Incidental Mutation 'R5055:Agbl1'
| ID |
390774 |
| 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 |
042645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76063325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 263
(I263F)
|
| 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: I11F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: I11F
| 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: I11F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: I11F
| 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 |
probably damaging
Transcript: ENSMUST00000156166
AA Change: I263F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: I263F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2674 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (84/86) |
| 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 |
|---|
| Adam19 |
G |
A |
11: 46,013,996 (GRCm39) |
V329I |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,398 (GRCm39) |
A541E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,930,519 (GRCm39) |
|
probably null |
Het |
| Bccip |
A |
G |
7: 133,316,652 (GRCm39) |
T91A |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,163 (GRCm39) |
F355I |
probably damaging |
Het |
| Bpifa2 |
A |
T |
2: 153,855,630 (GRCm39) |
D185V |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,399,526 (GRCm39) |
V89D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,241,106 (GRCm39) |
M421K |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,256 (GRCm39) |
L800M |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,077,949 (GRCm39) |
D137G |
possibly damaging |
Het |
| Crtap |
A |
G |
9: 114,219,208 (GRCm39) |
Y154H |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,499,303 (GRCm39) |
Q213L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,164 (GRCm39) |
Y296C |
probably damaging |
Het |
| Daxx |
G |
T |
17: 34,131,134 (GRCm39) |
V354F |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,411,599 (GRCm39) |
I341T |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,036,380 (GRCm39) |
D272G |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,553,022 (GRCm39) |
G82W |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,739,174 (GRCm39) |
C158Y |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,614,630 (GRCm39) |
|
probably benign |
Het |
| Gars1 |
G |
A |
6: 55,045,077 (GRCm39) |
R454H |
probably damaging |
Het |
| Ghsr |
T |
C |
3: 27,426,421 (GRCm39) |
V159A |
probably benign |
Het |
| Glp1r |
A |
T |
17: 31,137,861 (GRCm39) |
Q97H |
probably benign |
Het |
| Gm27047 |
T |
C |
6: 130,606,909 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv3-3 |
A |
C |
6: 70,664,223 (GRCm39) |
I22L |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,636,824 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
C |
A |
1: 135,330,097 (GRCm39) |
E448* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,229,003 (GRCm39) |
I400N |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,567,062 (GRCm39) |
H40Q |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Kcnq2 |
G |
T |
2: 180,728,554 (GRCm39) |
|
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,118,439 (GRCm39) |
T53A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,729,649 (GRCm39) |
|
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,802 (GRCm39) |
R331C |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,878,332 (GRCm39) |
D289E |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,773 (GRCm39) |
M43K |
possibly damaging |
Het |
| Msr1 |
T |
G |
8: 40,076,997 (GRCm39) |
R138S |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,723 (GRCm39) |
A1711V |
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,023,083 (GRCm39) |
|
probably benign |
Het |
| Nampt |
A |
T |
12: 32,883,120 (GRCm39) |
N102Y |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,371,460 (GRCm39) |
I92V |
probably benign |
Het |
| Nes |
A |
G |
3: 87,884,521 (GRCm39) |
N883D |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,312,463 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
A |
13: 100,675,930 (GRCm39) |
T188S |
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,937 (GRCm39) |
M250K |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,585 (GRCm39) |
F147S |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,664,733 (GRCm39) |
Q1305L |
probably benign |
Het |
| Pde3a |
C |
T |
6: 141,433,682 (GRCm39) |
Q855* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,052,311 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,930,242 (GRCm39) |
M65V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,182,201 (GRCm39) |
S377P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,548,703 (GRCm39) |
T408S |
probably benign |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,152 (GRCm39) |
D789G |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,419,719 (GRCm39) |
M897V |
possibly damaging |
Het |
| Prss57 |
A |
G |
10: 79,620,178 (GRCm39) |
|
probably null |
Het |
| Psd |
G |
T |
19: 46,310,907 (GRCm39) |
L381I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,370,540 (GRCm39) |
D2050E |
probably benign |
Het |
| Rfc1 |
G |
T |
5: 65,423,505 (GRCm39) |
N1034K |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,661,504 (GRCm39) |
G1829S |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,767,003 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Slc28a1 |
A |
G |
7: 80,818,796 (GRCm39) |
N583S |
possibly damaging |
Het |
| Slc35e3 |
C |
T |
10: 117,580,884 (GRCm39) |
G140D |
probably damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,347 (GRCm39) |
|
probably null |
Het |
| Sptlc1 |
A |
G |
13: 53,496,218 (GRCm39) |
S376P |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,441,729 (GRCm39) |
C1913Y |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,845 (GRCm39) |
I337F |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,235 (GRCm39) |
I246F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,183 (GRCm39) |
V983M |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,626,521 (GRCm39) |
M1112K |
probably benign |
Het |
| Tsbp1 |
G |
A |
17: 34,667,770 (GRCm39) |
C154Y |
possibly damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,594 (GRCm39) |
K670I |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,392,771 (GRCm39) |
D257G |
probably damaging |
Het |
| Wdr41 |
T |
A |
13: 95,151,725 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,860 (GRCm39) |
Q668R |
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 |
|
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 |
|
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'- ATGCACATTCTCACTAGGCAAC -3'
(R):5'- CAGTTGACCTGAACAATGACTG -3'
Sequencing Primer
(F):5'- TCACTAGGCAACATTCTCCATTAG -3'
(R):5'- ACAATGACTGTTTCTGCTTTAATCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation