Incidental Mutation 'R8691:Agbl4'
| ID |
668357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl4
|
| Ensembl Gene |
ENSMUSG00000061298 |
| Gene Name |
ATP/GTP binding protein-like 4 |
| Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
| MMRRC Submission |
068545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 111520156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 474
(V474F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106592]
|
| AlphaFold |
Q09LZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106592
AA Change: V474F
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
AA Change: V474F
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (54/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
T |
5: 30,310,287 (GRCm39) |
A24E |
unknown |
Het |
| Acap1 |
A |
G |
11: 69,781,003 (GRCm39) |
L117P |
probably damaging |
Het |
| Actl6b |
G |
A |
5: 137,565,585 (GRCm39) |
G394S |
probably damaging |
Het |
| Actr3b |
G |
T |
5: 26,030,202 (GRCm39) |
V177F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,839 (GRCm39) |
T341A |
probably benign |
Het |
| Atosa |
A |
T |
9: 74,917,335 (GRCm39) |
T652S |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,517 (GRCm39) |
S353P |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,017,141 (GRCm39) |
D224N |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,421,260 (GRCm39) |
N121Y |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,078 (GRCm39) |
Y773N |
possibly damaging |
Het |
| Cbfa2t2 |
C |
A |
2: 154,342,403 (GRCm39) |
P40T |
possibly damaging |
Het |
| Colec10 |
A |
C |
15: 54,298,420 (GRCm39) |
E60D |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,800,280 (GRCm39) |
V1647A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,471 (GRCm39) |
F222L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 138,969,774 (GRCm39) |
I97F |
possibly damaging |
Het |
| Deptor |
A |
C |
15: 55,083,596 (GRCm39) |
D388A |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,690,419 (GRCm39) |
K201E |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,850 (GRCm39) |
R854C |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,877,517 (GRCm39) |
I409V |
possibly damaging |
Het |
| Eif1ad16 |
T |
G |
12: 87,985,278 (GRCm39) |
K88N |
probably damaging |
Het |
| Esp31 |
G |
T |
17: 38,955,592 (GRCm39) |
L78F |
possibly damaging |
Het |
| Fam98c |
A |
T |
7: 28,852,889 (GRCm39) |
V48E |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,264 (GRCm39) |
E1517V |
possibly damaging |
Het |
| Fgfr1 |
A |
T |
8: 26,052,253 (GRCm39) |
D193V |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,775 (GRCm39) |
|
probably benign |
Het |
| Gm17078 |
A |
T |
14: 51,848,693 (GRCm39) |
F15I |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 63,480,321 (GRCm39) |
R45L |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,904,223 (GRCm39) |
V1175A |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,072 (GRCm39) |
I638V |
possibly damaging |
Het |
| Ighv6-7 |
A |
G |
12: 114,419,304 (GRCm39) |
V100A |
probably benign |
Het |
| Itch |
G |
T |
2: 155,052,478 (GRCm39) |
E693* |
probably null |
Het |
| Ivl |
G |
A |
3: 92,478,823 (GRCm39) |
S414L |
unknown |
Het |
| Kif5b |
T |
A |
18: 6,225,787 (GRCm39) |
N160I |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,306,881 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
C |
T |
12: 16,623,660 (GRCm39) |
|
probably benign |
Het |
| Malsu1 |
C |
A |
6: 49,052,171 (GRCm39) |
H130Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,297,676 (GRCm39) |
L787V |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,110,106 (GRCm39) |
R1738W |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,910 (GRCm39) |
T14A |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,358 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or51d1 |
C |
T |
7: 102,347,777 (GRCm39) |
Q111* |
probably null |
Het |
| Or7e176 |
T |
A |
9: 20,171,747 (GRCm39) |
S204T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,706 (GRCm39) |
T364A |
unknown |
Het |
| Phlda2 |
A |
C |
7: 143,056,206 (GRCm39) |
S8A |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,551,549 (GRCm39) |
G17E |
unknown |
Het |
| Ppfibp2 |
A |
G |
7: 107,346,785 (GRCm39) |
D899G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,833 (GRCm39) |
V171A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,513 (GRCm39) |
T1262A |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,077 (GRCm39) |
V243A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,427,182 (GRCm39) |
N1162K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,602,005 (GRCm39) |
L1419* |
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,880,313 (GRCm39) |
C1954R |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,161 (GRCm39) |
I622F |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,110 (GRCm39) |
E673G |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,262,110 (GRCm39) |
I340T |
probably damaging |
Het |
| Vmn2r110 |
G |
T |
17: 20,803,404 (GRCm39) |
D390E |
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 |
|
|
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 |
|
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'- CCATGGCCGCTTTAAACCAG -3'
(R):5'- GCTTATGTATTATCCTGAAAACCCCTG -3'
Sequencing Primer
(F):5'- GGCCGCTTTAAACCAGACCTG -3'
(R):5'- ACCCCTGTCTTGGAAACCAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation