Incidental Mutation 'R7459:Agbl1'
| ID |
578316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl1
|
| Ensembl Gene |
ENSMUSG00000025754 |
| Gene Name |
ATP/GTP binding protein-like 1 |
| Synonyms |
Nna1-l1, Ccp4, EG244071 |
| MMRRC Submission |
045533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76069814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 449
(D449N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000156166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
not run
Transcript: ENSMUST00000156166
AA Change: D449N
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: D449N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
PHENOTYPE: 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 |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,756,933 (GRCm39) |
V730E |
probably damaging |
Het |
| Agr2 |
A |
T |
12: 36,047,452 (GRCm39) |
E96V |
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,114,862 (GRCm39) |
S308A |
probably benign |
Het |
| Birc7 |
T |
C |
2: 180,571,150 (GRCm39) |
S71P |
possibly damaging |
Het |
| Brme1 |
T |
G |
8: 84,893,981 (GRCm39) |
S383A |
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,829,275 (GRCm39) |
I73V |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,167,198 (GRCm39) |
T177K |
possibly damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,767,820 (GRCm39) |
Q665* |
probably null |
Het |
| Cd79a |
A |
T |
7: 24,598,567 (GRCm39) |
T39S |
possibly damaging |
Het |
| Ces5a |
C |
A |
8: 94,262,369 (GRCm39) |
|
probably benign |
Het |
| Dkk2 |
C |
A |
3: 131,880,790 (GRCm39) |
T145N |
probably benign |
Het |
| Dot1l |
C |
T |
10: 80,609,007 (GRCm39) |
A188V |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,846,967 (GRCm39) |
V788D |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,240,117 (GRCm39) |
H109L |
probably benign |
Het |
| Fam234b |
C |
T |
6: 135,188,899 (GRCm39) |
T168I |
probably benign |
Het |
| Fan1 |
G |
T |
7: 63,998,714 (GRCm39) |
S936Y |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,745 (GRCm39) |
E1098G |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,710 (GRCm39) |
D2226G |
possibly damaging |
Het |
| Flacc1 |
T |
G |
1: 58,730,911 (GRCm39) |
E48D |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,831 (GRCm39) |
V69A |
probably benign |
Het |
| Foxb2 |
T |
A |
19: 16,850,436 (GRCm39) |
H190L |
unknown |
Het |
| Fut4 |
C |
T |
9: 14,662,602 (GRCm39) |
V231M |
possibly damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,542,426 (GRCm39) |
A91V |
probably benign |
Het |
| Hip1 |
A |
G |
5: 135,443,151 (GRCm39) |
S961P |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,687,577 (GRCm39) |
H11Q |
probably benign |
Het |
| Ighv1-84 |
C |
T |
12: 115,944,432 (GRCm39) |
E81K |
probably benign |
Het |
| Isg20l2 |
T |
C |
3: 87,839,485 (GRCm39) |
L232P |
possibly damaging |
Het |
| Isx |
A |
G |
8: 75,619,392 (GRCm39) |
Y181C |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,348,109 (GRCm39) |
Y644C |
probably damaging |
Het |
| Lin7c |
T |
A |
2: 109,727,682 (GRCm39) |
V177D |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,739,220 (GRCm39) |
S343P |
probably benign |
Het |
| Mat1a |
A |
T |
14: 40,842,141 (GRCm39) |
Q246L |
probably benign |
Het |
| Mlkl |
T |
C |
8: 112,060,162 (GRCm39) |
I75V |
probably benign |
Het |
| Ndufa7 |
T |
A |
17: 34,057,140 (GRCm39) |
S107T |
probably damaging |
Het |
| Niban3 |
T |
A |
8: 72,057,671 (GRCm39) |
C516S |
possibly damaging |
Het |
| Nip7 |
T |
A |
8: 107,783,968 (GRCm39) |
C69* |
probably null |
Het |
| Nipa2 |
A |
T |
7: 55,583,089 (GRCm39) |
W219R |
probably damaging |
Het |
| Oas2 |
A |
C |
5: 120,887,775 (GRCm39) |
S22A |
unknown |
Het |
| Obscn |
A |
G |
11: 59,022,483 (GRCm39) |
V754A |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,461,012 (GRCm39) |
P77S |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 13,066,642 (GRCm39) |
C39Y |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,606 (GRCm39) |
Y522F |
probably benign |
Het |
| Pced1a |
T |
G |
2: 130,261,744 (GRCm39) |
D303A |
possibly damaging |
Het |
| Peli1 |
T |
A |
11: 21,098,190 (GRCm39) |
Y308* |
probably null |
Het |
| Pfas |
T |
A |
11: 68,879,481 (GRCm39) |
R243W |
|
Het |
| Pik3r5 |
C |
A |
11: 68,383,416 (GRCm39) |
Q412K |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,852,428 (GRCm39) |
I1135N |
|
Het |
| Prune1 |
C |
A |
3: 95,189,021 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,587,564 (GRCm39) |
K926N |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,269,329 (GRCm39) |
N277S |
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,964,410 (GRCm39) |
D255V |
possibly damaging |
Het |
| Rgs20 |
A |
G |
1: 4,980,857 (GRCm39) |
V187A |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,543,391 (GRCm39) |
E242G |
probably benign |
Het |
| Rims2 |
T |
G |
15: 39,381,235 (GRCm39) |
S1055R |
probably benign |
Het |
| Rnf146 |
T |
C |
10: 29,223,640 (GRCm39) |
D82G |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,016 (GRCm39) |
S455G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,080,057 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,007,122 (GRCm39) |
K31E |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,592,672 (GRCm39) |
I449T |
probably damaging |
Het |
| Slc5a3 |
A |
T |
16: 91,875,905 (GRCm39) |
Y654F |
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,977 (GRCm39) |
L264F |
possibly damaging |
Het |
| Spats2l |
A |
T |
1: 57,838,512 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
A |
C |
5: 150,971,064 (GRCm39) |
S848A |
probably damaging |
Het |
| Stat2 |
A |
G |
10: 128,112,434 (GRCm39) |
S25G |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,186,050 (GRCm39) |
R1129Q |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
| Tmem266 |
T |
C |
9: 55,303,883 (GRCm39) |
L3P |
unknown |
Het |
| Tns3 |
A |
T |
11: 8,442,793 (GRCm39) |
D523E |
probably benign |
Het |
| Trim3 |
A |
T |
7: 105,267,015 (GRCm39) |
S455T |
probably damaging |
Het |
| Trim31 |
T |
C |
17: 37,220,554 (GRCm39) |
V490A |
probably damaging |
Het |
| Trmt11 |
A |
C |
10: 30,466,039 (GRCm39) |
N168K |
probably benign |
Het |
| Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,749,482 (GRCm39) |
D3856Y |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,169,227 (GRCm39) |
D377N |
probably damaging |
Het |
| Ubl7 |
A |
G |
9: 57,821,875 (GRCm39) |
T75A |
probably damaging |
Het |
| Ugt2b34 |
T |
G |
5: 87,049,134 (GRCm39) |
D297A |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,314,458 (GRCm39) |
H800L |
possibly damaging |
Het |
| Utp3 |
C |
A |
5: 88,703,412 (GRCm39) |
L314M |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,337 (GRCm39) |
Y27H |
probably damaging |
Het |
|
| Other mutations in Agbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01567:Agbl1
|
APN |
7 |
76,071,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01650:Agbl1
|
APN |
7 |
76,070,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Agbl1
|
APN |
7 |
76,416,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Agbl1
|
APN |
7 |
76,369,890 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03143:Agbl1
|
APN |
7 |
76,069,793 (GRCm39) |
nonsense |
probably null |
|
|
IGL03306:Agbl1
|
APN |
7 |
76,239,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Agbl1
|
UTSW |
7 |
76,069,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0045:Agbl1
|
UTSW |
7 |
76,348,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0045:Agbl1
|
UTSW |
7 |
76,348,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0541:Agbl1
|
UTSW |
7 |
76,058,993 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1889:Agbl1
|
UTSW |
7 |
76,239,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Agbl1
|
UTSW |
7 |
76,239,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2091:Agbl1
|
UTSW |
7 |
76,239,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2091:Agbl1
|
UTSW |
7 |
76,239,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2127:Agbl1
|
UTSW |
7 |
76,069,628 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2148:Agbl1
|
UTSW |
7 |
76,064,465 (GRCm39) |
splice site |
probably null |
|
|
R2229:Agbl1
|
UTSW |
7 |
76,083,126 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2243:Agbl1
|
UTSW |
7 |
76,068,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2255:Agbl1
|
UTSW |
7 |
76,071,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Agbl1
|
UTSW |
7 |
76,369,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Agbl1
|
UTSW |
7 |
76,071,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Agbl1
|
UTSW |
7 |
76,239,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2910:Agbl1
|
UTSW |
7 |
76,069,586 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2919:Agbl1
|
UTSW |
7 |
76,064,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Agbl1
|
UTSW |
7 |
76,416,232 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3153:Agbl1
|
UTSW |
7 |
76,369,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Agbl1
|
UTSW |
7 |
76,075,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3825:Agbl1
|
UTSW |
7 |
76,069,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4632:Agbl1
|
UTSW |
7 |
76,063,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4857:Agbl1
|
UTSW |
7 |
76,069,583 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4943:Agbl1
|
UTSW |
7 |
76,069,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5055:Agbl1
|
UTSW |
7 |
76,063,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Agbl1
|
UTSW |
7 |
76,071,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Agbl1
|
UTSW |
7 |
76,071,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Agbl1
|
UTSW |
7 |
76,071,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Agbl1
|
UTSW |
7 |
76,369,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5133:Agbl1
|
UTSW |
7 |
76,071,904 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5576:Agbl1
|
UTSW |
7 |
75,984,985 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5665:Agbl1
|
UTSW |
7 |
76,239,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Agbl1
|
UTSW |
7 |
75,974,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5924:Agbl1
|
UTSW |
7 |
76,058,982 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6044:Agbl1
|
UTSW |
7 |
75,967,868 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6117:Agbl1
|
UTSW |
7 |
76,348,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Agbl1
|
UTSW |
7 |
76,069,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6368:Agbl1
|
UTSW |
7 |
76,069,578 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6806:Agbl1
|
UTSW |
7 |
76,075,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Agbl1
|
UTSW |
7 |
76,074,503 (GRCm39) |
missense |
unknown |
|
|
R7485:Agbl1
|
UTSW |
7 |
76,239,241 (GRCm39) |
missense |
unknown |
|
|
R7516:Agbl1
|
UTSW |
7 |
76,075,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Agbl1
|
UTSW |
7 |
76,075,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7561:Agbl1
|
UTSW |
7 |
76,348,509 (GRCm39) |
missense |
unknown |
|
|
R7630:Agbl1
|
UTSW |
7 |
76,535,904 (GRCm39) |
missense |
unknown |
|
|
R7655:Agbl1
|
UTSW |
7 |
76,059,080 (GRCm39) |
missense |
|
|
|
R7656:Agbl1
|
UTSW |
7 |
76,059,080 (GRCm39) |
missense |
|
|
|
R7658:Agbl1
|
UTSW |
7 |
76,416,117 (GRCm39) |
missense |
unknown |
|
|
R7681:Agbl1
|
UTSW |
7 |
76,094,649 (GRCm39) |
missense |
unknown |
|
|
R7694:Agbl1
|
UTSW |
7 |
76,348,513 (GRCm39) |
missense |
unknown |
|
|
R7773:Agbl1
|
UTSW |
7 |
76,348,585 (GRCm39) |
missense |
unknown |
|
|
R7981:Agbl1
|
UTSW |
7 |
76,094,588 (GRCm39) |
missense |
unknown |
|
|
R8208:Agbl1
|
UTSW |
7 |
76,369,916 (GRCm39) |
missense |
unknown |
|
|
R8317:Agbl1
|
UTSW |
7 |
76,071,929 (GRCm39) |
missense |
unknown |
|
|
R8406:Agbl1
|
UTSW |
7 |
76,068,415 (GRCm39) |
missense |
|
|
|
R8432:Agbl1
|
UTSW |
7 |
76,774,434 (GRCm39) |
missense |
unknown |
|
|
R8704:Agbl1
|
UTSW |
7 |
76,239,302 (GRCm39) |
splice site |
probably benign |
|
|
R8830:Agbl1
|
UTSW |
7 |
75,985,059 (GRCm39) |
missense |
|
|
|
R8985:Agbl1
|
UTSW |
7 |
75,969,904 (GRCm39) |
missense |
|
|
|
R9113:Agbl1
|
UTSW |
7 |
76,239,225 (GRCm39) |
missense |
unknown |
|
|
R9170:Agbl1
|
UTSW |
7 |
75,985,069 (GRCm39) |
missense |
|
|
|
R9229:Agbl1
|
UTSW |
7 |
76,774,270 (GRCm39) |
missense |
unknown |
|
|
R9255:Agbl1
|
UTSW |
7 |
76,416,150 (GRCm39) |
missense |
unknown |
|
|
R9391:Agbl1
|
UTSW |
7 |
76,071,602 (GRCm39) |
missense |
unknown |
|
|
R9646:Agbl1
|
UTSW |
7 |
76,075,648 (GRCm39) |
missense |
unknown |
|
|
Z1088:Agbl1
|
UTSW |
7 |
76,069,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Agbl1
|
UTSW |
7 |
76,068,433 (GRCm39) |
missense |
|
|
|
Z1177:Agbl1
|
UTSW |
7 |
76,369,954 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2019-10-07 |
Incidental Mutation