Incidental Mutation 'IGL03022:N4bp2l2'
ID |
408025 |
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 # |
IGL03022
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
150531472-150589648 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 150566761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 516
(S516P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118316]
[ENSMUST00000156180]
|
AlphaFold |
Q8JZS6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118316
AA Change: S516P
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113895 Gene: ENSMUSG00000029655 AA Change: S516P
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 |
silent
Transcript: ENSMUST00000156180
|
SMART Domains |
Protein: ENSMUSP00000118475 Gene: ENSMUSG00000029655
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
Zfp84 |
T |
C |
7: 29,474,759 (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 |
IGL03234:N4bp2l2
|
APN |
5 |
150,574,191 (GRCm39) |
nonsense |
probably null |
|
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 |