
Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148834
|
| SMART Domains |
Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202017
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
| Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
| F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
| Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
| Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
| Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,823,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34,776,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:Agbl3
|
APN |
6 |
34,776,822 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,823,911 (GRCm39) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,816,389 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,759,092 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,776,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,762,242 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,800,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,776,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,834,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,780,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,776,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,816,270 (GRCm39) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,776,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,776,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,780,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,805,170 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,834,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,809,440 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,823,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,823,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,834,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,775,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,762,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,791,687 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,776,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,780,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,776,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,834,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,759,145 (GRCm39) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,780,529 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,776,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,823,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,816,387 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,791,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,791,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,791,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34,834,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34,809,443 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,823,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,816,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,816,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,776,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,834,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,775,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34,823,861 (GRCm39) |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34,823,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,809,468 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,776,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,776,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation