Incidental Mutation 'R4687:Agbl3'
| ID |
353750 |
| 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 |
041938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34775261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 189
(V189A)
|
| 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: V189A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: V189A
| 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: V184A
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: V184A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 9,210,985 (GRCm39) |
Y45N |
probably damaging |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Amn |
A |
T |
12: 111,242,502 (GRCm39) |
D439V |
probably benign |
Het |
| Arhgap17 |
T |
A |
7: 122,920,826 (GRCm39) |
D149V |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,069,400 (GRCm39) |
I76N |
possibly damaging |
Het |
| Atp6v1h |
A |
T |
1: 5,203,308 (GRCm39) |
N291I |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,143,453 (GRCm39) |
P462T |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,230,936 (GRCm39) |
|
probably null |
Het |
| Cabp7 |
T |
A |
11: 4,689,265 (GRCm39) |
K127* |
probably null |
Het |
| Cacna1h |
A |
G |
17: 25,612,884 (GRCm39) |
V313A |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,891,787 (GRCm39) |
H245R |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,816,661 (GRCm39) |
S1761C |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,207,372 (GRCm39) |
E1849G |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,477 (GRCm39) |
L174P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,610,454 (GRCm39) |
C303F |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,385 (GRCm39) |
Q396R |
probably damaging |
Het |
| Dnajc7 |
G |
A |
11: 100,490,126 (GRCm39) |
P43L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,957,040 (GRCm39) |
H16R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,375,595 (GRCm39) |
T1127A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,204 (GRCm39) |
L1525P |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,471 (GRCm39) |
D192V |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,938,868 (GRCm39) |
N71K |
probably damaging |
Het |
| Furin |
T |
A |
7: 80,043,195 (GRCm39) |
T339S |
probably benign |
Het |
| Gad1 |
T |
A |
2: 70,431,064 (GRCm39) |
I569N |
possibly damaging |
Het |
| Gfi1 |
T |
C |
5: 107,871,676 (GRCm39) |
K10R |
probably damaging |
Het |
| Gm20775 |
T |
A |
Y: 10,641,258 (GRCm39) |
|
noncoding transcript |
Homo |
| Gpn3 |
A |
C |
5: 122,516,638 (GRCm39) |
D89A |
possibly damaging |
Het |
| Gpr18 |
T |
A |
14: 122,149,090 (GRCm39) |
R312* |
probably null |
Het |
| Gsap |
T |
C |
5: 21,451,969 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
C |
A |
17: 34,483,783 (GRCm39) |
T48K |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,328,297 (GRCm39) |
N4326I |
probably benign |
Het |
| Igkv4-51 |
A |
C |
6: 69,658,714 (GRCm39) |
|
probably benign |
Het |
| Insr |
T |
C |
8: 3,211,709 (GRCm39) |
H1104R |
probably benign |
Het |
| Ipo13 |
A |
T |
4: 117,758,773 (GRCm39) |
N697K |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,489,617 (GRCm39) |
F362V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,704 (GRCm39) |
S425P |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,710,477 (GRCm39) |
E242G |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,001,280 (GRCm39) |
K829R |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,129,452 (GRCm39) |
N145S |
possibly damaging |
Het |
| Klra9 |
A |
T |
6: 130,162,480 (GRCm39) |
D185E |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,333 (GRCm39) |
N15S |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,809,370 (GRCm39) |
M151K |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,223 (GRCm39) |
S320T |
probably benign |
Het |
| Mrps5 |
C |
G |
2: 127,432,690 (GRCm39) |
A37G |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,798,496 (GRCm39) |
I800T |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,022 (GRCm39) |
Q451L |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,965,486 (GRCm39) |
T476A |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,941,393 (GRCm39) |
E145G |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,194,047 (GRCm39) |
S660R |
possibly damaging |
Het |
| Nppb |
A |
G |
4: 148,070,753 (GRCm39) |
K43E |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,220,645 (GRCm39) |
Q906L |
probably benign |
Het |
| Or10k2 |
T |
A |
8: 84,268,489 (GRCm39) |
S239T |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,213 (GRCm39) |
D82G |
probably damaging |
Het |
| Or8c17 |
C |
A |
9: 38,180,710 (GRCm39) |
N292K |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,052 (GRCm39) |
I53T |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,564 (GRCm39) |
E692G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,633,501 (GRCm39) |
F578L |
probably damaging |
Het |
| Piezo2 |
A |
C |
18: 63,203,034 (GRCm39) |
D1535E |
probably damaging |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,873 (GRCm39) |
V130A |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,095,724 (GRCm39) |
Y32H |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,798,080 (GRCm39) |
V682E |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,307,594 (GRCm39) |
M455L |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,374,754 (GRCm39) |
D739G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,213 (GRCm39) |
D483G |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,457,776 (GRCm39) |
D17G |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,217,984 (GRCm39) |
C451Y |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,306,939 (GRCm39) |
Y165C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,249,776 (GRCm39) |
F68L |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,689 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,114,711 (GRCm39) |
I65T |
probably damaging |
Het |
| Tas2r115 |
C |
T |
6: 132,714,247 (GRCm39) |
A235T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,939,924 (GRCm39) |
A1400T |
probably benign |
Het |
| Tet1 |
T |
A |
10: 62,674,570 (GRCm39) |
N1169Y |
probably benign |
Het |
| Treml2 |
T |
A |
17: 48,616,425 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
A |
G |
6: 127,915,198 (GRCm39) |
E104G |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,023,742 (GRCm39) |
A543V |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,317,189 (GRCm39) |
D578E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,682 (GRCm39) |
N542I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,681 (GRCm39) |
N542Y |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,793 (GRCm39) |
E65D |
probably benign |
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 |
|
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'- TTGTGTCCTAAGCAGAATCCAG -3'
(R):5'- GTTATAAATACTGGCCTAGGAATGG -3'
Sequencing Primer
(F):5'- GCAGAATCCAGAACTTAGTCTCTG -3'
(R):5'- CCTTAACACTCATAGTTAGCAT -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation