Incidental Mutation 'R2436:Nploc4'
| ID |
249597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nploc4
|
| Ensembl Gene |
ENSMUSG00000039703 |
| Gene Name |
NPL4 homolog, ubiquitin recognition factor |
| Synonyms |
|
| MMRRC Submission |
040397-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2436 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120271196-120328534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120309143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 153
(N153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044271]
[ENSMUST00000103017]
|
| AlphaFold |
P60670 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044271
AA Change: N153S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: N153S
| 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 |
possibly damaging
Transcript: ENSMUST00000103017
AA Change: N153S
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: N153S
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,582,308 (GRCm39) |
S277P |
possibly damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,662 (GRCm39) |
S52P |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,824,383 (GRCm39) |
H2R |
probably damaging |
Het |
| Calhm3 |
T |
C |
19: 47,140,404 (GRCm39) |
T230A |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,868,117 (GRCm39) |
V844M |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,126,156 (GRCm39) |
R1327Q |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,923,549 (GRCm39) |
I427V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,039,524 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,921,496 (GRCm39) |
I393N |
possibly damaging |
Het |
| Foxq1 |
A |
T |
13: 31,742,516 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,566 (GRCm39) |
T646A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,745,706 (GRCm39) |
E324K |
possibly damaging |
Het |
| Krt80 |
A |
G |
15: 101,257,384 (GRCm39) |
F183L |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,354 (GRCm39) |
K647* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,325,891 (GRCm39) |
Y1067C |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,104,097 (GRCm39) |
Q921H |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,862,029 (GRCm39) |
F200S |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,591 (GRCm39) |
F209L |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,952 (GRCm39) |
C142R |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,117 (GRCm39) |
V114A |
probably benign |
Het |
| Or5k1 |
C |
T |
16: 58,617,607 (GRCm39) |
V201I |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,782,943 (GRCm39) |
L86F |
probably damaging |
Het |
| Polr3h |
G |
T |
15: 81,801,406 (GRCm39) |
L157I |
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,336,376 (GRCm39) |
V1525M |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,996,079 (GRCm39) |
D561E |
possibly damaging |
Het |
| Sacs |
A |
T |
14: 61,440,354 (GRCm39) |
D800V |
possibly damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,655 (GRCm39) |
L223F |
possibly damaging |
Het |
| Slc16a9 |
TCCCC |
TCCCCC |
10: 70,091,911 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
G |
T |
5: 135,864,030 (GRCm39) |
E43* |
probably null |
Het |
| Tcaf3 |
G |
A |
6: 42,570,663 (GRCm39) |
A363V |
probably damaging |
Het |
| Tmem138 |
A |
G |
19: 10,552,268 (GRCm39) |
F78S |
probably damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,676 (GRCm39) |
D138N |
probably damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,986,568 (GRCm39) |
V1344I |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,266,842 (GRCm39) |
L1875* |
probably null |
Het |
| Vmn2r109 |
C |
A |
17: 20,774,798 (GRCm39) |
G186C |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,373 (GRCm39) |
N137D |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTACTGCAAGGCTTCAC -3'
(R):5'- GACTTTGCAGTCTTCTTAGAGC -3'
Sequencing Primer
(F):5'- GTACTGCAAGGCTTCACTTTTC -3'
(R):5'- ACTTTGCAGTCTTCTTAGAGCTTTAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation