Incidental Mutation 'R9255:Agbl3'
ID |
701797 |
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 |
068961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9255 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34789840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 531
(M531K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000148834]
|
AlphaFold |
Q8CDP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: M531K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836 AA Change: M531K
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 |
possibly damaging
Transcript: ENSMUST00000115017
AA Change: M526K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836 AA Change: M526K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,626,795 (GRCm39) |
Y549C |
probably damaging |
Het |
Abca13 |
A |
C |
11: 9,278,213 (GRCm39) |
N3131T |
probably damaging |
Het |
Acap3 |
T |
C |
4: 155,990,145 (GRCm39) |
V775A |
probably benign |
Het |
Actn3 |
T |
A |
19: 4,921,820 (GRCm39) |
I149F |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 69,036,199 (GRCm39) |
M154K |
possibly damaging |
Het |
Agbl1 |
A |
T |
7: 76,416,150 (GRCm39) |
M976L |
unknown |
Het |
Armc8 |
A |
C |
9: 99,379,441 (GRCm39) |
M495R |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 65,563,085 (GRCm39) |
K899* |
probably null |
Het |
Atp10b |
T |
A |
11: 43,107,148 (GRCm39) |
H727Q |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,519,401 (GRCm39) |
I564V |
possibly damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc136 |
T |
A |
6: 29,409,237 (GRCm39) |
H183Q |
probably benign |
Het |
Celf3 |
T |
C |
3: 94,392,594 (GRCm39) |
F98L |
probably benign |
Het |
Chrd |
G |
A |
16: 20,558,801 (GRCm39) |
C845Y |
probably damaging |
Het |
Clec1a |
T |
G |
6: 129,409,208 (GRCm39) |
K139N |
probably benign |
Het |
Cntln |
T |
G |
4: 85,019,103 (GRCm39) |
N130K |
possibly damaging |
Het |
Cog1 |
A |
T |
11: 113,547,019 (GRCm39) |
T538S |
probably benign |
Het |
Cog8 |
A |
G |
8: 107,779,383 (GRCm39) |
I298T |
probably damaging |
Het |
Dio1 |
A |
T |
4: 107,164,102 (GRCm39) |
W72R |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,376,864 (GRCm39) |
R453G |
probably damaging |
Het |
Exph5 |
T |
A |
9: 53,284,609 (GRCm39) |
N563K |
possibly damaging |
Het |
Foxn1 |
C |
A |
11: 78,252,399 (GRCm39) |
E330* |
probably null |
Het |
Fzd7 |
G |
T |
1: 59,522,495 (GRCm39) |
R126L |
possibly damaging |
Het |
Gmnn |
A |
G |
13: 24,937,351 (GRCm39) |
Y147H |
probably benign |
Het |
Gpa33 |
A |
G |
1: 165,980,186 (GRCm39) |
N83S |
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,889,173 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,261,972 (GRCm39) |
D2691G |
probably benign |
Het |
Ifi203 |
A |
T |
1: 173,756,787 (GRCm39) |
I332N |
unknown |
Het |
Inpp1 |
A |
G |
1: 52,829,306 (GRCm39) |
S238P |
probably benign |
Het |
Jmy |
A |
G |
13: 93,589,894 (GRCm39) |
|
probably null |
Het |
Kcnab3 |
C |
T |
11: 69,222,337 (GRCm39) |
Q327* |
probably null |
Het |
Kctd1 |
A |
G |
18: 15,194,853 (GRCm39) |
V590A |
probably benign |
Het |
Lrrc8e |
A |
T |
8: 4,284,504 (GRCm39) |
H243L |
probably damaging |
Het |
Lsr |
A |
G |
7: 30,657,670 (GRCm39) |
L498S |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,843,556 (GRCm39) |
D268G |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,598,287 (GRCm39) |
V203A |
possibly damaging |
Het |
Micu1 |
T |
A |
10: 59,604,051 (GRCm39) |
I212N |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Or11i1 |
A |
G |
3: 106,729,737 (GRCm39) |
I46T |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,046,423 (GRCm39) |
F103S |
probably damaging |
Het |
Or8g30 |
T |
C |
9: 39,230,487 (GRCm39) |
Y141C |
probably benign |
Het |
Pabpc6 |
T |
C |
17: 9,886,769 (GRCm39) |
E594G |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,176,989 (GRCm39) |
|
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,325,938 (GRCm39) |
I113T |
possibly damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pi4kb |
T |
C |
3: 94,906,219 (GRCm39) |
S589P |
probably damaging |
Het |
Pik3ca |
G |
A |
3: 32,496,981 (GRCm39) |
|
probably null |
Het |
Plekhg4 |
A |
T |
8: 106,103,271 (GRCm39) |
M315L |
probably benign |
Het |
Proz |
G |
A |
8: 13,123,472 (GRCm39) |
V248M |
possibly damaging |
Het |
Prss1 |
T |
C |
6: 41,438,183 (GRCm39) |
Y37H |
probably damaging |
Het |
R3hdml |
T |
A |
2: 163,337,612 (GRCm39) |
W89R |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 9,057,293 (GRCm39) |
T319A |
probably benign |
Het |
Scn4a |
C |
T |
11: 106,215,054 (GRCm39) |
A1246T |
probably damaging |
Het |
Sdr42e1 |
T |
A |
8: 118,389,999 (GRCm39) |
Y214F |
probably benign |
Het |
Slc10a2 |
C |
T |
8: 5,148,565 (GRCm39) |
V127I |
probably benign |
Het |
Slc16a1 |
T |
A |
3: 104,560,148 (GRCm39) |
M151K |
possibly damaging |
Het |
Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
Ssbp2 |
T |
A |
13: 91,818,525 (GRCm39) |
M171K |
possibly damaging |
Het |
Styk1 |
A |
G |
6: 131,286,946 (GRCm39) |
V183A |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tspan18 |
T |
G |
2: 93,040,200 (GRCm39) |
D185A |
probably benign |
Het |
Tti2 |
T |
A |
8: 31,645,570 (GRCm39) |
F320Y |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,608,621 (GRCm39) |
I17798M |
probably damaging |
Het |
Ube2j1 |
C |
A |
4: 33,036,759 (GRCm39) |
H28N |
probably benign |
Het |
Vmn1r195 |
A |
C |
13: 22,463,342 (GRCm39) |
I271L |
possibly damaging |
Het |
Vmn2r81 |
A |
C |
10: 79,103,166 (GRCm39) |
T120P |
possibly damaging |
Het |
Vmn2r-ps158 |
A |
T |
7: 42,673,965 (GRCm39) |
Y348F |
possibly damaging |
Het |
Wtip |
A |
G |
7: 33,824,908 (GRCm39) |
|
probably null |
Het |
Zc3h12d |
C |
T |
10: 7,729,022 (GRCm39) |
H129Y |
probably damaging |
Het |
Zfp600 |
T |
G |
4: 146,131,673 (GRCm39) |
S114A |
possibly 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 |
R7631:Agbl3
|
UTSW |
6 |
34,834,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- GAAGCTGACCCTGGTATTTGC -3'
(R):5'- GAGATACCCCACAAGAGAAGTTTATTC -3'
Sequencing Primer
(F):5'- ACCCTGGTATTTGCGAGTAAC -3'
(R):5'- CCACAAGAGAAGTTTATTCATCTTGC -3'
|
Posted On |
2022-03-25 |