Incidental Mutation 'IGL01977:Pja2'
ID |
181733 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01977
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64604821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 454
(D454G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024888]
[ENSMUST00000024889]
[ENSMUST00000172733]
[ENSMUST00000172818]
|
AlphaFold |
Q80U04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024888
AA Change: D454G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000024888 Gene: ENSMUSG00000024083 AA Change: D454G
Domain | Start | End | E-Value | Type |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
RING
|
633 |
673 |
3.84e-6 |
SMART |
low complexity region
|
678 |
703 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000024889
|
SMART Domains |
Protein: ENSMUSP00000024889 Gene: ENSMUSG00000024083
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
486 |
N/A |
INTRINSIC |
RING
|
571 |
611 |
3.84e-6 |
SMART |
low complexity region
|
616 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172733
|
SMART Domains |
Protein: ENSMUSP00000133730 Gene: ENSMUSG00000024083
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
486 |
N/A |
INTRINSIC |
RING
|
571 |
611 |
3.84e-6 |
SMART |
low complexity region
|
616 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172818
AA Change: D454G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000134380 Gene: ENSMUSG00000024083 AA Change: D454G
Domain | Start | End | E-Value | Type |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
RING
|
633 |
673 |
3.84e-6 |
SMART |
low complexity region
|
678 |
703 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,841,986 (GRCm39) |
S1040T |
probably benign |
Het |
Adam25 |
T |
C |
8: 41,208,134 (GRCm39) |
Y467H |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,605,449 (GRCm39) |
I1061V |
probably benign |
Het |
Anxa10 |
T |
C |
8: 62,529,348 (GRCm39) |
E123G |
probably damaging |
Het |
Arhgap35 |
G |
A |
7: 16,297,128 (GRCm39) |
L646F |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,320,590 (GRCm39) |
|
probably null |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,730,993 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc172 |
A |
G |
19: 58,541,309 (GRCm39) |
D256G |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,787,714 (GRCm39) |
A1375T |
probably benign |
Het |
Chrdl2 |
A |
T |
7: 99,671,263 (GRCm39) |
Q127L |
probably benign |
Het |
Cyp2c29 |
T |
C |
19: 39,279,341 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
C |
A |
9: 6,266,226 (GRCm39) |
V48F |
probably benign |
Het |
Ddrgk1 |
C |
T |
2: 130,497,166 (GRCm39) |
|
probably benign |
Het |
Fastkd1 |
C |
T |
2: 69,524,932 (GRCm39) |
V626I |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 92,001,543 (GRCm39) |
T755A |
probably benign |
Het |
Fpgt |
G |
T |
3: 154,793,655 (GRCm39) |
T124K |
probably damaging |
Het |
Gnl2 |
G |
A |
4: 124,941,405 (GRCm39) |
|
probably null |
Het |
Got1 |
A |
T |
19: 43,504,284 (GRCm39) |
S46T |
probably benign |
Het |
Hbb-bt |
G |
T |
7: 103,463,070 (GRCm39) |
H3N |
probably benign |
Het |
Ikbke |
C |
T |
1: 131,199,838 (GRCm39) |
|
probably benign |
Het |
Il2rb |
A |
G |
15: 78,365,897 (GRCm39) |
S467P |
probably benign |
Het |
Kcnma1 |
A |
G |
14: 23,580,367 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,876,973 (GRCm39) |
N391D |
probably damaging |
Het |
Npr3 |
A |
T |
15: 11,858,804 (GRCm39) |
I360N |
probably damaging |
Het |
Nradd |
G |
A |
9: 110,451,237 (GRCm39) |
P44S |
possibly damaging |
Het |
Or5m10 |
G |
T |
2: 85,717,711 (GRCm39) |
C189F |
probably damaging |
Het |
Or7h8 |
G |
A |
9: 20,123,755 (GRCm39) |
V37I |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,537 (GRCm39) |
E1005G |
possibly damaging |
Het |
Pcdhb11 |
A |
G |
18: 37,555,344 (GRCm39) |
T225A |
possibly damaging |
Het |
Pon3 |
T |
C |
6: 5,221,670 (GRCm39) |
Y320C |
probably damaging |
Het |
Prl2a1 |
A |
G |
13: 27,990,261 (GRCm39) |
D70G |
probably damaging |
Het |
Proc |
T |
A |
18: 32,260,472 (GRCm39) |
T218S |
probably benign |
Het |
Proz |
G |
T |
8: 13,116,913 (GRCm39) |
G155V |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,286,977 (GRCm39) |
E392G |
possibly damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,999,220 (GRCm39) |
R976* |
probably null |
Het |
Shisa2 |
G |
A |
14: 59,867,435 (GRCm39) |
C229Y |
probably damaging |
Het |
Slc2a5 |
T |
C |
4: 150,226,675 (GRCm39) |
V379A |
probably damaging |
Het |
Slc31a2 |
A |
T |
4: 62,214,197 (GRCm39) |
K47N |
probably damaging |
Het |
Sult2a6 |
G |
A |
7: 13,987,411 (GRCm39) |
T88I |
probably benign |
Het |
Tbc1d14 |
T |
C |
5: 36,662,381 (GRCm39) |
Y302C |
probably damaging |
Het |
Thumpd3 |
C |
A |
6: 113,036,927 (GRCm39) |
N275K |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
Tube1 |
G |
A |
10: 39,011,041 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
T |
A |
17: 31,192,742 (GRCm39) |
Y290N |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,402,661 (GRCm39) |
E726K |
probably damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,229,935 (GRCm39) |
D59V |
probably benign |
Het |
Vps11 |
T |
A |
9: 44,267,516 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
T |
C |
5: 65,385,912 (GRCm39) |
Y631H |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,957,526 (GRCm39) |
H88Y |
probably damaging |
Het |
Wdr93 |
A |
T |
7: 79,402,253 (GRCm39) |
N184I |
probably damaging |
Het |
Wnk4 |
T |
A |
11: 101,156,240 (GRCm39) |
F473Y |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,568,483 (GRCm39) |
W661R |
probably damaging |
Het |
|
Other mutations in Pja2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Pja2
|
APN |
17 |
64,590,526 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00945:Pja2
|
APN |
17 |
64,616,391 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01347:Pja2
|
APN |
17 |
64,620,023 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01831:Pja2
|
APN |
17 |
64,616,402 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02812:Pja2
|
APN |
17 |
64,604,789 (GRCm39) |
missense |
probably damaging |
1.00 |
G1patch:Pja2
|
UTSW |
17 |
64,596,962 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Pja2
|
UTSW |
17 |
64,618,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Pja2
|
UTSW |
17 |
64,615,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Pja2
|
UTSW |
17 |
64,615,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Pja2
|
UTSW |
17 |
64,594,516 (GRCm39) |
splice site |
probably benign |
|
R1240:Pja2
|
UTSW |
17 |
64,616,613 (GRCm39) |
missense |
probably benign |
0.00 |
R1528:Pja2
|
UTSW |
17 |
64,616,217 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1996:Pja2
|
UTSW |
17 |
64,594,639 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2111:Pja2
|
UTSW |
17 |
64,597,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R2201:Pja2
|
UTSW |
17 |
64,618,162 (GRCm39) |
splice site |
probably benign |
|
R2276:Pja2
|
UTSW |
17 |
64,599,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R2278:Pja2
|
UTSW |
17 |
64,599,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R3833:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R4598:Pja2
|
UTSW |
17 |
64,620,025 (GRCm39) |
start codon destroyed |
probably null |
0.69 |
R4801:Pja2
|
UTSW |
17 |
64,599,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Pja2
|
UTSW |
17 |
64,599,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Pja2
|
UTSW |
17 |
64,616,053 (GRCm39) |
missense |
probably benign |
0.00 |
R5634:Pja2
|
UTSW |
17 |
64,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Pja2
|
UTSW |
17 |
64,604,821 (GRCm39) |
missense |
probably benign |
0.02 |
R5905:Pja2
|
UTSW |
17 |
64,616,085 (GRCm39) |
missense |
probably benign |
0.26 |
R6028:Pja2
|
UTSW |
17 |
64,616,085 (GRCm39) |
missense |
probably benign |
0.26 |
R6382:Pja2
|
UTSW |
17 |
64,616,610 (GRCm39) |
missense |
probably benign |
0.07 |
R6650:Pja2
|
UTSW |
17 |
64,599,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R6725:Pja2
|
UTSW |
17 |
64,596,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R6976:Pja2
|
UTSW |
17 |
64,615,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Pja2
|
UTSW |
17 |
64,616,451 (GRCm39) |
missense |
probably benign |
0.01 |
R7389:Pja2
|
UTSW |
17 |
64,604,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Pja2
|
UTSW |
17 |
64,616,640 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7549:Pja2
|
UTSW |
17 |
64,616,410 (GRCm39) |
missense |
probably damaging |
0.98 |
R8405:Pja2
|
UTSW |
17 |
64,616,505 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8458:Pja2
|
UTSW |
17 |
64,599,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R8700:Pja2
|
UTSW |
17 |
64,599,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9128:Pja2
|
UTSW |
17 |
64,616,470 (GRCm39) |
missense |
probably benign |
|
R9336:Pja2
|
UTSW |
17 |
64,590,432 (GRCm39) |
missense |
unknown |
|
R9356:Pja2
|
UTSW |
17 |
64,618,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Pja2
|
UTSW |
17 |
64,599,868 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pja2
|
UTSW |
17 |
64,599,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |