Incidental Mutation 'R6525:Agbl3'
| ID |
521696 |
| 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 |
044651-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34757367-34836394 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 34780529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 496
(K496*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115016]
[ENSMUST00000115017]
[ENSMUST00000135304]
[ENSMUST00000148834]
|
| AlphaFold |
Q8CDP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115016
AA Change: K501*
|
| SMART Domains |
Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: K501*
| 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 null
Transcript: ENSMUST00000115017
AA Change: K496*
|
| SMART Domains |
Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: K496*
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
96% (71/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,931,308 (GRCm39) |
E1447G |
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,392,337 (GRCm39) |
N261S |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,609,243 (GRCm39) |
G859* |
probably null |
Het |
| Antxrl |
A |
T |
14: 33,782,363 (GRCm39) |
D182V |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 67,933,496 (GRCm39) |
L559P |
possibly damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,663 (GRCm39) |
S60T |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,176,048 (GRCm39) |
Y1931H |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,775,574 (GRCm39) |
E49V |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,339 (GRCm39) |
N160D |
possibly damaging |
Het |
| Crem |
C |
A |
18: 3,268,070 (GRCm39) |
R267L |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,844,145 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
C |
9: 44,534,926 (GRCm39) |
I127T |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,606,304 (GRCm39) |
Y2094N |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,202,216 (GRCm39) |
N181K |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,246,483 (GRCm39) |
K163E |
possibly damaging |
Het |
| Dynlt1a |
T |
A |
17: 6,362,014 (GRCm39) |
T55S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,607 (GRCm39) |
N451S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,269,590 (GRCm39) |
|
probably null |
Het |
| Fam53a |
T |
C |
5: 33,765,262 (GRCm39) |
N148S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,174,626 (GRCm39) |
D2029G |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,383,950 (GRCm39) |
E17D |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,003 (GRCm39) |
V320A |
possibly damaging |
Het |
| Gna13 |
T |
C |
11: 109,286,765 (GRCm39) |
I196T |
probably damaging |
Het |
| Gorasp1 |
G |
T |
9: 119,757,061 (GRCm39) |
P374T |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,881,236 (GRCm39) |
D1461G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,573,317 (GRCm39) |
N2111D |
probably damaging |
Het |
| Hs3st3b1 |
G |
A |
11: 63,812,424 (GRCm39) |
S97L |
probably benign |
Het |
| Hsdl2 |
A |
G |
4: 59,612,696 (GRCm39) |
T296A |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,025,512 (GRCm39) |
D48G |
probably damaging |
Het |
| Kbtbd12 |
A |
T |
6: 88,591,062 (GRCm39) |
N383K |
probably benign |
Het |
| Kcnj12 |
T |
G |
11: 60,960,397 (GRCm39) |
F232V |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Ldhb |
T |
C |
6: 142,436,191 (GRCm39) |
D326G |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,505,432 (GRCm39) |
L607S |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,217,074 (GRCm39) |
S388P |
probably damaging |
Het |
| Mansc4 |
A |
G |
6: 146,976,645 (GRCm39) |
S324P |
probably benign |
Het |
| Meltf |
G |
A |
16: 31,707,717 (GRCm39) |
W368* |
probably null |
Het |
| Nacad |
A |
G |
11: 6,552,255 (GRCm39) |
L312P |
probably damaging |
Het |
| Ndc1 |
G |
T |
4: 107,225,304 (GRCm39) |
G7W |
probably benign |
Het |
| Nmral1 |
T |
A |
16: 4,532,296 (GRCm39) |
K172* |
probably null |
Het |
| Nol9 |
G |
T |
4: 152,123,906 (GRCm39) |
R32L |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,403,912 (GRCm39) |
Y296C |
probably damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,329 (GRCm39) |
T245I |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,970,571 (GRCm39) |
D120G |
possibly damaging |
Het |
| Parp14 |
C |
T |
16: 35,680,811 (GRCm39) |
C274Y |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,282,679 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,521,048 (GRCm39) |
I865V |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,543,936 (GRCm39) |
S360C |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,184,467 (GRCm39) |
S389P |
unknown |
Het |
| Prr16 |
T |
G |
18: 51,436,227 (GRCm39) |
S235R |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,527 (GRCm39) |
N183S |
probably benign |
Het |
| Rcn1 |
A |
G |
2: 105,219,320 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,325,288 (GRCm39) |
A374S |
probably benign |
Het |
| Skint8 |
A |
T |
4: 111,785,935 (GRCm39) |
D127V |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,182,796 (GRCm39) |
K724E |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,667 (GRCm39) |
N537S |
unknown |
Het |
| Slc26a5 |
T |
C |
5: 22,025,348 (GRCm39) |
D457G |
possibly damaging |
Het |
| Slx4ip |
T |
C |
2: 136,842,138 (GRCm39) |
V21A |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,087,626 (GRCm39) |
Y291H |
probably damaging |
Het |
| Syn3 |
G |
A |
10: 86,302,916 (GRCm39) |
P80S |
probably damaging |
Het |
| Tasor2 |
G |
A |
13: 3,626,540 (GRCm39) |
Q455* |
probably null |
Het |
| Tiam1 |
A |
T |
16: 89,655,485 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,993,399 (GRCm39) |
D58G |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,800,266 (GRCm39) |
I621F |
probably damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,629 (GRCm39) |
S683N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,436 (GRCm39) |
L2322P |
probably damaging |
Het |
| Ugdh |
G |
T |
5: 65,574,402 (GRCm39) |
H409N |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,560 (GRCm39) |
M817K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zbtb34 |
A |
G |
2: 33,302,145 (GRCm39) |
V132A |
probably damaging |
Het |
| Zfp119b |
A |
G |
17: 56,246,992 (GRCm39) |
C33R |
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 |
|
|
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'- GAGAAATGCGTCCTTATGGAAAAC -3'
(R):5'- GCTGGTCTTAGAATGAGGGATC -3'
Sequencing Primer
(F):5'- CGTATCTATAGAAGAAAATTCAGGGG -3'
(R):5'- TGGCCATTTAACAGTTCCAAATAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation