Incidental Mutation 'R9113:Agbl1'
| ID |
692357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl1
|
| Ensembl Gene |
ENSMUSG00000025754 |
| Gene Name |
ATP/GTP binding protein-like 1 |
| Synonyms |
Nna1-l1, EG244071 |
| MMRRC Submission |
068920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
76229887-77124698 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76589477 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 827
(A827E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026854]
[ENSMUST00000107442]
[ENSMUST00000156166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026854
AA Change: A575E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: A575E
| 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 damaging
Transcript: ENSMUST00000107442
AA Change: A575E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: A575E
| 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: A827E
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: A827E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415D10Rik |
G |
A |
10: 82,295,518 (GRCm38) |
Q553* |
probably null |
Het |
| Abcc9 |
T |
A |
6: 142,645,930 (GRCm38) |
I791F |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,911,202 (GRCm38) |
M389T |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 130,017,084 (GRCm38) |
V1065M |
probably damaging |
Het |
| Alox5ap |
T |
C |
5: 149,279,205 (GRCm38) |
F67S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,887,333 (GRCm38) |
N2566S |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 77,259,072 (GRCm38) |
D722G |
probably damaging |
Het |
| Atp5j2 |
A |
G |
5: 145,191,505 (GRCm38) |
L4P |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,213,925 (GRCm38) |
V130A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,855,845 (GRCm38) |
E278G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,734,887 (GRCm38) |
D1222G |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,927,730 (GRCm38) |
V161E |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,595,799 (GRCm38) |
S1335P |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,094,543 (GRCm38) |
Y267* |
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,338,429 (GRCm38) |
Y38H |
unknown |
Het |
| Coro2a |
C |
T |
4: 46,563,047 (GRCm38) |
G36S |
|
Het |
| Ctsc |
A |
T |
7: 88,309,896 (GRCm38) |
K461N |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,835,632 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,989,887 (GRCm38) |
I2628T |
probably damaging |
Het |
| Dnajb5 |
T |
C |
4: 42,953,233 (GRCm38) |
I20T |
probably damaging |
Het |
| Dus2 |
C |
T |
8: 106,048,701 (GRCm38) |
Q287* |
probably null |
Het |
| Fbxl17 |
A |
G |
17: 63,225,090 (GRCm38) |
V586A |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,160,820 (GRCm38) |
|
probably benign |
Het |
| Gm10639 |
A |
T |
9: 78,305,385 (GRCm38) |
I213F |
probably benign |
Het |
| Gm4924 |
G |
A |
10: 82,378,279 (GRCm38) |
C637Y |
unknown |
Het |
| Gorasp1 |
A |
G |
9: 119,928,376 (GRCm38) |
F310S |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,955,590 (GRCm38) |
T2726I |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,826,024 (GRCm38) |
P940Q |
probably benign |
Het |
| Klk1b22 |
G |
A |
7: 44,116,268 (GRCm38) |
V183M |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,418,552 (GRCm38) |
M294T |
probably damaging |
Het |
| Krtap6-2 |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
16: 89,419,725 (GRCm38) |
|
probably benign |
Het |
| Lep |
T |
C |
6: 29,071,094 (GRCm38) |
L139P |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,427,644 (GRCm38) |
D64G |
probably damaging |
Het |
| Lyzl1 |
C |
T |
18: 4,168,604 (GRCm38) |
A28V |
probably null |
Het |
| Mcam |
T |
C |
9: 44,140,396 (GRCm38) |
V483A |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,170,267 (GRCm38) |
|
probably benign |
Het |
| Mzf1 |
T |
A |
7: 13,044,352 (GRCm38) |
H454L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 8,978,950 (GRCm38) |
T742A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,031,149 (GRCm38) |
Y61C |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,603,855 (GRCm38) |
|
probably benign |
Het |
| Setbp1 |
G |
T |
18: 78,857,733 (GRCm38) |
H906Q |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 105,944,352 (GRCm38) |
V1032A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,400,279 (GRCm38) |
M285T |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,677,475 (GRCm38) |
Y287H |
probably damaging |
Het |
| Tas2r135 |
T |
G |
6: 42,406,381 (GRCm38) |
F285V |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,308,563 (GRCm38) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,788,194 (GRCm38) |
T16249A |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,737,423 (GRCm38) |
T299A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,591,026 (GRCm38) |
I457M |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 18,839,713 (GRCm38) |
E437G |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,976,912 (GRCm38) |
E1333V |
probably damaging |
Het |
|
| Other mutations in Agbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01567:Agbl1
|
APN |
7 |
76,421,880 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01650:Agbl1
|
APN |
7 |
76,420,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02244:Agbl1
|
APN |
7 |
76,766,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03088:Agbl1
|
APN |
7 |
76,720,142 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03143:Agbl1
|
APN |
7 |
76,420,045 (GRCm38) |
nonsense |
probably null |
|
|
IGL03306:Agbl1
|
APN |
7 |
76,589,504 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0001:Agbl1
|
UTSW |
7 |
76,419,863 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0045:Agbl1
