Incidental Mutation 'R0044:Agbl3'
ID |
32875 |
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 |
038338-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0044 (G1)
|
Quality Score |
204 |
Status
|
Validated
(trace)
|
Chromosome |
6 |
Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34776834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 447
(M447L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110668
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
AlphaFold |
Q8CDP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115016
AA Change: M447L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110668 Gene: ENSMUSG00000038836 AA Change: M447L
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 benign
Transcript: ENSMUST00000115017
AA Change: M442L
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110669 Gene: ENSMUSG00000038836 AA Change: M442L
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: ENSMUST00000135304
|
SMART Domains |
Protein: ENSMUSP00000118303 Gene: ENSMUSG00000038836
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143474
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155726
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202017
|
Meta Mutation Damage Score |
0.1135 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
100% (77/77) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430571L13Rik |
A |
C |
9: 107,219,698 (GRCm39) |
R50S |
probably damaging |
Het |
Actn2 |
G |
T |
13: 12,290,013 (GRCm39) |
T176N |
possibly damaging |
Het |
Adamts7 |
T |
C |
9: 90,053,641 (GRCm39) |
V62A |
possibly damaging |
Het |
Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
Atp11b |
T |
A |
3: 35,866,401 (GRCm39) |
I400N |
probably damaging |
Het |
Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
Capn1 |
T |
A |
19: 6,064,373 (GRCm39) |
Y42F |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,871,295 (GRCm39) |
I594V |
probably null |
Het |
Cpsf1 |
A |
G |
15: 76,483,753 (GRCm39) |
V830A |
probably benign |
Het |
Cyp2c70 |
T |
A |
19: 40,153,815 (GRCm39) |
N258I |
possibly damaging |
Het |
Dctn1 |
T |
G |
6: 83,168,116 (GRCm39) |
Y386D |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,290 (GRCm39) |
H41Q |
possibly damaging |
Het |
Ebf2 |
C |
T |
14: 67,548,417 (GRCm39) |
|
probably benign |
Het |
Fcho2 |
A |
G |
13: 98,892,052 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
Gm10036 |
A |
C |
18: 15,965,873 (GRCm39) |
K8T |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,715,170 (GRCm39) |
C119S |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
Kif6 |
T |
C |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,618,530 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,357,899 (GRCm39) |
I377V |
probably benign |
Het |
Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mreg |
T |
G |
1: 72,201,534 (GRCm39) |
T153P |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,962,043 (GRCm39) |
I172T |
probably damaging |
Het |
Odad4 |
A |
T |
11: 100,457,827 (GRCm39) |
I477F |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,974 (GRCm39) |
I32T |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,532,527 (GRCm39) |
L664S |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,435,576 (GRCm39) |
T609A |
probably benign |
Het |
Plcb4 |
T |
A |
2: 135,813,776 (GRCm39) |
V705E |
probably damaging |
Het |
Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,007,402 (GRCm39) |
I1655N |
probably damaging |
Het |
Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
Rexo1 |
T |
A |
10: 80,380,212 (GRCm39) |
Q928L |
probably benign |
Het |
Rpl7l1 |
A |
C |
17: 47,089,456 (GRCm39) |
|
probably null |
Het |
Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
Sgtb |
A |
G |
13: 104,265,768 (GRCm39) |
T93A |
probably benign |
Het |
Sigirr |
G |
T |
7: 140,672,226 (GRCm39) |
|
probably null |
Het |
Slc16a7 |
T |
C |
10: 125,063,951 (GRCm39) |
D462G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,007,089 (GRCm39) |
A85T |
probably benign |
Het |
Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
Srgap2 |
A |
G |
1: 131,247,289 (GRCm39) |
I581T |
possibly damaging |
Het |
Syn2 |
A |
T |
6: 115,112,108 (GRCm39) |
M23L |
unknown |
Het |
Synrg |
G |
A |
11: 83,900,007 (GRCm39) |
V839I |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,314,327 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,202,972 (GRCm39) |
I721N |
possibly damaging |
Het |
Ttc22 |
T |
G |
4: 106,494,003 (GRCm39) |
V321G |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,269,281 (GRCm39) |
|
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,742,441 (GRCm39) |
I272L |
possibly damaging |
Het |
Vrtn |
T |
A |
12: 84,695,379 (GRCm39) |
L43H |
probably damaging |
Het |
Wnk1 |
G |
T |
6: 120,014,110 (GRCm39) |
R162S |
probably damaging |
Het |
Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
Zfp804b |
G |
T |
5: 6,819,655 (GRCm39) |
P1136H |
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 |
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 |
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'- ACGCTTGCTTCGGGACACTTTC -3'
(R):5'- ACTCATCCAGCACTGTATGATTGGC -3'
Sequencing Primer
(F):5'- CGGGACACTTTCATCTTCAAGG -3'
(R):5'- GTCTGTTTCATCACTGAAGGGAAAG -3'
|
Posted On |
2013-05-09 |