Incidental Mutation 'R2434:Agbl5'
| ID |
250520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl5
|
| Ensembl Gene |
ENSMUSG00000029165 |
| Gene Name |
ATP/GTP binding protein-like 5 |
| Synonyms |
Ccp5, 9430057O19Rik |
| MMRRC Submission |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31046038-31064309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31051357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 493
(Q493R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069705]
[ENSMUST00000114700]
[ENSMUST00000200695]
[ENSMUST00000200850]
[ENSMUST00000201168]
[ENSMUST00000201225]
[ENSMUST00000201817]
[ENSMUST00000201917]
[ENSMUST00000202060]
[ENSMUST00000202109]
|
| AlphaFold |
Q09M02 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069705
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063228
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
191 |
361 |
8.4e-19 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
4e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114700
AA Change: Q522R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110348
Gene: ENSMUSG00000029165
AA Change: Q522R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
220 |
390 |
1.1e-18 |
PFAM |
|
low complexity region
|
413 |
428 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
453 |
518 |
5e-14 |
BLAST |
|
low complexity region
|
567 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
835 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114704
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110352
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
370 |
7.3e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
847 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200695
|
| SMART Domains |
Protein: ENSMUSP00000144109
Gene: ENSMUSG00000029165
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
SCOP:d2ctc__
|
148 |
177 |
5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200850
|
| SMART Domains |
Protein: ENSMUSP00000144274
Gene: ENSMUSG00000029165
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
SCOP:d1jqga1
|
178 |
229 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201168
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143808
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
370 |
7.3e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
847 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201225
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143934
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
373 |
5.9e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201817
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144304
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
372 |
6.4e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
758 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201917
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144188
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
372 |
6.5e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
806 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201918
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202060
AA Change: Q493R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144018
Gene: ENSMUSG00000029165
AA Change: Q493R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
196 |
373 |
5.9e-13 |
PFAM |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
Blast:Zn_pept
|
424 |
489 |
5e-14 |
BLAST |
|
low complexity region
|
538 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201901
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202109
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to HSV or VACV infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
probably damaging |
Het |
|
| Other mutations in Agbl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Agbl5
|
APN |
5 |
31,050,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
sausage
|
UTSW |
5 |
31,051,702 (GRCm39) |
nonsense |
probably null |
|
|
R0355:Agbl5
|
UTSW |
5 |
31,049,335 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0575:Agbl5
|
UTSW |
5 |
31,051,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Agbl5
|
UTSW |
5 |
31,050,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Agbl5
|
UTSW |
5 |
31,063,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Agbl5
|
UTSW |
5 |
31,060,408 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3418:Agbl5
|
UTSW |
5 |
31,062,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Agbl5
|
UTSW |
5 |
31,053,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Agbl5
|
UTSW |
5 |
31,048,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Agbl5
|
UTSW |
5 |
31,048,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5018:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5052:Agbl5
|
UTSW |
5 |
31,048,558 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5071:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Agbl5
|
UTSW |
5 |
31,051,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Agbl5
|
UTSW |
5 |
31,049,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Agbl5
|
UTSW |
5 |
31,060,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Agbl5
|
UTSW |
5 |
31,047,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Agbl5
|
UTSW |
5 |
31,051,247 (GRCm39) |
splice site |
probably null |
|
|
R5524:Agbl5
|
UTSW |
5 |
31,051,247 (GRCm39) |
splice site |
probably null |
|
|
R5526:Agbl5
|
UTSW |
5 |
31,051,247 (GRCm39) |
splice site |
probably null |
|
|
R5657:Agbl5
|
UTSW |
5 |
31,051,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Agbl5
|
UTSW |
5 |
31,051,702 (GRCm39) |
nonsense |
probably null |
|
|
R6301:Agbl5
|
UTSW |
5 |
31,049,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Agbl5
|
UTSW |
5 |
31,052,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Agbl5
|
UTSW |
5 |
31,062,061 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7388:Agbl5
|
UTSW |
5 |
31,060,583 (GRCm39) |
nonsense |
probably null |
|
|
R7392:Agbl5
|
UTSW |
5 |
31,048,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7410:Agbl5
|
UTSW |
5 |
31,048,032 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7452:Agbl5
|
UTSW |
5 |
31,050,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Agbl5
|
UTSW |
5 |
31,051,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8901:Agbl5
|
UTSW |
5 |
31,048,435 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
RF007:Agbl5
|
UTSW |
5 |
31,060,589 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGCGGGTGACATATGCG -3'
(R):5'- AACCTTGCTAACTGAGGCTC -3'
Sequencing Primer
(F):5'- TGACATATGCGGCAGAGTAACAC -3'
(R):5'- TGCTAACTGAGGCTCTCTTTTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation