Incidental Mutation 'IGL02551:Agbl3'
ID |
298104 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Agbl3
|
Ensembl Gene |
ENSMUSG00000038836 |
Gene Name |
ATP/GTP binding protein-like 3 |
Synonyms |
Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02551
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34800006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 638
(K638R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
AlphaFold |
Q8CDP0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115016
AA Change: K638R
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836 AA Change: K638R
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: K633R
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836 AA Change: K633R
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 |
noncoding transcript
Transcript: ENSMUST00000202017
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
G |
A |
1: 158,796,618 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
T |
C |
11: 109,975,068 (GRCm39) |
I109V |
probably benign |
Het |
Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
Adamts18 |
C |
A |
8: 114,425,704 (GRCm39) |
C1186F |
probably damaging |
Het |
Adamts5 |
A |
T |
16: 85,666,926 (GRCm39) |
V522E |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,370,802 (GRCm39) |
T694A |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,609,250 (GRCm39) |
V609I |
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,505,822 (GRCm39) |
N66I |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,554,599 (GRCm39) |
I245N |
probably damaging |
Het |
Aqp9 |
A |
G |
9: 71,039,922 (GRCm39) |
V120A |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,579,553 (GRCm39) |
E465G |
probably damaging |
Het |
Btrc |
G |
T |
19: 45,411,573 (GRCm39) |
C31F |
possibly damaging |
Het |
Calhm2 |
G |
A |
19: 47,121,539 (GRCm39) |
S210L |
probably damaging |
Het |
Cnksr3 |
C |
A |
10: 7,102,912 (GRCm39) |
K153N |
probably damaging |
Het |
Cnr1 |
T |
C |
4: 33,943,686 (GRCm39) |
S25P |
probably benign |
Het |
Dnajc6 |
T |
A |
4: 101,496,550 (GRCm39) |
W838R |
probably damaging |
Het |
Fam78a |
T |
A |
2: 31,959,568 (GRCm39) |
T181S |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,504,435 (GRCm39) |
T4600A |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,293,083 (GRCm39) |
Y101N |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,232,389 (GRCm39) |
M1V |
probably null |
Het |
Gsdmc |
T |
A |
15: 63,673,782 (GRCm39) |
T168S |
probably benign |
Het |
Has1 |
C |
T |
17: 18,068,560 (GRCm39) |
V265I |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,344,823 (GRCm39) |
D4670G |
possibly damaging |
Het |
Kcnj4 |
C |
T |
15: 79,369,103 (GRCm39) |
M292I |
probably benign |
Het |
Kmo |
A |
T |
1: 175,465,485 (GRCm39) |
S80C |
probably damaging |
Het |
Lrrc8d |
C |
T |
5: 105,961,414 (GRCm39) |
T608I |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,923,197 (GRCm39) |
N635I |
probably benign |
Het |
Nags |
T |
C |
11: 102,038,767 (GRCm39) |
S403P |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
Ncan |
A |
T |
8: 70,555,112 (GRCm39) |
N1018K |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,373,705 (GRCm39) |
|
probably benign |
Het |
Nup93 |
C |
T |
8: 94,954,461 (GRCm39) |
Q53* |
probably null |
Het |
Pdk2 |
T |
A |
11: 94,919,412 (GRCm39) |
M288L |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,792,789 (GRCm39) |
Y1492C |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,239,692 (GRCm39) |
W34R |
probably damaging |
Het |
Pla2g6 |
T |
A |
15: 79,183,294 (GRCm39) |
D511V |
possibly damaging |
Het |
Plin2 |
C |
A |
4: 86,576,929 (GRCm39) |
M265I |
probably benign |
Het |
Ppp6c |
A |
T |
2: 39,096,669 (GRCm39) |
F78I |
probably damaging |
Het |
Prop1 |
A |
T |
11: 50,841,773 (GRCm39) |
M211K |
possibly damaging |
Het |
Prr14l |
T |
A |
5: 32,988,828 (GRCm39) |
E222D |
probably damaging |
Het |
Rtkn |
A |
T |
6: 83,128,905 (GRCm39) |
I454F |
probably damaging |
Het |
Serinc2 |
T |
C |
4: 130,154,567 (GRCm39) |
I226V |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,788,538 (GRCm39) |
H229Q |
probably benign |
Het |
Slc13a3 |
G |
T |
2: 165,266,493 (GRCm39) |
F348L |
probably damaging |
Het |
Slc6a15 |
T |
A |
10: 103,240,136 (GRCm39) |
|
probably benign |
Het |
Spg7 |
G |
A |
8: 123,803,717 (GRCm39) |
G249E |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,649,916 (GRCm39) |
D40G |
probably benign |
Het |
Tmcc2 |
A |
G |
1: 132,285,317 (GRCm39) |
L683P |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,857,689 (GRCm39) |
S1097P |
probably benign |
Het |
Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
Ttll6 |
T |
C |
11: 96,045,526 (GRCm39) |
I581T |
probably benign |
Het |
Usp29 |
A |
G |
7: 6,966,352 (GRCm39) |
|
probably null |
Het |
Vgll4 |
A |
G |
6: 114,839,254 (GRCm39) |
W246R |
probably damaging |
Het |
Vmn2r26 |
T |
C |
6: 124,003,100 (GRCm39) |
V170A |
probably benign |
Het |
Vmn2r62 |
T |
C |
7: 42,437,930 (GRCm39) |
T185A |
probably benign |
Het |
Vwce |
A |
G |
19: 10,622,400 (GRCm39) |
H234R |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,806,462 (GRCm39) |
E2194G |
possibly 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 |
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 |
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 |
|
Posted On |
2015-04-16 |