Incidental Mutation 'R9536:Agbl3'
| ID |
719688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34823861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 847
(R847M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115016
AA Change: R847M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: R847M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
314 |
563 |
2.7e-19 |
PFAM |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115017
AA Change: R842M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: R842M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
309 |
560 |
1e-33 |
PFAM |
|
low complexity region
|
609 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148834
|
| SMART Domains |
Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,623 (GRCm39) |
L259F |
probably damaging |
Het |
| Adamts6 |
A |
C |
13: 104,489,313 (GRCm39) |
I389L |
probably benign |
Het |
| Adcy7 |
A |
T |
8: 89,053,026 (GRCm39) |
E974V |
possibly damaging |
Het |
| Ank2 |
T |
G |
3: 126,736,031 (GRCm39) |
Q3284H |
unknown |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,974,305 (GRCm39) |
E2336D |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,286,792 (GRCm39) |
S109P |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,749 (GRCm39) |
F578S |
probably damaging |
Het |
| Chid1 |
A |
G |
7: 141,093,755 (GRCm39) |
V287A |
probably benign |
Het |
| Cyp26b1 |
T |
G |
6: 84,553,999 (GRCm39) |
D206A |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,329,758 (GRCm39) |
K334* |
probably null |
Het |
| Drd3 |
T |
C |
16: 43,637,368 (GRCm39) |
V189A |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,309,262 (GRCm39) |
I728T |
unknown |
Het |
| Frem3 |
G |
A |
8: 81,342,048 (GRCm39) |
G1447D |
probably benign |
Het |
| Gck |
T |
C |
11: 5,852,307 (GRCm39) |
D344G |
possibly damaging |
Het |
| Gimap9 |
T |
A |
6: 48,654,416 (GRCm39) |
M1K |
probably null |
Het |
| Glb1l3 |
T |
C |
9: 26,770,929 (GRCm39) |
T46A |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,918,861 (GRCm39) |
T198A |
unknown |
Het |
| Gphn |
T |
G |
12: 78,609,636 (GRCm39) |
S327A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,335,130 (GRCm39) |
S4356P |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,458,840 (GRCm39) |
M26K |
|
Het |
| Iqsec1 |
A |
G |
6: 90,666,659 (GRCm39) |
Y489H |
probably damaging |
Het |
| Lars1 |
T |
A |
18: 42,376,046 (GRCm39) |
R255* |
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,672,672 (GRCm39) |
H546Y |
probably damaging |
Het |
| Or2c1 |
T |
A |
16: 3,657,438 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or52a5b |
A |
T |
7: 103,416,779 (GRCm39) |
V275E |
probably damaging |
Het |
| Or5p61 |
T |
C |
7: 107,759,075 (GRCm39) |
I2V |
probably benign |
Het |
| Or6c33 |
G |
A |
10: 129,853,345 (GRCm39) |
M38I |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,416,554 (GRCm39) |
C691S |
probably benign |
Het |
| Pcbp3 |
G |
A |
10: 76,599,225 (GRCm39) |
L304F |
possibly damaging |
Het |
| Pramel34 |
G |
C |
5: 93,784,289 (GRCm39) |
L392V |
probably damaging |
Het |
| Rpl5 |
T |
A |
5: 108,051,721 (GRCm39) |
S172T |
probably benign |
Het |
| Rps2 |
C |
T |
17: 24,940,851 (GRCm39) |
H297Y |
unknown |
Het |
| Scp2 |
A |
T |
4: 107,928,532 (GRCm39) |
V386E |
possibly damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,986,420 (GRCm39) |
V381E |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
| Tat |
T |
A |
8: 110,722,711 (GRCm39) |
C258S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,147 (GRCm39) |
N151D |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,124,044 (GRCm39) |
I46F |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,764,123 (GRCm39) |
D243V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,739,017 (GRCm39) |
N3887Y |
unknown |
Het |
| Ubap2 |
A |
G |
4: 41,195,661 (GRCm39) |
S1020P |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,537 (GRCm39) |
M22L |
probably benign |
Het |
| V1rd19 |
A |
T |
7: 23,703,253 (GRCm39) |
I240F |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,414,449 (GRCm39) |
P275L |
probably damaging |
Het |
| Zfp386 |
G |
A |
12: 116,023,686 (GRCm39) |
C468Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,312,345 (GRCm39) |
H89Q |
probably benign |
Het |
| Zfyve26 |
T |
A |
12: 79,298,046 (GRCm39) |
N1881I |
probably benign |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,823,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34,776,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34,776,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34,776,822 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,823,911 (GRCm39) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,816,389 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,759,092 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,776,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,762,242 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,800,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,776,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,834,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,780,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,776,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,816,270 (GRCm39) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,776,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,776,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,780,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,805,170 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,834,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,809,440 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,823,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,823,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,834,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,775,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,762,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,791,687 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,776,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,780,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,776,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,834,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,759,145 (GRCm39) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,780,529 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,776,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,823,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,816,387 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,791,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,791,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,791,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34,834,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34,809,443 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,823,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,816,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,816,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,776,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,834,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,775,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Agbl3
|
UTSW |
6 |
34,823,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,809,468 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,776,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,776,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATATTTGTGGTTGCTCCCTAGAG -3'
(R):5'- ACAAGCCGTGCTTCCTTATAAAAC -3'
Sequencing Primer
(F):5'- TCCCTAGAGTCACATCACCAGTTG -3'
(R):5'- ATAGCATACACAAGGGCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation