Incidental Mutation 'IGL03234:N4bp2l2'
| ID |
414001 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
N4bp2l2
|
| Ensembl Gene |
ENSMUSG00000029655 |
| Gene Name |
NEDD4 binding protein 2-like 2 |
| Synonyms |
zag1, 2700092H06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL03234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
150531472-150589648 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 150574191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 75
(Q75*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118316]
[ENSMUST00000156180]
|
| AlphaFold |
Q8JZS6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000118316
AA Change: Q417*
|
| SMART Domains |
Protein: ENSMUSP00000113895
Gene: ENSMUSG00000029655
AA Change: Q417*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
128 |
139 |
N/A |
INTRINSIC |
|
coiled coil region
|
161 |
194 |
N/A |
INTRINSIC |
|
Pfam:Zeta_toxin
|
380 |
498 |
1.3e-7 |
PFAM |
|
Pfam:AAA_33
|
396 |
530 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145822
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156180
AA Change: Q75*
|
| SMART Domains |
Protein: ENSMUSP00000118475
Gene: ENSMUSG00000029655
AA Change: Q75*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d3aky_1
|
53 |
134 |
1e-5 |
SMART |
|
Blast:AAA
|
61 |
120 |
6e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201384
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa1 |
A |
G |
19: 20,354,965 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,191,845 (GRCm39) |
I466V |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,091,834 (GRCm39) |
K207E |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,973 (GRCm39) |
E574G |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,225,987 (GRCm39) |
F312L |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,115,809 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,087 (GRCm39) |
D673G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,753,610 (GRCm39) |
S670P |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,732,842 (GRCm39) |
P3081S |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,017,509 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,349,135 (GRCm39) |
S1398T |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,111,756 (GRCm39) |
V754A |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,966,521 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
A |
G |
4: 143,521,506 (GRCm39) |
E374G |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,893,833 (GRCm39) |
Y204C |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,717 (GRCm39) |
S114G |
probably benign |
Het |
| Sprtn |
G |
A |
8: 125,629,888 (GRCm39) |
V394M |
possibly damaging |
Het |
| Tars3 |
T |
A |
7: 65,302,026 (GRCm39) |
H183Q |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,343,177 (GRCm39) |
C1147R |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,853,599 (GRCm39) |
R143Q |
probably damaging |
Het |
| Zp1 |
A |
G |
19: 10,892,187 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in N4bp2l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:N4bp2l2
|
APN |
5 |
150,585,401 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03022:N4bp2l2
|
APN |
5 |
150,566,761 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03274:N4bp2l2
|
APN |
5 |
150,584,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0723:N4bp2l2
|
UTSW |
5 |
150,585,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:N4bp2l2
|
UTSW |
5 |
150,585,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1994:N4bp2l2
|
UTSW |
5 |
150,584,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2141:N4bp2l2
|
UTSW |
5 |
150,571,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:N4bp2l2
|
UTSW |
5 |
150,585,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4662:N4bp2l2
|
UTSW |
5 |
150,574,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:N4bp2l2
|
UTSW |
5 |
150,585,516 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4932:N4bp2l2
|
UTSW |
5 |
150,566,606 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5572:N4bp2l2
|
UTSW |
5 |
150,585,755 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7125:N4bp2l2
|
UTSW |
5 |
150,573,894 (GRCm39) |
splice site |
probably null |
|
|
R7552:N4bp2l2
|
UTSW |
5 |
150,585,286 (GRCm39) |
nonsense |
probably null |
|
|
R7806:N4bp2l2
|
UTSW |
5 |
150,566,715 (GRCm39) |
missense |
unknown |
|
|
R8143:N4bp2l2
|
UTSW |
5 |
150,585,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8163:N4bp2l2
|
UTSW |
5 |
150,584,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8502:N4bp2l2
|
UTSW |
5 |
150,585,821 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8936:N4bp2l2
|
UTSW |
5 |
150,585,362 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9104:N4bp2l2
|
UTSW |
5 |
150,566,724 (GRCm39) |
missense |
unknown |
|
|
R9236:N4bp2l2
|
UTSW |
5 |
150,585,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9236:N4bp2l2
|
UTSW |
5 |
150,585,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9633:N4bp2l2
|
UTSW |
5 |
150,585,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9792:N4bp2l2
|
UTSW |
5 |
150,584,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:N4bp2l2
|
UTSW |
5 |
150,585,785 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2016-08-02 |
Incidental Mutation