Incidental Mutation 'IGL03383:Agbl4'
| ID |
420788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agbl4
|
| Ensembl Gene |
ENSMUSG00000061298 |
| Gene Name |
ATP/GTP binding protein-like 4 |
| Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 111514620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106592]
|
| AlphaFold |
Q09LZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080744
|
| SMART Domains |
Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097920
|
| SMART Domains |
Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106592
|
| SMART Domains |
Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154123
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal platelet morphology and physiology, impaired megakaryopoiesis, increased spleen weight and increased susceptibility to HSV or VACV infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
| Other mutations in Agbl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00548:Agbl4
|
APN |
4 |
110,976,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Agbl4
|
APN |
4 |
110,437,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Agbl4
|
APN |
4 |
110,976,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
I1329:Agbl4
|
UTSW |
4 |
110,335,652 (GRCm39) |
splice site |
probably benign |
|
|
R0277:Agbl4
|
UTSW |
4 |
111,474,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Agbl4
|
UTSW |
4 |
111,474,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Agbl4
|
UTSW |
4 |
111,514,585 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1086:Agbl4
|
UTSW |
4 |
110,335,791 (GRCm39) |
splice site |
probably benign |
|
|
R1099:Agbl4
|
UTSW |
4 |
110,812,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1172:Agbl4
|
UTSW |
4 |
111,513,515 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Agbl4
|
UTSW |
4 |
111,423,914 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1508:Agbl4
|
UTSW |
4 |
111,513,595 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1564:Agbl4
|
UTSW |
4 |
110,812,761 (GRCm39) |
splice site |
probably null |
|
|
R1610:Agbl4
|
UTSW |
4 |
111,514,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1869:Agbl4
|
UTSW |
4 |
111,423,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1989:Agbl4
|
UTSW |
4 |
111,423,879 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2327:Agbl4
|
UTSW |
4 |
111,383,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4780:Agbl4
|
UTSW |
4 |
111,514,528 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4806:Agbl4
|
UTSW |
4 |
110,812,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Agbl4
|
UTSW |
4 |
111,513,565 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5077:Agbl4
|
UTSW |
4 |
111,423,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Agbl4
|
UTSW |
4 |
111,423,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5091:Agbl4
|
UTSW |
4 |
110,976,237 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5124:Agbl4
|
UTSW |
4 |
111,513,525 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5297:Agbl4
|
UTSW |
4 |
111,423,895 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5645:Agbl4
|
UTSW |
4 |
111,514,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5996:Agbl4
|
UTSW |
4 |
110,812,869 (GRCm39) |
splice site |
probably null |
|
|
R6363:Agbl4
|
UTSW |
4 |
111,423,982 (GRCm39) |
intron |
probably benign |
|
|
R6492:Agbl4
|
UTSW |
4 |
111,404,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Agbl4
|
UTSW |
4 |
110,437,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Agbl4
|
UTSW |
4 |
111,423,979 (GRCm39) |
intron |
probably benign |
|
|
R6873:Agbl4
|
UTSW |
4 |
111,423,856 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7015:Agbl4
|
UTSW |
4 |
110,335,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Agbl4
|
UTSW |
4 |
111,423,920 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7143:Agbl4
|
UTSW |
4 |
111,474,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Agbl4
|
UTSW |
4 |
111,514,495 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7489:Agbl4
|
UTSW |
4 |
111,383,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Agbl4
|
UTSW |
4 |
110,976,150 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7796:Agbl4
|
UTSW |
4 |
110,518,165 (GRCm39) |
missense |
unknown |
|
|
R8023:Agbl4
|
UTSW |
4 |
111,474,345 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8058:Agbl4
|
UTSW |
4 |
110,518,039 (GRCm39) |
missense |
unknown |
|
|
R8342:Agbl4
|
UTSW |
4 |
110,976,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8366:Agbl4
|
UTSW |
4 |
111,423,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8691:Agbl4
|
UTSW |
4 |
111,520,156 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Agbl4
|
UTSW |
4 |
111,383,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Agbl4
|
UTSW |
4 |
110,518,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation