Incidental Mutation 'I1329:Agbl4'
ID |
43545 |
Institutional Source |
Beutler Lab
|
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 # |
I1329 (G1)
of strain
toku
|
Quality Score |
135 |
Status
|
Validated
(trace)
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 110335652 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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.2%
|
Validation Efficiency |
89% (42/47) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
T |
C |
2: 26,863,631 (GRCm39) |
I28T |
possibly damaging |
Het |
Aspscr1 |
G |
C |
11: 120,592,066 (GRCm39) |
V268L |
probably damaging |
Het |
Btbd10 |
A |
G |
7: 112,932,082 (GRCm39) |
S115P |
probably benign |
Het |
Cercam |
T |
A |
2: 29,761,097 (GRCm39) |
V132E |
probably damaging |
Het |
Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
Dlst |
T |
C |
12: 85,170,615 (GRCm39) |
M248T |
probably damaging |
Het |
Erbb3 |
T |
C |
10: 128,419,323 (GRCm39) |
N215S |
possibly damaging |
Het |
Flnc |
G |
A |
6: 29,451,414 (GRCm39) |
V1543M |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,944,619 (GRCm39) |
S542P |
probably benign |
Het |
Gk5 |
GCC |
GC |
9: 96,022,682 (GRCm39) |
|
probably null |
Het |
Glrb |
T |
A |
3: 80,769,381 (GRCm39) |
R115S |
probably damaging |
Het |
Gm5592 |
T |
A |
7: 40,935,778 (GRCm39) |
Y93* |
probably null |
Het |
Gpr20 |
C |
T |
15: 73,567,612 (GRCm39) |
R259H |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,511,600 (GRCm39) |
T215A |
probably benign |
Het |
Ipmk |
T |
C |
10: 71,217,277 (GRCm39) |
C275R |
possibly damaging |
Het |
Lats1 |
A |
G |
10: 7,588,566 (GRCm39) |
N1061S |
probably benign |
Het |
Nkain3 |
A |
G |
4: 20,158,329 (GRCm39) |
|
probably benign |
Het |
Nr1h4 |
A |
G |
10: 89,319,224 (GRCm39) |
|
probably benign |
Het |
Nr4a3 |
A |
G |
4: 48,051,585 (GRCm39) |
Q142R |
probably benign |
Het |
Otog |
G |
A |
7: 45,895,927 (GRCm39) |
V131I |
probably benign |
Het |
Parp12 |
A |
T |
6: 39,064,505 (GRCm39) |
M627K |
probably damaging |
Het |
Pcdh9 |
A |
G |
14: 94,123,645 (GRCm39) |
S842P |
probably benign |
Het |
Phc2 |
G |
C |
4: 128,604,906 (GRCm39) |
G214A |
probably damaging |
Het |
Prpf40a |
C |
A |
2: 53,066,407 (GRCm39) |
V92L |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rpe65 |
A |
G |
3: 159,330,360 (GRCm39) |
D509G |
probably benign |
Het |
Scin |
T |
A |
12: 40,123,329 (GRCm39) |
N518I |
probably damaging |
Het |
Sfswap |
G |
T |
5: 129,584,201 (GRCm39) |
|
probably benign |
Het |
Tfpi |
A |
T |
2: 84,274,460 (GRCm39) |
N182K |
possibly damaging |
Het |
Tph1 |
A |
G |
7: 46,299,437 (GRCm39) |
L368P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,571,916 (GRCm39) |
T26326A |
possibly damaging |
Het |
Ubr1 |
G |
A |
2: 120,764,775 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,040,893 (GRCm39) |
C1791F |
probably damaging |
Het |
Vmn1r16 |
T |
G |
6: 57,300,519 (GRCm39) |
R34S |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,087,654 (GRCm39) |
P1604Q |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,013,157 (GRCm39) |
V569A |
possibly damaging |
Het |
Zmynd8 |
A |
G |
2: 165,670,145 (GRCm39) |
F488S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ttgtcgctacaATTCAATCTCCTGAACA -3'
(R):5'- AGCCTATTTCCAAAAGACCAACTTCCAT -3'
Sequencing Primer
(F):5'- GCTTAGATTTCAGTAGCGATGCAAG -3'
(R):5'- CATGACTGTCTTAAACTCATGGAG -3'
|
Posted On |
2013-05-24 |