Incidental Mutation 'R4632:Agbl1'
| ID |
349275 |
| 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 |
041897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76063433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 47
(T47A)
|
| 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 benign
Transcript: ENSMUST00000026854
AA Change: T47A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: T47A
| 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: T47A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: T47A
| 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 benign
Transcript: ENSMUST00000156166
AA Change: T299A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,447 (GRCm39) |
V44A |
probably benign |
Het |
| Abr |
C |
T |
11: 76,399,845 (GRCm39) |
G39R |
probably benign |
Het |
| Adora2b |
TGGACCACTCCAGGACCACTC |
TGGACCACTC |
11: 62,156,208 (GRCm39) |
|
probably null |
Het |
| Akap13 |
G |
T |
7: 75,316,301 (GRCm39) |
A1389S |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,686,343 (GRCm39) |
T1286S |
probably benign |
Het |
| Ankrd13c |
A |
G |
3: 157,667,939 (GRCm39) |
H166R |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arl16 |
A |
G |
11: 120,356,610 (GRCm39) |
S130P |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,186 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,537 (GRCm39) |
R138W |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,113 (GRCm39) |
T309M |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,350 (GRCm39) |
K265I |
probably benign |
Het |
| Casz1 |
A |
G |
4: 149,036,312 (GRCm39) |
T1525A |
possibly damaging |
Het |
| Cd200l1 |
T |
G |
16: 45,238,271 (GRCm39) |
H181P |
probably benign |
Het |
| Chpf2 |
A |
G |
5: 24,796,829 (GRCm39) |
T592A |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,174,150 (GRCm39) |
Y410C |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,874,605 (GRCm39) |
C560R |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,403,562 (GRCm39) |
E2993D |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,467,110 (GRCm39) |
F3585L |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,325,272 (GRCm39) |
D545G |
unknown |
Het |
| Dusp7 |
T |
A |
9: 106,247,965 (GRCm39) |
S198T |
possibly damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,693 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Galntl6 |
T |
A |
8: 58,880,857 (GRCm39) |
I99F |
probably damaging |
Het |
| Gnat3 |
G |
A |
5: 18,220,364 (GRCm39) |
|
probably null |
Het |
| Hykk |
T |
C |
9: 54,853,800 (GRCm39) |
I374T |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,450,886 (GRCm39) |
I722V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Krt13 |
A |
G |
11: 100,012,050 (GRCm39) |
L91P |
possibly damaging |
Het |
| Krtap4-13 |
A |
C |
11: 99,700,354 (GRCm39) |
S102A |
unknown |
Het |
| Lrp2 |
A |
G |
2: 69,319,473 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,057,288 (GRCm39) |
V171I |
probably damaging |
Het |
| Map3k4 |
C |
G |
17: 12,451,391 (GRCm39) |
E1501Q |
probably damaging |
Het |
| Mapk11 |
C |
T |
15: 89,030,579 (GRCm39) |
V105M |
probably damaging |
Het |
| Mlph |
G |
A |
1: 90,867,108 (GRCm39) |
A377T |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,776,947 (GRCm39) |
C1115Y |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,513,761 (GRCm39) |
Y78* |
probably null |
Het |
| Nos2 |
T |
C |
11: 78,848,417 (GRCm39) |
F1108S |
possibly damaging |
Het |
| Oas2 |
T |
C |
5: 120,871,546 (GRCm39) |
K699R |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,810,100 (GRCm39) |
D87G |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,698 (GRCm39) |
F413L |
probably benign |
Het |
| Or2c1 |
C |
T |
16: 3,656,951 (GRCm39) |
T38M |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,796 (GRCm39) |
T224A |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,805,709 (GRCm39) |
S367P |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,905 (GRCm39) |
|
probably null |
Het |
| Ppm1e |
G |
A |
11: 87,122,356 (GRCm39) |
P534S |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,717,726 (GRCm39) |
N1924S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
T |
A |
15: 53,583,067 (GRCm39) |
H89L |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,901,571 (GRCm39) |
V211E |
probably benign |
Het |
| Setx |
C |
T |
2: 29,038,627 (GRCm39) |
T1704I |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,486,651 (GRCm39) |
S439P |
possibly damaging |
Het |
| Sort1 |
G |
T |
3: 108,253,994 (GRCm39) |
Q553H |
probably damaging |
Het |
| Svs5 |
G |
T |
2: 164,079,667 (GRCm39) |
T80N |
probably benign |
Het |
| Tanc1 |
C |
A |
2: 59,626,179 (GRCm39) |
T512K |
probably damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,432 (GRCm39) |
V188E |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,598,909 (GRCm39) |
R6W |
probably benign |
Het |
| Tex101 |
G |
T |
7: 24,367,793 (GRCm39) |
C186* |
probably null |
Het |
| Timp2 |
C |
T |
11: 118,194,598 (GRCm39) |
S197N |
probably benign |
Het |
| Tmem37 |
A |
T |
1: 119,995,979 (GRCm39) |
C33S |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,235 (GRCm39) |
D245G |
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,128,071 (GRCm39) |
N694K |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,614,123 (GRCm39) |
V1277A |
probably damaging |
Het |
| Vmn2r100 |
C |
T |
17: 19,752,216 (GRCm39) |
S753F |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Zap70 |
G |
T |
1: 36,817,539 (GRCm39) |
A261S |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,302,741 (GRCm39) |
W87R |
probably damaging |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,981 (GRCm39) |
F501S |
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 |
|
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 |
|
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'- CTGCACACGAGGTCTGTTATATTC -3'
(R):5'- GGCACAGCTAATAATTAGGGACC -3'
Sequencing Primer
(F):5'- ACACGAGGTCTGTTATATTCTCTCTG -3'
(R):5'- ACCACATGATAGAGCTTGATGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation