Incidental Mutation 'R5077:Agbl4'
ID |
401925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl4
|
Ensembl Gene |
ENSMUSG00000061298 |
Gene Name |
ATP/GTP binding protein-like 4 |
Synonyms |
4931433A01Rik, Ccp6, 4930578N11Rik |
MMRRC Submission |
042666-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
110254858-111521521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 111423939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 322
(M322L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102201
(fasta)
|
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 |
probably benign
Transcript: ENSMUST00000106591
AA Change: M322L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102201 Gene: ENSMUSG00000061298 AA Change: M322L
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
93% (51/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
G |
8: 44,080,200 (GRCm39) |
V8A |
possibly damaging |
Het |
Ankrd55 |
A |
G |
13: 112,492,522 (GRCm39) |
K231R |
probably benign |
Het |
Asap1 |
A |
C |
15: 63,999,272 (GRCm39) |
M534R |
probably damaging |
Het |
B4galnt2 |
T |
A |
11: 95,767,140 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,437,475 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,594,224 (GRCm39) |
I2311M |
probably benign |
Het |
Capn2 |
G |
T |
1: 182,300,138 (GRCm39) |
D617E |
possibly damaging |
Het |
Catsper1 |
A |
G |
19: 5,385,998 (GRCm39) |
D77G |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,922,098 (GRCm39) |
|
probably benign |
Het |
Cdca8 |
T |
C |
4: 124,820,470 (GRCm39) |
K109E |
probably damaging |
Het |
Dbx1 |
A |
G |
7: 49,283,242 (GRCm39) |
S223P |
probably damaging |
Het |
Dlg4 |
A |
G |
11: 69,917,852 (GRCm39) |
N45S |
possibly damaging |
Het |
Dlgap2 |
T |
G |
8: 14,872,691 (GRCm39) |
V723G |
probably benign |
Het |
Efl1 |
C |
A |
7: 82,307,295 (GRCm39) |
Q64K |
probably damaging |
Het |
Eml1 |
T |
A |
12: 108,472,871 (GRCm39) |
|
probably benign |
Het |
Fbxw16 |
A |
G |
9: 109,270,117 (GRCm39) |
|
probably null |
Het |
Gm10800 |
A |
T |
2: 98,497,379 (GRCm39) |
L80M |
probably benign |
Het |
H4c16 |
A |
G |
6: 136,781,113 (GRCm39) |
Y89H |
probably benign |
Het |
Insig2 |
A |
T |
1: 121,239,964 (GRCm39) |
V112E |
probably damaging |
Het |
Kcnip3 |
A |
G |
2: 127,307,797 (GRCm39) |
S123P |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,780,851 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
C |
8: 10,372,658 (GRCm39) |
V119A |
probably damaging |
Het |
Naa25 |
G |
A |
5: 121,562,639 (GRCm39) |
V474M |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,379,277 (GRCm39) |
V219E |
probably damaging |
Het |
Niban1 |
A |
G |
1: 151,590,274 (GRCm39) |
I523V |
probably benign |
Het |
Nrp1 |
G |
T |
8: 129,227,154 (GRCm39) |
|
probably null |
Het |
Nsun4 |
A |
T |
4: 115,905,781 (GRCm39) |
D58E |
probably benign |
Het |
Obscn |
G |
T |
11: 58,934,883 (GRCm39) |
A5249D |
probably damaging |
Het |
Or8k53 |
A |
T |
2: 86,177,683 (GRCm39) |
H142Q |
probably benign |
Het |
Osmr |
A |
T |
15: 6,873,874 (GRCm39) |
Y174* |
probably null |
Het |
Pi4k2a |
T |
C |
19: 42,108,275 (GRCm39) |
|
probably null |
Het |
Pram1 |
C |
T |
17: 33,863,878 (GRCm39) |
Q572* |
probably null |
Het |
Prdm5 |
C |
A |
6: 65,756,158 (GRCm39) |
T25K |
probably damaging |
Het |
Psen1 |
T |
C |
12: 83,771,439 (GRCm39) |
Y240H |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
Rbck1 |
A |
C |
2: 152,160,371 (GRCm39) |
M436R |
probably benign |
Het |
Resf1 |
T |
G |
6: 149,227,528 (GRCm39) |
S191R |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,488 (GRCm39) |
N64D |
possibly damaging |
Het |
Rsph4a |
A |
G |
10: 33,784,275 (GRCm39) |
D299G |
probably damaging |
Het |
Sema4c |
T |
C |
1: 36,590,812 (GRCm39) |
S480G |
probably benign |
Het |
Srp68 |
T |
C |
11: 116,136,638 (GRCm39) |
D552G |
probably damaging |
Het |
Syde2 |
G |
T |
3: 145,707,764 (GRCm39) |
A568S |
probably damaging |
Het |
Szrd1 |
G |
T |
4: 140,867,092 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
T |
4: 118,226,813 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
A |
G |
15: 57,818,797 (GRCm39) |
E800G |
probably benign |
Het |
Tmprss11d |
C |
A |
5: 86,457,122 (GRCm39) |
|
probably null |
Het |
Usp37 |
A |
G |
1: 74,480,720 (GRCm39) |
V895A |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,026 (GRCm39) |
I193T |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,897,834 (GRCm39) |
V283A |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,814,811 (GRCm39) |
G3180D |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,344,821 (GRCm39) |
D2354A |
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,723,465 (GRCm39) |
|
probably null |
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 |
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'- ACTGGGTATGTGGGAAGCTC -3'
(R):5'- GTATTTCCACGGCTTCATGATAC -3'
Sequencing Primer
(F):5'- ATGTGGGAAGCTCAGCCTGTC -3'
(R):5'- CCCAAGCCAACATTTGAGTAGTGG -3'
|
Posted On |
2016-07-22 |