Incidental Mutation 'R3236:Agbl3'
ID |
259026 |
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 |
040618-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3236 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 34800022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115016]
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000115017]
[ENSMUST00000115017]
[ENSMUST00000148834]
[ENSMUST00000148834]
[ENSMUST00000148834]
|
AlphaFold |
Q8CDP0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000115016
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836
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 null
Transcript: ENSMUST00000115016
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836
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 null
Transcript: ENSMUST00000115016
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836
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 null
Transcript: ENSMUST00000115017
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836
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 null
Transcript: ENSMUST00000115017
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836
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 null
Transcript: ENSMUST00000115017
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836
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 |
noncoding transcript
Transcript: ENSMUST00000118782
|
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 |
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 |
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: ENSMUST00000202017
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (64/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
5730455P16Rik |
G |
A |
11: 80,258,996 (GRCm39) |
L255F |
probably damaging |
Het |
Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
Armh3 |
A |
T |
19: 45,963,722 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
A |
9: 53,391,048 (GRCm39) |
D1842V |
probably benign |
Het |
Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,397,995 (GRCm39) |
T243A |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,718,949 (GRCm39) |
N268K |
unknown |
Het |
Col6a1 |
G |
A |
10: 76,547,154 (GRCm39) |
T737M |
unknown |
Het |
Cyp3a25 |
T |
C |
5: 145,939,938 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
Ecm1 |
G |
T |
3: 95,642,158 (GRCm39) |
Q476K |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,781,097 (GRCm39) |
|
probably null |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
Gm5478 |
A |
G |
15: 101,552,738 (GRCm39) |
Y398H |
probably damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,131,798 (GRCm39) |
|
probably null |
Het |
Kdm6b |
A |
G |
11: 69,297,192 (GRCm39) |
Y387H |
probably damaging |
Het |
Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
Lrig3 |
G |
A |
10: 125,833,056 (GRCm39) |
C310Y |
probably damaging |
Het |
Map6 |
T |
A |
7: 98,986,031 (GRCm39) |
V645E |
probably damaging |
Het |
Memo1 |
A |
T |
17: 74,509,347 (GRCm39) |
I224K |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,633,612 (GRCm39) |
I602T |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
Ndrg3 |
T |
A |
2: 156,785,957 (GRCm39) |
I161F |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,435 (GRCm39) |
R214G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,127 (GRCm39) |
E133G |
possibly damaging |
Het |
Or4p7 |
T |
C |
2: 88,221,750 (GRCm39) |
I53T |
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,328,597 (GRCm39) |
V243A |
probably damaging |
Het |
Piwil4 |
A |
G |
9: 14,611,544 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pon2 |
A |
T |
6: 5,266,986 (GRCm39) |
N252K |
possibly damaging |
Het |
Ptf1a |
T |
C |
2: 19,450,718 (GRCm39) |
F16S |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,122,293 (GRCm39) |
Y366H |
probably benign |
Het |
Rbfox1 |
G |
A |
16: 7,225,892 (GRCm39) |
V353I |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scaf4 |
T |
A |
16: 90,057,105 (GRCm39) |
D82V |
unknown |
Het |
Serhl |
C |
A |
15: 82,988,604 (GRCm39) |
P177Q |
probably damaging |
Het |
Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,538,652 (GRCm39) |
S1123P |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,668,607 (GRCm39) |
I453V |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,063,802 (GRCm39) |
D660E |
probably damaging |
Het |
Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
Speer4e1 |
T |
A |
5: 14,984,939 (GRCm39) |
E206D |
possibly damaging |
Het |
Stard6 |
T |
A |
18: 70,633,557 (GRCm39) |
M188K |
probably damaging |
Het |
Stat6 |
G |
A |
10: 127,488,091 (GRCm39) |
V282I |
possibly damaging |
Het |
Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
Thsd4 |
C |
A |
9: 60,301,670 (GRCm39) |
K208N |
probably benign |
Het |
Thsd7b |
C |
T |
1: 130,145,855 (GRCm39) |
Q1588* |
probably null |
Het |
Tmem167 |
C |
T |
13: 90,252,499 (GRCm39) |
R52C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,729,753 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,315,372 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r24 |
C |
T |
6: 123,755,984 (GRCm39) |
Q19* |
probably null |
Het |
Vps13b |
G |
A |
15: 35,910,450 (GRCm39) |
E3405K |
probably benign |
Het |
Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
probably damaging |
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 |
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 |
R9536:Agbl3
|
UTSW |
6 |
34,823,861 (GRCm39) |
missense |
probably benign |
|
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'- CCATTTCTAAATTGTCTGAGGCCAC -3'
(R):5'- ACAAGTGAGGTAAATTAGGTCACC -3'
Sequencing Primer
(F):5'- TGTCTGAGGCCACCAAATAATAAAG -3'
(R):5'- GGTCACCATATCTGACATTAACAAG -3'
|
Posted On |
2015-01-23 |