Incidental Mutation 'R2426:Agbl1'
ID |
250216 |
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 |
040388-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2426 (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 76071650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 324
(V324A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103066
(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: V324A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026854 Gene: ENSMUSG00000025754 AA Change: V324A
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: V324A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103066 Gene: ENSMUSG00000025754 AA Change: V324A
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: V576A
|
SMART Domains |
Protein: ENSMUSP00000119721 Gene: ENSMUSG00000025754 AA Change: V576A
Domain | Start | End | E-Value | Type |
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166190
AA Change: V562A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128342 Gene: ENSMUSG00000025754 AA Change: V562A
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: 96.9%
- 20x: 93.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
G |
T |
7: 119,882,446 (GRCm39) |
V1203L |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,075,025 (GRCm39) |
V131I |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,980,215 (GRCm39) |
I500F |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,266 (GRCm39) |
D851G |
probably damaging |
Het |
Amot |
T |
C |
X: 144,259,287 (GRCm39) |
K460E |
probably damaging |
Het |
Arhgef3 |
G |
T |
14: 27,106,138 (GRCm39) |
E161* |
probably null |
Het |
Atg9b |
A |
T |
5: 24,591,992 (GRCm39) |
I669N |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,877,639 (GRCm39) |
Y268H |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,602,201 (GRCm39) |
S302P |
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,428,213 (GRCm39) |
M303K |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,770,813 (GRCm39) |
Y231F |
probably benign |
Het |
Defa39 |
T |
G |
8: 22,192,653 (GRCm39) |
K114N |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,791,740 (GRCm39) |
L1411Q |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,469,861 (GRCm39) |
I629N |
probably damaging |
Het |
Dst |
A |
T |
1: 34,231,893 (GRCm39) |
H2837L |
probably benign |
Het |
Fam114a2 |
G |
A |
11: 57,383,906 (GRCm39) |
P343L |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,086,511 (GRCm39) |
|
probably null |
Het |
Fbxl13 |
A |
C |
5: 21,727,135 (GRCm39) |
D620E |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,534,673 (GRCm39) |
S164T |
probably damaging |
Het |
Gdi2 |
T |
G |
13: 3,612,034 (GRCm39) |
S330A |
probably benign |
Het |
Gm5878 |
A |
T |
6: 85,095,613 (GRCm39) |
M70K |
probably benign |
Het |
H2-Q6 |
G |
T |
17: 35,643,913 (GRCm39) |
A21S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 106,995,519 (GRCm39) |
|
probably null |
Het |
Hnmt |
C |
T |
2: 23,909,167 (GRCm39) |
C82Y |
probably benign |
Het |
Il1rl1 |
C |
A |
1: 40,485,779 (GRCm39) |
A310D |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,757,569 (GRCm39) |
|
probably null |
Het |
Kcne4 |
C |
A |
1: 78,795,688 (GRCm39) |
A112E |
possibly damaging |
Het |
Krt32 |
T |
C |
11: 99,977,192 (GRCm39) |
K236R |
possibly damaging |
Het |
Maml2 |
T |
C |
9: 13,617,794 (GRCm39) |
L380P |
probably damaging |
Het |
Meis1 |
A |
T |
11: 18,938,356 (GRCm39) |
D218E |
possibly damaging |
Het |
Mon1b |
G |
A |
8: 114,365,752 (GRCm39) |
G360D |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,216 (GRCm39) |
S383P |
probably damaging |
Het |
Neb |
A |
G |
2: 52,059,065 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
A |
T |
11: 69,717,912 (GRCm39) |
I431N |
probably damaging |
Het |
Nr2e1 |
A |
G |
10: 42,439,481 (GRCm39) |
L134P |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,814,663 (GRCm39) |
|
probably null |
Het |
Or2t29 |
A |
T |
11: 58,433,920 (GRCm39) |
Y127* |
probably null |
Het |
Or6c207 |
T |
C |
10: 129,105,135 (GRCm39) |
Q19R |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,693 (GRCm39) |
S190P |
probably damaging |
Het |
Pate2 |
A |
T |
9: 35,581,776 (GRCm39) |
|
probably null |
Het |
Pgr |
G |
A |
9: 8,900,718 (GRCm39) |
V84M |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,002 (GRCm39) |
V296D |
probably damaging |
Het |
Plcb2 |
G |
A |
2: 118,546,130 (GRCm39) |
T555M |
probably damaging |
Het |
Pld5 |
T |
G |
1: 175,791,542 (GRCm39) |
D426A |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,838,320 (GRCm39) |
C1679* |
probably null |
Het |
Psme2b |
A |
T |
11: 48,836,890 (GRCm39) |
V19D |
probably benign |
Het |
Ptpn9 |
A |
T |
9: 56,934,712 (GRCm39) |
N159Y |
possibly damaging |
Het |
Sanbr |
T |
A |
11: 23,526,801 (GRCm39) |
R190W |
probably damaging |
Het |
Sdc3 |
A |
T |
4: 130,546,114 (GRCm39) |
T64S |
unknown |
Het |
Serping1 |
T |
G |
2: 84,600,563 (GRCm39) |
S260R |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,050,150 (GRCm39) |
F436S |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,769,575 (GRCm39) |
I138N |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
Spink1 |
G |
T |
18: 43,868,287 (GRCm39) |
S23* |
probably null |
Het |
Stag1 |
T |
C |
9: 100,727,169 (GRCm39) |
|
probably null |
Het |
Tnfaip8l1 |
G |
A |
17: 56,479,030 (GRCm39) |
V107I |
probably benign |
Het |
Tnik |
A |
G |
3: 28,700,830 (GRCm39) |
S907G |
probably damaging |
Het |
Ttf1 |
T |
A |
2: 28,957,197 (GRCm39) |
M489K |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp54 |
G |
A |
14: 20,615,008 (GRCm39) |
A811V |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,815 (GRCm39) |
N2352S |
probably benign |
Het |
Zan |
T |
C |
5: 137,387,254 (GRCm39) |
Y4933C |
unknown |
Het |
Zbtb8a |
A |
G |
4: 129,254,012 (GRCm39) |
S161P |
probably benign |
Het |
Zkscan5 |
A |
T |
5: 145,157,750 (GRCm39) |
I751L |
probably benign |
Het |
Zscan4d |
A |
G |
7: 10,899,022 (GRCm39) |
F85S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,806,091 (GRCm39) |
M2647V |
probably benign |
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 |
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 |
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Predicted Primers |
PCR Primer
(F):5'- AACCTAAGATGGAGGCACTGTG -3'
(R):5'- TGGAAATGCTGCCTTGCAAAG -3'
Sequencing Primer
(F):5'- ACTGTGAAGTGCCTATCTTCTG -3'
(R):5'- CTTGCAAAGGCCTACAAGAAAAG -3'
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Posted On |
2014-11-12 |