Incidental Mutation 'IGL03373:Nploc4'
| ID |
420391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nploc4
|
| Ensembl Gene |
ENSMUSG00000039703 |
| Gene Name |
NPL4 homolog, ubiquitin recognition factor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120271196-120328534 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 120300455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 326
(R326*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
P60670 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044271
AA Change: R326*
|
| SMART Domains |
Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: R326*
| 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 null
Transcript: ENSMUST00000103017
AA Change: R326*
|
| SMART Domains |
Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: R326*
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,529 (GRCm39) |
S144A |
probably benign |
Het |
| Ndnf |
A |
C |
6: 65,681,272 (GRCm39) |
Y517S |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
| Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,359,715 (GRCm39) |
V318D |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
| Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
| Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,957,634 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
| Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation