Incidental Mutation 'R6683:Nploc4'
| ID |
527588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nploc4
|
| Ensembl Gene |
ENSMUSG00000039703 |
| Gene Name |
NPL4 homolog, ubiquitin recognition factor |
| Synonyms |
|
| MMRRC Submission |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120271196-120328534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120274156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 546
(S546P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026448]
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
P60670 |
| PDB Structure |
Strctural Model of the p97 N domain- npl4 UBD complex [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026448
|
| SMART Domains |
Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCAA
|
447 |
879 |
1.4e-196 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044271
AA Change: S546P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: S546P
| 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: S514P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: S514P
| 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: ENSMUST00000135635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153015
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,321,604 (GRCm39) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
| Creb3l4 |
T |
A |
3: 90,145,112 (GRCm39) |
T347S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,777,015 (GRCm39) |
V273A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,896 (GRCm39) |
M117T |
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
|
P0041:Nploc4
|
UTSW |
11 |
120,309,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCAGCCACCCATGTCTG -3'
(R):5'- TTTGCAGTGACAGCTTCTGAG -3'
Sequencing Primer
(F):5'- ATGTCTGTCCCTTTGCCCAAG -3'
(R):5'- TATCAGCCTGCTGCTAGA -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation