Incidental Mutation 'R3811:Agbl3'
| ID |
275195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
4930431N21Rik, 2900053G10Rik, 6530406M24Rik |
| MMRRC Submission |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34780432-34859459 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34799729 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 385
(S385I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: S390I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: S390I
| 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 damaging
Transcript: ENSMUST00000115017
AA Change: S385I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: S385I
| 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: ENSMUST00000135304
|
| SMART Domains |
Protein: ENSMUSP00000118303
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143474
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202017
|
| Meta Mutation Damage Score |
0.2991 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 67,896,093 (GRCm38) |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,289,086 (GRCm38) |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,443,305 (GRCm38) |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,203,652 (GRCm38) |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,176,170 (GRCm38) |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 (GRCm38) |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,931,306 (GRCm38) |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,604,649 (GRCm38) |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,191,498 (GRCm38) |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,779,124 (GRCm38) |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,186,180 (GRCm38) |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 105,032,888 (GRCm38) |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 4,776,499 (GRCm38) |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,130,357 (GRCm38) |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,649,577 (GRCm38) |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,773,065 (GRCm38) |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,579,035 (GRCm38) |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,291,615 (GRCm38) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,262,708 (GRCm38) |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,708,854 (GRCm38) |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 (GRCm38) |
K1044* |
probably null |
Het |
| Med23 |
A |
T |
10: 24,892,592 (GRCm38) |
R77* |
probably null |
Het |
| Med23 |
G |
A |
10: 24,892,593 (GRCm38) |
|
probably null |
Het |
| Metap2 |
A |
T |
10: 93,870,164 (GRCm38) |
L252* |
probably null |
Het |
| Olfr1066 |
A |
T |
2: 86,455,347 (GRCm38) |
V308E |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,132,715 (GRCm38) |
V828D |
probably damaging |
Het |
| Psmd9 |
C |
T |
5: 123,234,590 (GRCm38) |
|
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,492,587 (GRCm38) |
V59A |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,373,679 (GRCm38) |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,614,736 (GRCm38) |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,817,164 (GRCm38) |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 7,977,017 (GRCm38) |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,629,037 (GRCm38) |
D70G |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,523,405 (GRCm38) |
K99E |
probably benign |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,846,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34,799,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34,799,159 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34,799,887 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,846,976 (GRCm38) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,839,454 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,782,157 (GRCm38) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,799,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,785,307 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,823,071 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,799,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,857,659 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,803,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,799,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,839,335 (GRCm38) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,799,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,799,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,803,451 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,828,235 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,857,517 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,832,505 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,846,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,823,087 (GRCm38) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,823,087 (GRCm38) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,793,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,799,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,846,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,857,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,798,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,785,284 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,814,752 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,799,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,803,573 (GRCm38) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,799,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,857,753 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,782,210 (GRCm38) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,803,594 (GRCm38) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,799,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,846,953 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,839,452 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,814,769 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,814,819 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,814,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7631:Agbl3
|
UTSW |
6 |
34,857,671 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7658:Agbl3
|
UTSW |
6 |
34,832,508 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,846,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,839,365 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,839,494 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,799,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,857,614 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34,799,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34,799,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,798,242 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,812,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34,846,926 (GRCm38) |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34,846,908 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,832,533 (GRCm38) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,799,358 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,799,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTCTTGTGTCACACAC -3'
(R):5'- TCTGTTTCATCACTGAAGGGAAAG -3'
Sequencing Primer
(F):5'- GTGTCACACACTTGCCAGGAATATG -3'
(R):5'- TCATCACTGAAGGGAAAGAGTTTTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation