Incidental Mutation 'IGL03182:Agbl3'
| ID |
412277 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
4930431N21Rik, 2900053G10Rik, 6530406M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34780432-34859459 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34803500 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 469
(K469N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: K469N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: K469N
| 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: K464N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: K464N
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh2 |
A |
G |
5: 121,580,724 |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,728,754 |
|
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,578,774 |
T209I |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,165,887 |
V754I |
probably benign |
Het |
| Arfgef3 |
C |
T |
10: 18,600,544 |
R1509H |
probably damaging |
Het |
| AU019823 |
T |
C |
9: 50,612,398 |
N50S |
possibly damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,151,832 |
S30P |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,504,550 |
E369D |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,394,487 |
Y236C |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,247,527 |
L717F |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,030,291 |
I2340N |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,860,138 |
E889G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,812,726 |
Y1560C |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,461,768 |
M623K |
possibly damaging |
Het |
| Gm21970 |
T |
A |
16: 91,393,838 |
S110T |
possibly damaging |
Het |
| Gm826 |
T |
A |
2: 160,327,115 |
R91S |
unknown |
Het |
| Lrrn3 |
A |
G |
12: 41,454,021 |
L99S |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,347,348 |
M1552K |
possibly damaging |
Het |
| Mgll |
G |
T |
6: 88,823,191 |
V191F |
probably damaging |
Het |
| Nol8 |
C |
A |
13: 49,664,081 |
H778N |
probably damaging |
Het |
| Olfr1090 |
A |
T |
2: 86,754,022 |
S239T |
probably damaging |
Het |
| Olfr1471 |
A |
C |
19: 13,445,443 |
T144P |
possibly damaging |
Het |
| Olfr385 |
T |
A |
11: 73,589,442 |
T99S |
probably benign |
Het |
| Olfr948 |
A |
T |
9: 39,318,981 |
M211K |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,501,663 |
I13N |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,491,766 |
D114E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,573,818 |
L1493P |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,344,915 |
|
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,702,594 |
Y872* |
probably null |
Het |
| Rictor |
A |
G |
15: 6,789,598 |
D1434G |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,725,145 |
G162R |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,765,818 |
D424G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,220,053 |
I475V |
possibly damaging |
Het |
| Snx31 |
G |
T |
15: 36,525,687 |
Q289K |
probably benign |
Het |
| Tbc1d13 |
G |
A |
2: 30,147,367 |
A254T |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,851,765 |
I750T |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,471,398 |
L1296* |
probably null |
Het |
| Tmem145 |
T |
A |
7: 25,314,879 |
F459I |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 104,054,129 |
V247D |
possibly damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,321,690 |
M147V |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,139 |
D783G |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,701,005 |
S1198P |
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 |
|
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 |
|
R3811: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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation