Incidental Mutation 'R5862:Pja2'
ID |
453986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
MMRRC Submission |
043231-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5862 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
IGL01977:Pja2
|
APN |
17 |
64,604,821 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTTCAACATGGGCTCC -3'
(R):5'- TGACTCAACGTAGGCATCAGC -3'
Sequencing Primer
(F):5'- TGGGCTCCTACATATAATCAAGGGC -3'
(R):5'- GTAGGCATCAGCAGTCCTACCTAG -3'
|
Posted On |
2017-02-10 |