Incidental Mutation 'IGL01688:Nepro'
| ID |
104026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nepro
|
| Ensembl Gene |
ENSMUSG00000036208 |
| Gene Name |
nucleolus and neural progenitor protein |
| Synonyms |
BC027231 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44544664-44557647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44556369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 509
(L509P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023348]
[ENSMUST00000048788]
[ENSMUST00000123673]
[ENSMUST00000147804]
[ENSMUST00000161436]
[ENSMUST00000162512]
|
| AlphaFold |
Q8R2U2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023348
|
| SMART Domains |
Protein: ENSMUSP00000023348
Gene: ENSMUSG00000022668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRPRB
|
42 |
164 |
4.1e-7 |
PFAM |
|
Pfam:GTP_EFTU
|
42 |
214 |
3.4e-9 |
PFAM |
|
Pfam:FeoB_N
|
45 |
208 |
5.9e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
161 |
5e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048788
AA Change: L509P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038779
Gene: ENSMUSG00000036208
AA Change: L509P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4477
|
12 |
202 |
3.2e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132610
|
| SMART Domains |
Protein: ENSMUSP00000116115
Gene: ENSMUSG00000036208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4477
|
1 |
118 |
7.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161436
|
| SMART Domains |
Protein: ENSMUSP00000123974
Gene: ENSMUSG00000022668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
65 |
230 |
5.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162512
|
| SMART Domains |
Protein: ENSMUSP00000125352
Gene: ENSMUSG00000022668
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRPRB
|
109 |
250 |
1.8e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
113 |
228 |
1.1e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to implantation with a failure to form a blastocyst. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
| Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
| Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
| Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
| Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
| Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
| Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
| Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
| Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
| Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
| Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
| Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
| Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
| Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
| Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
| Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
| Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
| Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
| Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
Het |
|
| Other mutations in Nepro |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Nepro
|
APN |
16 |
44,549,668 (GRCm39) |
nonsense |
probably null |
|
|
IGL03149:Nepro
|
APN |
16 |
44,547,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Nepro
|
UTSW |
16 |
44,552,509 (GRCm39) |
unclassified |
probably benign |
|
|
R0839:Nepro
|
UTSW |
16 |
44,556,382 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1619:Nepro
|
UTSW |
16 |
44,547,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1777:Nepro
|
UTSW |
16 |
44,556,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4273:Nepro
|
UTSW |
16 |
44,556,192 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4487:Nepro
|
UTSW |
16 |
44,556,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Nepro
|
UTSW |
16 |
44,550,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Nepro
|
UTSW |
16 |
44,555,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R4842:Nepro
|
UTSW |
16 |
44,555,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R4869:Nepro
|
UTSW |
16 |
44,550,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Nepro
|
UTSW |
16 |
44,555,156 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4988:Nepro
|
UTSW |
16 |
44,554,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6480:Nepro
|
UTSW |
16 |
44,547,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Nepro
|
UTSW |
16 |
44,551,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7149:Nepro
|
UTSW |
16 |
44,550,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8024:Nepro
|
UTSW |
16 |
44,551,778 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9256:Nepro
|
UTSW |
16 |
44,544,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Nepro
|
UTSW |
16 |
44,552,460 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9607:Nepro
|
UTSW |
16 |
44,551,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Nepro
|
UTSW |
16 |
44,554,949 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0067:Nepro
|
UTSW |
16 |
44,555,066 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2014-01-21 |
Incidental Mutation