Incidental Mutation 'IGL00341:Nip7'
| ID |
6205 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nip7
|
| Ensembl Gene |
ENSMUSG00000031917 |
| Gene Name |
NIP7, nucleolar pre-rRNA processing protein |
| Synonyms |
1110017C15Rik, 6330509M23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107783509-107787563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107783802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 45
(Y45C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034391]
[ENSMUST00000034392]
[ENSMUST00000034393]
[ENSMUST00000095517]
[ENSMUST00000170962]
|
| AlphaFold |
Q9CXK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034391
|
| SMART Domains |
Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034392
AA Change: Y45C
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
95 |
170 |
4.36e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034393
|
| SMART Domains |
Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
43 |
228 |
1.87e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095517
|
| SMART Domains |
Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:Dor1
|
56 |
394 |
7.6e-151 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134772
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170962
AA Change: Y45C
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126153
Gene: ENSMUSG00000031917
AA Change: Y45C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1T5Y|A
|
1 |
133 |
7e-87 |
PDB |
|
Blast:PUA
|
95 |
123 |
5e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212281
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for en ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Nip7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01827:Nip7
|
APN |
8 |
107,783,723 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02543:Nip7
|
APN |
8 |
107,784,825 (GRCm39) |
intron |
probably benign |
|
|
R0471:Nip7
|
UTSW |
8 |
107,783,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Nip7
|
UTSW |
8 |
107,784,007 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1750:Nip7
|
UTSW |
8 |
107,784,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Nip7
|
UTSW |
8 |
107,784,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5121:Nip7
|
UTSW |
8 |
107,783,589 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6306:Nip7
|
UTSW |
8 |
107,785,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Nip7
|
UTSW |
8 |
107,783,916 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7459:Nip7
|
UTSW |
8 |
107,783,968 (GRCm39) |
nonsense |
probably null |
|
|
R7682:Nip7
|
UTSW |
8 |
107,783,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7738:Nip7
|
UTSW |
8 |
107,783,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Nip7
|
UTSW |
8 |
107,784,605 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation