Incidental Mutation 'IGL03401:Agbl4'
ID |
421409 |
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 # |
IGL03401
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 110976216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 191
(R191L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
AlphaFold |
Q09LZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080744
AA Change: R191L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079568 Gene: ENSMUSG00000061298 AA Change: R191L
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097920
AA Change: R191L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095533 Gene: ENSMUSG00000061298 AA Change: R191L
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106591
AA Change: R191L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102201 Gene: ENSMUSG00000061298 AA Change: R191L
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106592
AA Change: R191L
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000102202 Gene: ENSMUSG00000061298 AA Change: R191L
Domain | Start | End | E-Value | Type |
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136433
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148038
AA Change: R36L
|
SMART Domains |
Protein: ENSMUSP00000118551 Gene: ENSMUSG00000061298 AA Change: R36L
Domain | Start | End | E-Value | Type |
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
Actn1 |
A |
T |
12: 80,215,741 (GRCm39) |
L799* |
probably null |
Het |
Adam12 |
A |
T |
7: 133,518,192 (GRCm39) |
N327K |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
AW209491 |
A |
G |
13: 14,812,041 (GRCm39) |
D298G |
probably benign |
Het |
Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
T |
12: 105,795,381 (GRCm39) |
T611S |
probably benign |
Het |
Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
Trmt9b |
A |
C |
8: 36,972,823 (GRCm39) |
D91A |
probably damaging |
Het |
Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
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 |
|
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 |