Incidental Mutation 'R2255:Agbl1'
| ID |
241949 |
| 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 |
040255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76071932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 581
(F581S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026854]
[ENSMUST00000107442]
[ENSMUST00000156166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026854
AA Change: F343S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: F343S
| 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: F343S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: F343S
| 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 |
unknown
Transcript: ENSMUST00000156166
AA Change: F595S
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: F595S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166190
AA Change: F581S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
AA Change: F581S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
737 |
871 |
7.4e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
A |
17: 46,616,561 (GRCm39) |
T1210I |
probably benign |
Het |
| Ambra1 |
A |
T |
2: 91,747,806 (GRCm39) |
N1061Y |
probably damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,891 (GRCm39) |
R272H |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,361 (GRCm39) |
L132S |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,125,207 (GRCm39) |
V1058I |
probably damaging |
Het |
| B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,815 (GRCm39) |
I310N |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,060,143 (GRCm39) |
L535* |
probably null |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Catip |
T |
C |
1: 74,408,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,921,996 (GRCm39) |
S1023R |
probably damaging |
Het |
| Ces2g |
G |
A |
8: 105,694,046 (GRCm39) |
E461K |
probably damaging |
Het |
| Chad |
C |
A |
11: 94,456,523 (GRCm39) |
H200Q |
possibly damaging |
Het |
| Crbn |
C |
T |
6: 106,772,159 (GRCm39) |
|
probably null |
Het |
| Crip3 |
G |
C |
17: 46,740,298 (GRCm39) |
E33Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,894 (GRCm39) |
R105S |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,979,706 (GRCm39) |
H114Y |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,968,347 (GRCm39) |
N242D |
probably benign |
Het |
| Dtx3l |
T |
C |
16: 35,756,949 (GRCm39) |
N78S |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 6,955,905 (GRCm39) |
|
probably null |
Het |
| Esrp1 |
A |
G |
4: 11,365,211 (GRCm39) |
V260A |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,349 (GRCm39) |
V544A |
probably benign |
Het |
| Ezhip |
T |
G |
X: 5,994,754 (GRCm39) |
E87A |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,193,233 (GRCm39) |
H255N |
possibly damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,164,655 (GRCm39) |
Y290* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,559,935 (GRCm39) |
V1524A |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,382,758 (GRCm39) |
I817T |
probably damaging |
Het |
| Gapdhs |
G |
C |
7: 30,429,333 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
G |
3: 36,074,099 (GRCm39) |
V350A |
probably benign |
Het |
| Gopc |
A |
T |
10: 52,225,181 (GRCm39) |
I356K |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,628 (GRCm39) |
V49A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,554,857 (GRCm39) |
N1634K |
probably damaging |
Het |
| Gria1 |
G |
A |
11: 57,076,775 (GRCm39) |
R57H |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,121,241 (GRCm39) |
E344G |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,810 (GRCm39) |
F167L |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,209 (GRCm39) |
D84E |
probably damaging |
Het |
| Ier3 |
A |
G |
17: 36,133,153 (GRCm39) |
Y145C |
probably damaging |
Het |
| Ifi47 |
A |
T |
11: 48,987,474 (GRCm39) |
I414L |
probably benign |
Het |
| Ifnl2 |
C |
T |
7: 28,209,638 (GRCm39) |
A50T |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,546,185 (GRCm39) |
Y70C |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,359,454 (GRCm39) |
F94L |
probably damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,523 (GRCm39) |
L26S |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nae1 |
T |
A |
8: 105,256,700 (GRCm39) |
D69V |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,463,643 (GRCm39) |
V625E |
possibly damaging |
Het |
| Nek1 |
T |
C |
8: 61,542,807 (GRCm39) |
L702P |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,689 (GRCm39) |
*272W |
probably null |
Het |
| Ofcc1 |
A |
C |
13: 40,248,181 (GRCm39) |
L651R |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,915,842 (GRCm39) |
|
probably null |
Het |
| Pcdhb19 |
C |
T |
18: 37,630,997 (GRCm39) |
A264V |
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,493 (GRCm39) |
W780C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,635,863 (GRCm39) |
H489L |
probably benign |
Het |
| Pros1 |
T |
A |
16: 62,723,935 (GRCm39) |
C228S |
possibly damaging |
Het |
| Rbm10 |
G |
A |
X: 20,501,978 (GRCm39) |
R9H |
unknown |
Het |
| Rwdd1 |
T |
C |
10: 33,878,466 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,818,062 (GRCm39) |
V213F |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,004,991 (GRCm39) |
I412T |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,748,438 (GRCm39) |
I98L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,203 (GRCm39) |
E394G |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,939,269 (GRCm39) |
T26A |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,731 (GRCm39) |
I23V |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,818 (GRCm39) |
I56T |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tex46 |
T |
C |
4: 136,337,844 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc5cl |
T |
A |
17: 48,766,974 (GRCm39) |
I116N |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,657,417 (GRCm39) |
I1630F |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Whrn |
C |
T |
4: 63,336,385 (GRCm39) |
V295M |
possibly damaging |
Het |
| Wrn |
G |
A |
8: 33,819,230 (GRCm39) |
P241S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,917,748 (GRCm39) |
C675S |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,321 (GRCm39) |
Y408H |
possibly 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 |
|
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'- CCACTTCTGCTTCTAAAACCAG -3'
(R):5'- CATCAACCAATAAGTTCCCTCATTGTC -3'
Sequencing Primer
(F):5'- TCTGCTTCTAAAACCAGCATGG -3'
(R):5'- TCTTTTGACAGATGACTCGGAGAAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation