Incidental Mutation 'IGL02130:N4bp3'
| ID |
281004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
N4bp3
|
| Ensembl Gene |
ENSMUSG00000001053 |
| Gene Name |
NEDD4 binding protein 3 |
| Synonyms |
C330016O10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
51533908-51541664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51534773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 430
(E430G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001080]
[ENSMUST00000142721]
[ENSMUST00000156835]
|
| AlphaFold |
Q8C7U1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001080
AA Change: E430G
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: E430G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
176 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
295 |
334 |
N/A |
INTRINSIC |
|
Pfam:Fez1
|
359 |
442 |
2.3e-21 |
PFAM |
|
Pfam:Fez1
|
433 |
519 |
4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156835
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
| Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
| Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
| Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
| Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
| Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
| Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
| Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
| Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly damaging |
Het |
|
| Other mutations in N4bp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:N4bp3
|
APN |
11 |
51,536,143 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02265:N4bp3
|
APN |
11 |
51,534,645 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02516:N4bp3
|
APN |
11 |
51,535,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1435:N4bp3
|
UTSW |
11 |
51,535,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2270:N4bp3
|
UTSW |
11 |
51,535,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2291:N4bp3
|
UTSW |
11 |
51,536,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:N4bp3
|
UTSW |
11 |
51,536,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3237:N4bp3
|
UTSW |
11 |
51,536,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:N4bp3
|
UTSW |
11 |
51,535,306 (GRCm39) |
splice site |
probably null |
|
|
R5154:N4bp3
|
UTSW |
11 |
51,536,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5839:N4bp3
|
UTSW |
11 |
51,536,909 (GRCm39) |
missense |
probably benign |
|
|
R6632:N4bp3
|
UTSW |
11 |
51,534,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7346:N4bp3
|
UTSW |
11 |
51,536,433 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8369:N4bp3
|
UTSW |
11 |
51,535,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:N4bp3
|
UTSW |
11 |
51,535,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9326:N4bp3
|
UTSW |
11 |
51,535,313 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9595:N4bp3
|
UTSW |
11 |
51,536,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:N4bp3
|
UTSW |
11 |
51,536,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation