Incidental Mutation 'IGL03274:N4bp2l2'
| ID |
415343 |
| 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 # |
IGL03274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
150531472-150589648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 150584931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 350
(Q350K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118316]
[ENSMUST00000141857]
[ENSMUST00000156180]
|
| AlphaFold |
Q8JZS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118316
AA Change: Q350K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113895
Gene: ENSMUSG00000029655
AA Change: Q350K
| 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 |
probably benign
Transcript: ENSMUST00000141857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144378
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156180
AA Change: Q8K
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118475
Gene: ENSMUSG00000029655
AA Change: Q8K
| 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: ENSMUST00000201390
|
| 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 |
|---|
| Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
| Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
| Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
| Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
| Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
| Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
| Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
| Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
| Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
| Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
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 |
|
IGL03234:N4bp2l2
|
APN |
5 |
150,574,191 (GRCm39) |
nonsense |
probably null |
|
|
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