|
UTSW |
7 |
76,698,840 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0045:Agbl1
|
UTSW |
7 |
76,698,840 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0541:Agbl1
|
UTSW |
7 |
76,409,245 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1889:Agbl1
|
UTSW |
7 |
76,589,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2089:Agbl1
|
UTSW |
7 |
76,589,500 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2091:Agbl1
|
UTSW |
7 |
76,589,500 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2091:Agbl1
|
UTSW |
7 |
76,589,500 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2127:Agbl1
|
UTSW |
7 |
76,419,880 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2148:Agbl1
|
UTSW |
7 |
76,414,717 (GRCm38) |
splice site |
probably null |
|
|
R2229:Agbl1
|
UTSW |
7 |
76,433,378 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2243:Agbl1
|
UTSW |
7 |
76,418,722 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2255:Agbl1
|
UTSW |
7 |
76,422,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2411:Agbl1
|
UTSW |
7 |
76,720,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2426:Agbl1
|
UTSW |
7 |
76,421,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2508:Agbl1
|
UTSW |
7 |
76,589,550 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2910:Agbl1
|
UTSW |
7 |
76,419,838 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2919:Agbl1
|
UTSW |
7 |
76,414,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3056:Agbl1
|
UTSW |
7 |
76,766,484 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R3153:Agbl1
|
UTSW |
7 |
76,720,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3770:Agbl1
|
UTSW |
7 |
76,425,929 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3825:Agbl1
|
UTSW |
7 |
76,419,967 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4632:Agbl1
|
UTSW |
7 |
76,413,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4857:Agbl1
|
UTSW |
7 |
76,419,835 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4943:Agbl1
|
UTSW |
7 |
76,420,016 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5055:Agbl1
|
UTSW |
7 |
76,413,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5071:Agbl1
|
UTSW |
7 |
76,421,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5072:Agbl1
|
UTSW |
7 |
76,421,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5074:Agbl1
|
UTSW |
7 |
76,421,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5095:Agbl1
|
UTSW |
7 |
76,720,133 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5133:Agbl1
|
UTSW |
7 |
76,422,156 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5576:Agbl1
|
UTSW |
7 |
76,335,237 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5665:Agbl1
|
UTSW |
7 |
76,589,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5849:Agbl1
|
UTSW |
7 |
76,325,098 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5924:Agbl1
|
UTSW |
7 |
76,409,234 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6044:Agbl1
|
UTSW |
7 |
76,318,120 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R6117:Agbl1
|
UTSW |
7 |
76,698,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6144:Agbl1
|
UTSW |
7 |
76,420,084 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6368:Agbl1
|
UTSW |
7 |
76,419,830 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6806:Agbl1
|
UTSW |
7 |
76,425,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7455:Agbl1
|
UTSW |
7 |
76,424,755 (GRCm38) |
missense |
unknown |
|
|
R7459:Agbl1
|
UTSW |
7 |
76,420,066 (GRCm38) |
missense |
not run |
|
|
R7485:Agbl1
|
UTSW |
7 |
76,589,493 (GRCm38) |
missense |
unknown |
|
|
R7516:Agbl1
|
UTSW |
7 |
76,425,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7539:Agbl1
|
UTSW |
7 |
76,425,929 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7561:Agbl1
|
UTSW |
7 |
76,698,761 (GRCm38) |
missense |
unknown |
|
|
R7630:Agbl1
|
UTSW |
7 |
76,886,156 (GRCm38) |
missense |
unknown |
|
|
R7655:Agbl1
|
UTSW |
7 |
76,409,332 (GRCm38) |
missense |
|
|
|
R7656:Agbl1
|
UTSW |
7 |
76,409,332 (GRCm38) |
missense |
|
|
|
R7658:Agbl1
|
UTSW |
7 |
76,766,369 (GRCm38) |
missense |
unknown |
|
|
R7681:Agbl1
|
UTSW |
7 |
76,444,901 (GRCm38) |
missense |
unknown |
|
|
R7694:Agbl1
|
UTSW |
7 |
76,698,765 (GRCm38) |
missense |
unknown |
|
|
R7773:Agbl1
|
UTSW |
7 |
76,698,837 (GRCm38) |
missense |
unknown |
|
|
R7981:Agbl1
|
UTSW |
7 |
76,444,840 (GRCm38) |
missense |
unknown |
|
|
R8208:Agbl1
|
UTSW |
7 |
76,720,168 (GRCm38) |
missense |
unknown |
|
|
R8317:Agbl1
|
UTSW |
7 |
76,422,181 (GRCm38) |
missense |
unknown |
|
|
R8406:Agbl1
|
UTSW |
7 |
76,418,667 (GRCm38) |
missense |
|
|
|
R8432:Agbl1
|
UTSW |
7 |
77,124,686 (GRCm38) |
missense |
unknown |
|
|
R8704:Agbl1
|
UTSW |
7 |
76,589,554 (GRCm38) |
splice site |
probably benign |
|
|
R8830:Agbl1
|
UTSW |
7 |
76,335,311 (GRCm38) |
missense |
|
|
|
R8985:Agbl1
|
UTSW |
7 |
76,320,156 (GRCm38) |
missense |
|
|
|
R9170:Agbl1
|
UTSW |
7 |
76,335,321 (GRCm38) |
missense |
|
|
|
R9229:Agbl1
|
UTSW |
7 |
77,124,522 (GRCm38) |
missense |
unknown |
|
|
R9255:Agbl1
|
UTSW |
7 |
76,766,402 (GRCm38) |
missense |
unknown |
|
|
R9391:Agbl1
|
UTSW |
7 |
76,421,854 (GRCm38) |
missense |
unknown |
|
|
R9646:Agbl1
|
UTSW |
7 |
76,425,900 (GRCm38) |
missense |
unknown |
|
|
Z1088:Agbl1
|
UTSW |
7 |
76,419,904 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Agbl1
|
UTSW |
7 |
76,418,685 (GRCm38) |
missense |
|
|
|
Z1177:Agbl1
|
UTSW |
7 |
76,720,206 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCCCCAGAGACTGTTGATG -3'
(R):5'- TTGGTTCAGATAGATGGAGCC -3'
Sequencing Primer
(F):5'- CCCCAGAGACTGTTGATGGAAATG -3'
(R):5'- GAGATCCCTATAGAGTATCAAGGCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation