Incidental Mutation 'R6363:Agbl4'
ID |
512575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
044513-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6363 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 111423982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[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 |
unknown
Transcript: ENSMUST00000106591
AA Change: E336G
|
SMART Domains |
Protein: ENSMUSP00000102201 Gene: ENSMUSG00000061298 AA Change: E336G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142460
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148038
|
SMART Domains |
Protein: ENSMUSP00000118551 Gene: ENSMUSG00000061298
Domain | Start | End | E-Value | Type |
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154123
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
98% (51/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxrl |
G |
T |
14: 33,791,244 (GRCm39) |
C379F |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,651,971 (GRCm39) |
C256R |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 58,021,618 (GRCm39) |
E254G |
probably benign |
Het |
Ccndbp1 |
C |
T |
2: 120,843,454 (GRCm39) |
P282L |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,818,207 (GRCm39) |
T144I |
unknown |
Het |
Csmd2 |
A |
T |
4: 128,294,172 (GRCm39) |
H1167L |
probably benign |
Het |
Ctsk |
A |
T |
3: 95,408,862 (GRCm39) |
T82S |
probably damaging |
Het |
Cyp3a41b |
A |
T |
5: 145,507,197 (GRCm39) |
F248I |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,407,679 (GRCm39) |
I2051T |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,001,331 (GRCm39) |
F871L |
probably benign |
Het |
Eif2b4 |
A |
G |
5: 31,348,583 (GRCm39) |
V210A |
probably damaging |
Het |
Eral1 |
A |
G |
11: 77,965,143 (GRCm39) |
I385T |
probably damaging |
Het |
Ercc8 |
T |
C |
13: 108,320,404 (GRCm39) |
L330P |
probably damaging |
Het |
Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
Fcrl1 |
A |
T |
3: 87,292,475 (GRCm39) |
I156F |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,765,565 (GRCm39) |
Y1465C |
probably damaging |
Het |
Gpr17 |
A |
G |
18: 32,080,625 (GRCm39) |
L146P |
probably damaging |
Het |
Gpr171 |
A |
G |
3: 59,005,313 (GRCm39) |
I154T |
possibly damaging |
Het |
Hid1 |
T |
A |
11: 115,243,422 (GRCm39) |
Y542F |
probably damaging |
Het |
Hspa8 |
T |
C |
9: 40,714,361 (GRCm39) |
V219A |
probably damaging |
Het |
Klhl24 |
C |
T |
16: 19,938,933 (GRCm39) |
T496I |
possibly damaging |
Het |
Krtcap2 |
T |
C |
3: 89,156,413 (GRCm39) |
S64P |
probably damaging |
Het |
Msh3 |
C |
A |
13: 92,349,032 (GRCm39) |
D1066Y |
probably damaging |
Het |
Naaladl2 |
C |
T |
3: 24,389,481 (GRCm39) |
G323R |
possibly damaging |
Het |
Nbas |
A |
G |
12: 13,532,577 (GRCm39) |
T1762A |
probably benign |
Het |
Nr4a1 |
C |
T |
15: 101,171,996 (GRCm39) |
R557C |
probably damaging |
Het |
Ogfrl1 |
T |
A |
1: 23,409,194 (GRCm39) |
H344L |
probably benign |
Het |
Or13a25 |
T |
A |
7: 140,247,995 (GRCm39) |
F265Y |
possibly damaging |
Het |
Or5a1 |
T |
A |
19: 12,097,530 (GRCm39) |
H182L |
possibly damaging |
Het |
Or5p55 |
A |
G |
7: 107,566,957 (GRCm39) |
M118V |
possibly damaging |
Het |
Or9k7 |
A |
C |
10: 130,046,906 (GRCm39) |
V31G |
possibly damaging |
Het |
Orm2 |
G |
A |
4: 63,280,841 (GRCm39) |
|
probably null |
Het |
Patj |
T |
A |
4: 98,320,097 (GRCm39) |
S455T |
probably benign |
Het |
Pdgfra |
G |
T |
5: 75,331,497 (GRCm39) |
V336L |
possibly damaging |
Het |
Prkaa1 |
T |
C |
15: 5,206,437 (GRCm39) |
L431S |
probably damaging |
Het |
Ptgfrn |
A |
G |
3: 100,952,894 (GRCm39) |
V780A |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,525,081 (GRCm39) |
V184E |
probably benign |
Het |
Rev1 |
T |
A |
1: 38,110,570 (GRCm39) |
H560L |
probably damaging |
Het |
Serpinb13 |
A |
T |
1: 106,928,504 (GRCm39) |
R375* |
probably null |
Het |
Slc8a2 |
C |
A |
7: 15,867,970 (GRCm39) |
D67E |
probably benign |
Het |
Sos2 |
A |
T |
12: 69,678,885 (GRCm39) |
N307K |
probably benign |
Het |
Srgap2 |
G |
A |
1: 131,226,206 (GRCm39) |
R36W |
probably damaging |
Het |
Tas2r119 |
G |
T |
15: 32,178,034 (GRCm39) |
W200L |
possibly damaging |
Het |
Tep1 |
T |
G |
14: 51,062,005 (GRCm39) |
K2575T |
probably benign |
Het |
Ttc36 |
T |
A |
9: 44,710,936 (GRCm39) |
R131S |
probably damaging |
Het |
Ttyh3 |
A |
T |
5: 140,620,979 (GRCm39) |
L195Q |
probably damaging |
Het |
Uba7 |
G |
A |
9: 107,857,382 (GRCm39) |
|
probably null |
Het |
Utp20 |
A |
C |
10: 88,592,942 (GRCm39) |
V2249G |
probably damaging |
Het |
Wwc2 |
A |
T |
8: 48,340,197 (GRCm39) |
|
probably null |
Het |
Zdhhc21 |
A |
T |
4: 82,765,911 (GRCm39) |
V8D |
probably damaging |
Het |
Zfp719 |
A |
G |
7: 43,239,290 (GRCm39) |
T293A |
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 |
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 |
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 |
|
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'- AGCCTGTCCCATCTGTACTG -3'
(R):5'- GTGCTCCCATGTATTTCCACGG -3'
Sequencing Primer
(F):5'- GACTCTCAGTCTCTACTTTGTCTAGG -3'
(R):5'- ATGTATTTCCACGGCTTCATGATAC -3'
|
Posted On |
2018-04-27 |