Incidental Mutation 'R7455:Agbl1'
| ID |
578071 |
| 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 |
045529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75879635-76774446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76074503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 646
(H646Y)
|
| 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 benign
Transcript: ENSMUST00000026854
AA Change: H394Y
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: H394Y
| 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 |
possibly damaging
Transcript: ENSMUST00000107442
AA Change: H394Y
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: H394Y
| 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: H646Y
|
| SMART Domains |
Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: H646Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
254 |
270 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
C |
T |
3: 152,187,209 (GRCm39) |
R426H |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,022,792 (GRCm39) |
V1207A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,531,732 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
G |
10: 122,285,169 (GRCm39) |
C154G |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,339,262 (GRCm39) |
Q283R |
probably benign |
Het |
| Cad |
C |
T |
5: 31,231,506 (GRCm39) |
P1743S |
probably damaging |
Het |
| Ccdc137 |
T |
G |
11: 120,350,985 (GRCm39) |
M129R |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,142,003 (GRCm39) |
I3028T |
possibly damaging |
Het |
| Cep68 |
T |
A |
11: 20,180,571 (GRCm39) |
I687F |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,464,154 (GRCm39) |
I262N |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,147 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,675,873 (GRCm39) |
H247P |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,992,292 (GRCm39) |
T134A |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,333,721 (GRCm39) |
D1092E |
probably damaging |
Het |
| Cptp |
G |
A |
4: 155,950,957 (GRCm39) |
R170C |
probably damaging |
Het |
| Cysrt1 |
A |
G |
2: 25,129,422 (GRCm39) |
L30S |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,394 (GRCm39) |
V754A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,161 (GRCm39) |
V411A |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,428,064 (GRCm39) |
T453S |
probably benign |
Het |
| Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,479,701 (GRCm39) |
|
probably null |
Het |
| Gm13941 |
A |
G |
2: 110,925,085 (GRCm39) |
F173L |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,554,915 (GRCm39) |
A1654T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,332 (GRCm39) |
I840N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,657 (GRCm39) |
I746N |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,361,692 (GRCm39) |
H448N |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,421,507 (GRCm39) |
Y581* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,947 (GRCm39) |
E186V |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,775 (GRCm39) |
V304E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,935,705 (GRCm39) |
D1607G |
probably damaging |
Het |
| Mup18 |
A |
G |
4: 61,592,171 (GRCm39) |
V31A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,317,105 (GRCm39) |
C11* |
probably null |
Het |
| Nedd1 |
A |
T |
10: 92,536,787 (GRCm39) |
L172M |
probably benign |
Het |
| Nim1k |
G |
A |
13: 120,173,995 (GRCm39) |
R300W |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,204 (GRCm39) |
F289L |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,434 (GRCm39) |
P279Q |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,900,150 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or8c8 |
T |
C |
9: 38,165,550 (GRCm39) |
V276A |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,931,432 (GRCm39) |
Y351H |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,876,239 (GRCm39) |
V118G |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,643 (GRCm39) |
Y1014H |
unknown |
Het |
| Pmp22 |
A |
G |
11: 63,025,339 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
T |
A |
6: 146,917,848 (GRCm39) |
F501L |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,657 (GRCm39) |
A234T |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,070,669 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,559,211 (GRCm39) |
K3058E |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,452,602 (GRCm39) |
Q539L |
possibly damaging |
Het |
| Scgn |
G |
A |
13: 24,150,848 (GRCm39) |
R168C |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,463,832 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,766 (GRCm39) |
V709I |
probably benign |
Het |
| Slc1a2 |
A |
T |
2: 102,566,299 (GRCm39) |
M10L |
probably benign |
Het |
| Sox6 |
T |
G |
7: 115,088,904 (GRCm39) |
I653L |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,196,559 (GRCm39) |
I166V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,025 (GRCm39) |
Y2152H |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,729 (GRCm39) |
N340S |
probably benign |
Het |
| Tmem198 |
G |
A |
1: 75,456,430 (GRCm39) |
R28Q |
unknown |
Het |
| Tut7 |
T |
C |
13: 59,969,871 (GRCm39) |
Y8C |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,624,014 (GRCm39) |
D102G |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,425,267 (GRCm39) |
M529V |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,581,984 (GRCm39) |
H310R |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,575 (GRCm39) |
S21P |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,759,212 (GRCm39) |
H486Y |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,907,127 (GRCm39) |
V431I |
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 |
|
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 |
|
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'- CATTCATCTGGGTTCAGGAATAGG -3'
(R):5'- TGCCTTGCCAGACTGACAAG -3'
Sequencing Primer
(F):5'- TTCAGGAATAGGAGTGTGTACATG -3'
(R):5'- TTGCCAGACTGACAAGCAAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation