Incidental Mutation 'P0041:Nploc4'
| ID |
15522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nploc4
|
| Ensembl Gene |
ENSMUSG00000039703 |
| Gene Name |
NPL4 homolog, ubiquitin recognition factor |
| Synonyms |
|
| MMRRC Submission |
038289-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120271196-120328534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120309157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 148
(D148E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
P60670 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044271
AA Change: D148E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: D148E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UN_NPL4
|
1 |
80 |
1.1e-36 |
PFAM |
|
Pfam:zf-NPL4
|
105 |
245 |
2.1e-64 |
PFAM |
|
Pfam:NPL4
|
248 |
557 |
4.8e-129 |
PFAM |
|
ZnF_RBZ
|
582 |
606 |
8.4e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103017
AA Change: D148E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: D148E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UN_NPL4
|
1 |
80 |
7e-38 |
PFAM |
|
Pfam:zf-NPL4
|
104 |
246 |
1.1e-61 |
PFAM |
|
Pfam:NPL4
|
248 |
455 |
1.8e-87 |
PFAM |
|
Pfam:NPL4
|
451 |
525 |
3e-15 |
PFAM |
|
ZnF_RBZ
|
550 |
574 |
8.4e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136095
|
| Meta Mutation Damage Score |
0.7360 |
| Coding Region Coverage |
- 1x: 86.7%
- 3x: 79.7%
- 10x: 43.1%
- 20x: 3.5%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap1 |
A |
G |
2: 91,499,738 (GRCm39) |
E291G |
probably benign |
Het |
| Atg5 |
A |
C |
10: 44,165,938 (GRCm39) |
E63A |
probably benign |
Het |
| Clec4b2 |
A |
G |
6: 123,158,253 (GRCm39) |
T40A |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,075,434 (GRCm39) |
M447V |
probably benign |
Het |
| Dnai3 |
G |
A |
3: 145,786,997 (GRCm39) |
S346F |
possibly damaging |
Het |
| Enpep |
T |
C |
3: 129,125,847 (GRCm39) |
D95G |
possibly damaging |
Het |
| Epha3 |
C |
A |
16: 63,433,231 (GRCm39) |
E170D |
probably damaging |
Het |
| Gm9900 |
A |
T |
11: 58,220,409 (GRCm39) |
Y63* |
probably null |
Het |
| Gtf2i |
C |
T |
5: 134,273,742 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,517,647 (GRCm39) |
N343I |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,197,599 (GRCm39) |
|
probably benign |
Het |
| Mobp |
G |
A |
9: 119,997,083 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,861,603 (GRCm38) |
H553L |
probably benign |
Het |
| Or1n1 |
T |
C |
2: 36,749,473 (GRCm39) |
K296E |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,696 (GRCm39) |
I406T |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,370,524 (GRCm39) |
M255K |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,873,137 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,949,123 (GRCm39) |
V559A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,875,050 (GRCm39) |
D552G |
probably benign |
Het |
|
| Other mutations in Nploc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Nploc4
|
APN |
11 |
120,280,198 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03373:Nploc4
|
APN |
11 |
120,300,455 (GRCm39) |
nonsense |
probably null |
|
|
R0200:Nploc4
|
UTSW |
11 |
120,304,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Nploc4
|
UTSW |
11 |
120,304,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Nploc4
|
UTSW |
11 |
120,274,115 (GRCm39) |
splice site |
probably benign |
|
|
R1465:Nploc4
|
UTSW |
11 |
120,299,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1465:Nploc4
|
UTSW |
11 |
120,299,607 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1722:Nploc4
|
UTSW |
11 |
120,273,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1919:Nploc4
|
UTSW |
11 |
120,295,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Nploc4
|
UTSW |
11 |
120,309,143 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4603:Nploc4
|
UTSW |
11 |
120,276,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Nploc4
|
UTSW |
11 |
120,312,260 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5179:Nploc4
|
UTSW |
11 |
120,299,682 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5361:Nploc4
|
UTSW |
11 |
120,275,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Nploc4
|
UTSW |
11 |
120,304,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5567:Nploc4
|
UTSW |
11 |
120,275,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Nploc4
|
UTSW |
11 |
120,275,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Nploc4
|
UTSW |
11 |
120,276,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6547:Nploc4
|
UTSW |
11 |
120,319,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6683:Nploc4
|
UTSW |
11 |
120,274,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7134:Nploc4
|
UTSW |
11 |
120,276,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7256:Nploc4
|
UTSW |
11 |
120,319,376 (GRCm39) |
missense |
probably benign |
|
|
R7284:Nploc4
|
UTSW |
11 |
120,307,196 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7386:Nploc4
|
UTSW |
11 |
120,299,707 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8130:Nploc4
|
UTSW |
11 |
120,280,240 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8835:Nploc4
|
UTSW |
11 |
120,309,122 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9031:Nploc4
|
UTSW |
11 |
120,319,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Nploc4
|
UTSW |
11 |
120,304,526 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2012-12-21 |
Incidental Mutation