Incidental Mutation 'IGL01694:Agbl2'
| ID |
104215 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Agbl2
|
| Ensembl Gene |
ENSMUSG00000040812 |
| Gene Name |
ATP/GTP binding protein-like 2 |
| Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90631418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 259
(L259F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
| AlphaFold |
Q8CDK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037206
AA Change: L259F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047936
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
375 |
541 |
1.8e-18 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037219
AA Change: L259F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
374 |
618 |
5e-32 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051831
AA Change: L259F
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
376 |
565 |
1.6e-18 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111481
AA Change: L259F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107106
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
374 |
618 |
5e-32 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118431
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136058
AA Change: L259F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
374 |
618 |
2.8e-32 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149037
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170320
AA Change: L259F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
AA Change: L259F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
376 |
558 |
1.8e-18 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149361
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
Het |
|
| Other mutations in Agbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Agbl2
|
APN |
2 |
90,631,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00515:Agbl2
|
APN |
2 |
90,624,304 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02064:Agbl2
|
APN |
2 |
90,614,368 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02708:Agbl2
|
APN |
2 |
90,631,686 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02715:Agbl2
|
APN |
2 |
90,636,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02717:Agbl2
|
APN |
2 |
90,636,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02982:Agbl2
|
APN |
2 |
90,636,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Agbl2
|
APN |
2 |
90,631,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03339:Agbl2
|
APN |
2 |
90,627,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Agbl2
|
UTSW |
2 |
90,621,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0381:Agbl2
|
UTSW |
2 |
90,614,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Agbl2
|
UTSW |
2 |
90,627,827 (GRCm39) |
nonsense |
probably null |
|
|
R0549:Agbl2
|
UTSW |
2 |
90,620,187 (GRCm39) |
splice site |
probably benign |
|
|
R0665:Agbl2
|
UTSW |
2 |
90,631,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Agbl2
|
UTSW |
2 |
90,619,298 (GRCm39) |
missense |
probably benign |
|
|
R1682:Agbl2
|
UTSW |
2 |
90,614,434 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1694:Agbl2
|
UTSW |
2 |
90,631,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Agbl2
|
UTSW |
2 |
90,641,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Agbl2
|
UTSW |
2 |
90,646,720 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1916:Agbl2
|
UTSW |
2 |
90,645,785 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1940:Agbl2
|
UTSW |
2 |
90,641,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3115:Agbl2
|
UTSW |
2 |
90,636,245 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3407:Agbl2
|
UTSW |
2 |
90,621,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Agbl2
|
UTSW |
2 |
90,636,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4227:Agbl2
|
UTSW |
2 |
90,631,797 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4719:Agbl2
|
UTSW |
2 |
90,645,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4903:Agbl2
|
UTSW |
2 |
90,627,817 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5170:Agbl2
|
UTSW |
2 |
90,633,541 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5535:Agbl2
|
UTSW |
2 |
90,640,350 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5677:Agbl2
|
UTSW |
2 |
90,638,322 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6041:Agbl2
|
UTSW |
2 |
90,638,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6195:Agbl2
|
UTSW |
2 |
90,643,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6233:Agbl2
|
UTSW |
2 |
90,643,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6607:Agbl2
|
UTSW |
2 |
90,631,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6752:Agbl2
|
UTSW |
2 |
90,633,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Agbl2
|
UTSW |
2 |
90,627,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Agbl2
|
UTSW |
2 |
90,619,288 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7555:Agbl2
|
UTSW |
2 |
90,621,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7704:Agbl2
|
UTSW |
2 |
90,619,349 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7833:Agbl2
|
UTSW |
2 |
90,645,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7960:Agbl2
|
UTSW |
2 |
90,621,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8070:Agbl2
|
UTSW |
2 |
90,621,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Agbl2
|
UTSW |
2 |
90,627,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Agbl2
|
UTSW |
2 |
90,627,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Agbl2
|
UTSW |
2 |
90,627,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Agbl2
|
UTSW |
2 |
90,631,499 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8501:Agbl2
|
UTSW |
2 |
90,627,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Agbl2
|
UTSW |
2 |
90,632,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9039:Agbl2
|
UTSW |
2 |
90,645,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9475:Agbl2
|
UTSW |
2 |
90,614,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9513:Agbl2
|
UTSW |
2 |
90,631,458 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9580:Agbl2
|
UTSW |
2 |
90,636,248 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2014-01-21 |
Incidental Mutation