Incidental Mutation 'R7704:Agbl2'
ID |
594169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agbl2
|
Ensembl Gene |
ENSMUSG00000040812 |
Gene Name |
ATP/GTP binding protein-like 2 |
Synonyms |
Ccp2, A430081C19Rik, Ccp2 |
MMRRC Submission |
045765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90613071-90664781 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 90619349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 58
(N58T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037206]
[ENSMUST00000037219]
[ENSMUST00000051831]
[ENSMUST00000111481]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
AlphaFold |
Q8CDK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037206
AA Change: N58T
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047936 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
probably benign
Transcript: ENSMUST00000037219
AA Change: N58T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000048647 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
probably benign
Transcript: ENSMUST00000051831
AA Change: N58T
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000051620 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
probably benign
Transcript: ENSMUST00000111481
AA Change: N58T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107106 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
probably benign
Transcript: ENSMUST00000136058
AA Change: N58T
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115632 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
probably benign
Transcript: ENSMUST00000170320
AA Change: N58T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000129216 Gene: ENSMUSG00000040812 AA Change: N58T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
A |
7: 45,756,068 (GRCm39) |
W1458L |
probably damaging |
Het |
Actn4 |
A |
T |
7: 28,596,467 (GRCm39) |
I676N |
possibly damaging |
Het |
Adamts10 |
T |
C |
17: 33,770,126 (GRCm39) |
C1002R |
probably damaging |
Het |
Akap12 |
A |
T |
10: 4,306,082 (GRCm39) |
D1069V |
probably damaging |
Het |
Bltp2 |
C |
A |
11: 78,159,570 (GRCm39) |
Q540K |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,967,527 (GRCm39) |
T184S |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,987,737 (GRCm39) |
V1517A |
probably benign |
Het |
CN725425 |
T |
A |
15: 91,119,993 (GRCm39) |
V38D |
possibly damaging |
Het |
Copg1 |
T |
A |
6: 87,884,940 (GRCm39) |
L712Q |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,429,865 (GRCm39) |
Y293C |
probably damaging |
Het |
Ddx46 |
C |
T |
13: 55,821,832 (GRCm39) |
P839S |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,496,174 (GRCm39) |
V1164A |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,632,200 (GRCm39) |
I4490N |
probably damaging |
Het |
Ecm1 |
A |
C |
3: 95,643,843 (GRCm39) |
Y236D |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,173 (GRCm39) |
T1847A |
probably benign |
Het |
Galc |
T |
A |
12: 98,175,102 (GRCm39) |
I567L |
probably benign |
Het |
Gask1a |
C |
T |
9: 121,780,151 (GRCm39) |
|
probably benign |
Het |
H6pd |
T |
C |
4: 150,067,360 (GRCm39) |
D350G |
probably benign |
Het |
Ifi44 |
A |
G |
3: 151,438,061 (GRCm39) |
Y409H |
probably benign |
Het |
Kdm5a |
T |
G |
6: 120,404,025 (GRCm39) |
F1210C |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,515,669 (GRCm39) |
R98C |
probably damaging |
Het |
Lipt1 |
T |
A |
1: 37,915,043 (GRCm39) |
C366* |
probably null |
Het |
Med13 |
G |
A |
11: 86,236,744 (GRCm39) |
R138* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,845 (GRCm39) |
C8R |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,382,897 (GRCm39) |
I243F |
probably damaging |
Het |
Nop58 |
T |
C |
1: 59,744,754 (GRCm39) |
S304P |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,028,811 (GRCm39) |
*167Q |
probably null |
Het |
Or1e30 |
T |
G |
11: 73,678,616 (GRCm39) |
M284R |
probably damaging |
Het |
Or2t35 |
T |
A |
14: 14,407,867 (GRCm38) |
I213N |
probably damaging |
Het |
Or52ab2 |
T |
A |
7: 102,969,978 (GRCm39) |
M120K |
|
Het |
Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
Prdm16 |
C |
T |
4: 154,425,947 (GRCm39) |
G613R |
probably damaging |
Het |
Prss46 |
T |
C |
9: 110,679,065 (GRCm39) |
S89P |
probably damaging |
Het |
Scin |
T |
C |
12: 40,174,687 (GRCm39) |
N132S |
possibly damaging |
Het |
Sec14l2 |
T |
C |
11: 4,058,574 (GRCm39) |
K196R |
probably benign |
Het |
Sox17 |
C |
A |
1: 4,563,895 (GRCm39) |
|
probably benign |
Het |
Tango6 |
A |
G |
8: 107,425,621 (GRCm39) |
T394A |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,250,876 (GRCm39) |
I398N |
probably damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,752 (GRCm39) |
I183V |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,689,461 (GRCm39) |
V285A |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,123,497 (GRCm39) |
T35S |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,606,494 (GRCm39) |
I1289F |
probably benign |
Het |
Ust |
C |
T |
10: 8,205,987 (GRCm39) |
V99I |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,344 (GRCm39) |
V290A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,781,665 (GRCm39) |
N360S |
probably benign |
Het |
Vmn2r93 |
T |
C |
17: 18,536,910 (GRCm39) |
I531T |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,818,395 (GRCm39) |
|
probably null |
Het |
Zfp932 |
A |
G |
5: 110,157,630 (GRCm39) |
N443D |
probably benign |
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 |
IGL01694:Agbl2
|
APN |
2 |
90,631,418 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCATACATTGGAATGTTGAGAG -3'
(R):5'- AAATACTGTTGGGGCGGAGT -3'
Sequencing Primer
(F):5'- CCTGTTATGGACAATGGTAATACAAG -3'
(R):5'- TGGGGGAAGTTTTTGGGAGACAG -3'
|
Posted On |
2019-11-12 |