Incidental Mutation 'R0001:Agbl1'
| ID |
32239 |
| 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 |
038297-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0001 (G1)
|
| Quality Score |
131 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76069611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 367
(H367L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026854]
[ENSMUST00000107442]
[ENSMUST00000156166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026854
AA Change: H129L
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: H129L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
493 |
631 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107442
AA Change: H129L
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: H129L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
494 |
754 |
3.1e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156166
AA Change: H381L
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: H381L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166190
AA Change: H367L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
AA Change: H367L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
737 |
871 |
7.4e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.1055 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,534 (GRCm39) |
|
probably benign |
Het |
| A4galt |
A |
G |
15: 83,112,490 (GRCm39) |
F98L |
probably benign |
Het |
| Abca4 |
T |
G |
3: 121,874,660 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,342,894 (GRCm39) |
|
probably benign |
Het |
| Apoa4 |
C |
A |
9: 46,154,190 (GRCm39) |
Q264K |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,210,626 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,554,232 (GRCm39) |
R939L |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,286,300 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ciita |
A |
T |
16: 10,332,297 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,592 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,507,105 (GRCm39) |
D215G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,280,586 (GRCm39) |
S1218P |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,626,205 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
A |
G |
14: 63,373,071 (GRCm39) |
E76G |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,205,659 (GRCm39) |
C161R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,090 (GRCm39) |
L1211P |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,338,382 (GRCm39) |
T759K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,964 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,491,440 (GRCm39) |
E226K |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,095,864 (GRCm39) |
K453* |
probably null |
Het |
| Epha7 |
T |
C |
4: 28,961,279 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,169 (GRCm39) |
D118G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,398,931 (GRCm39) |
Q159L |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,781 (GRCm39) |
H194N |
possibly damaging |
Het |
| Fut8 |
A |
T |
12: 77,522,089 (GRCm39) |
*576L |
probably null |
Het |
| Galns |
T |
C |
8: 123,322,622 (GRCm39) |
|
probably benign |
Het |
| Gamt |
G |
A |
10: 80,094,895 (GRCm39) |
|
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,652,961 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,850,600 (GRCm39) |
H330Q |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,156,931 (GRCm39) |
Y1024S |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,787 (GRCm39) |
I229V |
probably benign |
Het |
| Katnal1 |
A |
G |
5: 148,858,085 (GRCm39) |
S42P |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,349,298 (GRCm39) |
D142V |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,681,417 (GRCm39) |
R470W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,817 (GRCm39) |
S344G |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
C |
T |
12: 57,507,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,901 (GRCm39) |
V1378M |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,748 (GRCm39) |
D762V |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,303 (GRCm39) |
T43A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,227,841 (GRCm39) |
T1316A |
possibly damaging |
Het |
| Naip5 |
A |
G |
13: 100,351,158 (GRCm39) |
|
probably null |
Het |
| Naip5 |
C |
A |
13: 100,359,622 (GRCm39) |
S538I |
probably benign |
Het |
| Nek3 |
A |
T |
8: 22,648,628 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,585 (GRCm39) |
S948P |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,169,822 (GRCm39) |
H193L |
probably benign |
Het |
| Or52h1 |
T |
A |
7: 103,828,680 (GRCm39) |
K312* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,183 (GRCm39) |
K97E |
possibly damaging |
Het |
| Patl2 |
G |
A |
2: 121,956,191 (GRCm39) |
|
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,557,042 (GRCm39) |
R791W |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,355,265 (GRCm39) |
|
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,534,749 (GRCm39) |
V73D |
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,818,610 (GRCm39) |
H281L |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,502,257 (GRCm39) |
|
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,264,006 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,585,416 (GRCm39) |
F783S |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,619,623 (GRCm39) |
R125G |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,223 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,527,562 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
G |
A |
11: 53,918,829 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Spmip5 |
G |
A |
19: 58,777,603 (GRCm39) |
A61V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,066,460 (GRCm39) |
T3208I |
possibly damaging |
Het |
| Tgm5 |
G |
T |
2: 120,908,127 (GRCm39) |
D16E |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,010,886 (GRCm39) |
N558D |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,835,511 (GRCm39) |
L507Q |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,692,695 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,662,433 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,179,099 (GRCm39) |
L3316Q |
probably damaging |
Het |
| Uckl1 |
T |
A |
2: 181,216,448 (GRCm39) |
Y136F |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,148,534 (GRCm39) |
V870A |
probably benign |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,112 (GRCm39) |
D149G |
probably benign |
Het |
| Zfp648 |
C |
T |
1: 154,081,032 (GRCm39) |
T397M |
probably damaging |
Het |
| Zic2 |
C |
A |
14: 122,716,369 (GRCm39) |
T435K |
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 |
|
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 |
|
|
R7459:Agbl1
|
UTSW |
7 |
76,069,814 (GRCm39) |
missense |
not run |
|
|
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 |
PCR Primer
(F):5'- AAATCAAAGGCACTGCCTGGGG -3'
(R):5'- TTTGAGGATGACGGTACACCGGAC -3'
Sequencing Primer
(F):5'- ATCCAAAGTCTCTTCTGAGAGCG -3'
(R):5'- GTACACCGGACTTCCCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation