Incidental Mutation 'R1086:Agbl4'
ID |
85017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
039172-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to C
at 110335791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106587]
[ENSMUST00000106589]
[ENSMUST00000106591]
[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: ENSMUST00000106587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106589
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106591
|
SMART Domains |
Protein: ENSMUSP00000102201 Gene: ENSMUSG00000061298
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
Validation Efficiency |
100% (53/53) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably damaging |
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 |
IGL03383:Agbl4
|
APN |
4 |
111,514,620 (GRCm39) |
intron |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAGAGGTCCCAATGTTAGTGTGTGA -3'
(R):5'- TTCCAAAAGACCAACTTCCATGACTGT -3'
Sequencing Primer
(F):5'- TCCCAATGTTAGTGTGTGATAGAG -3'
(R):5'- CATGACTGTCTTAAACTCATGGAG -3'
|
Posted On |
2013-11-18 |