Incidental Mutation 'IGL00835:Agbl3'
| ID |
12449 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
4930431N21Rik, 2900053G10Rik, 6530406M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34780432-34859459 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34799732 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 391
(D391G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: D391G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: D391G
| 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: D386G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: D386G
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,302,733 (GRCm38) |
D1023G |
probably damaging |
Het |
| Aggf1 |
C |
A |
13: 95,362,477 (GRCm38) |
V450F |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,622,134 (GRCm38) |
Y1314C |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,661,358 (GRCm38) |
F192L |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,490,340 (GRCm38) |
D541G |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,757,071 (GRCm38) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,563,380 (GRCm38) |
R2255* |
probably null |
Het |
| Creb3l4 |
T |
A |
3: 90,241,987 (GRCm38) |
H138L |
possibly damaging |
Het |
| Crispld2 |
G |
A |
8: 120,010,648 (GRCm38) |
R46H |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 80,047,675 (GRCm38) |
T379A |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,135,650 (GRCm38) |
D85E |
probably damaging |
Het |
| Etv2 |
A |
T |
7: 30,633,667 (GRCm38) |
D325E |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,837,628 (GRCm38) |
I335N |
possibly damaging |
Het |
| Fkbp1b |
C |
T |
12: 4,833,726 (GRCm38) |
G90S |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 55,940,977 (GRCm38) |
|
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,478,549 (GRCm38) |
A1388S |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,733,570 (GRCm38) |
S993C |
probably damaging |
Het |
| Gsg1 |
A |
T |
6: 135,244,092 (GRCm38) |
M103K |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,360,567 (GRCm38) |
V110D |
probably damaging |
Het |
| Kat8 |
A |
G |
7: 127,920,504 (GRCm38) |
D174G |
probably damaging |
Het |
| Krt82 |
A |
T |
15: 101,543,378 (GRCm38) |
I334N |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,115,418 (GRCm38) |
T515I |
possibly damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,214,239 (GRCm38) |
L3F |
probably benign |
Het |
| Man1c1 |
T |
A |
4: 134,564,532 (GRCm38) |
Q575L |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 15,007,844 (GRCm38) |
S240P |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,751,456 (GRCm38) |
T1191I |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,364,172 (GRCm38) |
E1456K |
unknown |
Het |
| Prtn3 |
A |
G |
10: 79,881,052 (GRCm38) |
T84A |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,235,632 (GRCm38) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,609,183 (GRCm38) |
C121Y |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,160,302 (GRCm38) |
H475N |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,844,420 (GRCm38) |
D121V |
probably damaging |
Het |
| Spata16 |
A |
T |
3: 26,924,262 (GRCm38) |
E459V |
probably damaging |
Het |
| Sult2a4 |
T |
A |
7: 13,909,789 (GRCm38) |
E284D |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,089,846 (GRCm38) |
|
probably benign |
Het |
| Thsd7a |
A |
C |
6: 12,554,934 (GRCm38) |
V317G |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,242,789 (GRCm38) |
E182G |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,672,466 (GRCm38) |
D368G |
possibly damaging |
Het |
| Ttc39d |
T |
G |
17: 80,216,526 (GRCm38) |
C205G |
probably damaging |
Het |
| Unc79 |
T |
G |
12: 103,141,890 (GRCm38) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 145,160,652 (GRCm38) |
D724E |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,747,524 (GRCm38) |
|
probably null |
Het |
| Zfp507 |
G |
T |
7: 35,776,038 (GRCm38) |
H917N |
probably damaging |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,846,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34,799,159 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34,799,887 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,846,976 (GRCm38) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,839,454 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,782,157 (GRCm38) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,799,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,785,307 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,823,071 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,799,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,857,659 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,803,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,799,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,839,335 (GRCm38) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,799,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,799,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,803,451 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,828,235 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,857,517 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,832,505 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,846,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,823,087 (GRCm38) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,823,087 (GRCm38) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,799,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34,799,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,846,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,857,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,798,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,785,284 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,814,752 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,799,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,803,573 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,799,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,857,753 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,782,210 (GRCm38) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,803,594 (GRCm38) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,799,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,846,953 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,839,452 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,814,769 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,814,819 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,814,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34,857,671 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34,832,508 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,846,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,839,365 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,839,494 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,799,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,857,614 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34,799,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34,799,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,798,242 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,812,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34,846,926 (GRCm38) |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34,846,908 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,832,533 (GRCm38) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,799,358 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,799,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation