Incidental Mutation 'R7631:Agbl3'
| ID |
589633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agbl3
|
| Ensembl Gene |
ENSMUSG00000038836 |
| Gene Name |
ATP/GTP binding protein-like 3 |
| Synonyms |
Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik |
| MMRRC Submission |
045692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34834606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 930
(L930H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115016
AA Change: L930H
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: L930H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
314 |
563 |
2.7e-19 |
PFAM |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115017
AA Change: L925H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: L925H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
309 |
560 |
1e-33 |
PFAM |
|
low complexity region
|
609 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148834
|
| SMART Domains |
Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
87% (46/53) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. 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 |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
T |
C |
5: 90,727,531 (GRCm39) |
L383S |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,109,276 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 97,015,462 (GRCm39) |
H1577R |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,302,694 (GRCm39) |
N9S |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,279,079 (GRCm39) |
V491A |
possibly damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,285,865 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,763 (GRCm39) |
Q150L |
possibly damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,363 (GRCm39) |
Y1336* |
probably null |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,445 (GRCm39) |
T1796A |
probably benign |
Het |
| Defa27 |
T |
A |
8: 21,805,657 (GRCm39) |
D32E |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,744,019 (GRCm39) |
E96G |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,311,069 (GRCm39) |
Y380F |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,890,195 (GRCm39) |
N243K |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,776,568 (GRCm39) |
A491V |
probably damaging |
Het |
| Gm14305 |
A |
G |
2: 176,410,790 (GRCm39) |
Q15R |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,213,291 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,624,513 (GRCm39) |
H360R |
probably damaging |
Het |
| Ifi203 |
G |
A |
1: 173,754,688 (GRCm39) |
T681I |
unknown |
Het |
| Klc2 |
A |
G |
19: 5,158,647 (GRCm39) |
S616P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,258 (GRCm39) |
Y704C |
probably damaging |
Het |
| Lingo4 |
A |
C |
3: 94,306,767 (GRCm39) |
D15A |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,795,884 (GRCm39) |
N286Y |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,963 (GRCm39) |
T374A |
not run |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,576,791 (GRCm39) |
T847A |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,825 (GRCm39) |
M763K |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or1p4-ps1 |
A |
C |
11: 74,208,357 (GRCm39) |
T169P |
unknown |
Het |
| Or2r3 |
T |
A |
6: 42,448,870 (GRCm39) |
M81L |
probably benign |
Het |
| Or5m11 |
A |
T |
2: 85,782,218 (GRCm39) |
E270D |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,092,002 (GRCm39) |
V39E |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Pabpc4 |
T |
G |
4: 123,182,763 (GRCm39) |
D133E |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,542,144 (GRCm39) |
C816S |
probably damaging |
Het |
| Pgm2 |
A |
G |
5: 64,265,522 (GRCm39) |
T408A |
possibly damaging |
Het |
| Polr2m |
G |
C |
9: 71,390,757 (GRCm39) |
Y148* |
probably null |
Het |
| Reln |
T |
C |
5: 22,176,933 (GRCm39) |
N1911S |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,026,445 (GRCm39) |
D1124G |
unknown |
Het |
| Scgb1b19 |
C |
T |
7: 32,986,784 (GRCm39) |
T18I |
probably damaging |
Het |
| Septin12 |
T |
A |
16: 4,814,320 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,539,491 (GRCm39) |
M22K |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smchd1 |
A |
G |
17: 71,705,684 (GRCm39) |
F972L |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,409 (GRCm39) |
Y85C |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,247 (GRCm39) |
V557I |
possibly damaging |
Het |
| Tcirg1 |
G |
T |
19: 3,947,160 (GRCm39) |
Q634K |
probably damaging |
Het |
| Tma7 |
T |
A |
9: 108,911,507 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
A |
G |
17: 25,299,414 (GRCm39) |
L35P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Tubb2a |
A |
G |
13: 34,259,227 (GRCm39) |
S188P |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,029,751 (GRCm39) |
L485F |
|
Het |
| Vmn1r71 |
A |
T |
7: 10,482,378 (GRCm39) |
S103R |
probably damaging |
Het |
| Vmn2r40 |
C |
T |
7: 8,911,119 (GRCm39) |
D725N |
|
Het |
| Zfp473 |
T |
C |
7: 44,383,128 (GRCm39) |
R402G |
possibly damaging |
Het |
| Zfp82 |
A |
T |
7: 29,755,851 (GRCm39) |
S410R |
probably damaging |
Het |
|
| Other mutations in Agbl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Agbl3
|
APN |
6 |
34,823,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Agbl3
|
APN |
6 |
34,776,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00840:Agbl3
|
APN |
6 |
34,776,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01090:Agbl3
|
APN |
6 |
34,776,822 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01123:Agbl3
|
APN |
6 |
34,823,911 (GRCm39) |
nonsense |
probably null |
|
|
IGL01707:Agbl3
|
APN |
6 |
34,816,389 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01728:Agbl3
|
APN |
6 |
34,759,092 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02335:Agbl3
|
APN |
6 |
34,776,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Agbl3
|
APN |
6 |
34,762,242 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02551:Agbl3
|
APN |
6 |
34,800,006 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02974:Agbl3
|
APN |
6 |
34,776,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Agbl3
|
APN |
6 |
34,834,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03182:Agbl3
|
APN |
6 |
34,780,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Agbl3
|
UTSW |
6 |
34,776,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Agbl3
|
UTSW |
6 |
34,816,270 (GRCm39) |
missense |
probably benign |
|
|
R0639:Agbl3
|
UTSW |
6 |
34,776,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Agbl3
|
UTSW |
6 |
34,776,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Agbl3
|
UTSW |
6 |
34,780,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1080:Agbl3
|
UTSW |
6 |
34,805,170 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1589:Agbl3
|
UTSW |
6 |
34,834,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2361:Agbl3
|
UTSW |
6 |
34,809,440 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2495:Agbl3
|
UTSW |
6 |
34,823,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3237:Agbl3
|
UTSW |
6 |
34,800,022 (GRCm39) |
splice site |
probably null |
|
|
R3420:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3421:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3422:Agbl3
|
UTSW |
6 |
34,770,900 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3810:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Agbl3
|
UTSW |
6 |
34,776,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Agbl3
|
UTSW |
6 |
34,823,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Agbl3
|
UTSW |
6 |
34,834,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Agbl3
|
UTSW |
6 |
34,775,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Agbl3
|
UTSW |
6 |
34,762,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5354:Agbl3
|
UTSW |
6 |
34,791,687 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5386:Agbl3
|
UTSW |
6 |
34,776,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Agbl3
|
UTSW |
6 |
34,780,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6018:Agbl3
|
UTSW |
6 |
34,776,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Agbl3
|
UTSW |
6 |
34,834,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6305:Agbl3
|
UTSW |
6 |
34,759,145 (GRCm39) |
missense |
unknown |
|
|
R6525:Agbl3
|
UTSW |
6 |
34,780,529 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Agbl3
|
UTSW |
6 |
34,776,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Agbl3
|
UTSW |
6 |
34,823,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6986:Agbl3
|
UTSW |
6 |
34,816,387 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7023:Agbl3
|
UTSW |
6 |
34,791,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7411:Agbl3
|
UTSW |
6 |
34,791,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Agbl3
|
UTSW |
6 |
34,791,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Agbl3
|
UTSW |
6 |
34,809,443 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7743:Agbl3
|
UTSW |
6 |
34,823,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Agbl3
|
UTSW |
6 |
34,816,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Agbl3
|
UTSW |
6 |
34,816,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8203:Agbl3
|
UTSW |
6 |
34,776,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Agbl3
|
UTSW |
6 |
34,834,549 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9072:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Agbl3
|
UTSW |
6 |
34,776,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Agbl3
|
UTSW |
6 |
34,775,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Agbl3
|
UTSW |
6 |
34,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Agbl3
|
UTSW |
6 |
34,823,861 (GRCm39) |
missense |
probably benign |
|
|
R9560:Agbl3
|
UTSW |
6 |
34,823,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9662:Agbl3
|
UTSW |
6 |
34,809,468 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Agbl3
|
UTSW |
6 |
34,776,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1177:Agbl3
|
UTSW |
6 |
34,776,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCGAGGGAAACTTTACAGTC -3'
(R):5'- GCCCAGTTAACTGTTCCTGTG -3'
Sequencing Primer
(F):5'- GTCTGCATGATGACAGTATACCTAGG -3'
(R):5'- AAGGTGAGCAGGCCATCACTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation