Incidental Mutation 'IGL01484:N4bp1'
| ID |
88854 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
N4bp1
|
| Ensembl Gene |
ENSMUSG00000031652 |
| Gene Name |
NEDD4 binding protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87571400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 866
(E866G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
| AlphaFold |
Q6A037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034074
AA Change: E866G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: E866G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
571 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
614 |
767 |
4.7e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210029
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,579,006 (GRCm39) |
H90R |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,158,685 (GRCm39) |
D88G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,225,884 (GRCm39) |
L760R |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,021,897 (GRCm39) |
E1202G |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,164 (GRCm39) |
H100R |
probably damaging |
Het |
| Hhip |
T |
C |
8: 80,723,412 (GRCm39) |
H414R |
probably damaging |
Het |
| Hk2 |
G |
A |
6: 82,713,711 (GRCm39) |
T457M |
probably damaging |
Het |
| Iapp |
A |
G |
6: 142,249,165 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,626,243 (GRCm39) |
N460D |
probably damaging |
Het |
| Itpa |
T |
C |
2: 130,514,019 (GRCm39) |
F77L |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,452,032 (GRCm39) |
D229G |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,143,442 (GRCm39) |
I5T |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,734,629 (GRCm39) |
V622M |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,222 (GRCm39) |
W197R |
probably benign |
Het |
| Palmd |
G |
A |
3: 116,746,794 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
G |
9: 106,337,848 (GRCm39) |
|
probably null |
Het |
| Pigf |
T |
C |
17: 87,316,308 (GRCm39) |
I157V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,843,191 (GRCm39) |
D204V |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,566,401 (GRCm39) |
D349E |
probably benign |
Het |
| Sarm1 |
A |
T |
11: 78,381,839 (GRCm39) |
C215S |
probably damaging |
Het |
| Serpine1 |
T |
C |
5: 137,092,326 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,520,575 (GRCm39) |
V825A |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,611,673 (GRCm39) |
S2P |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,823,183 (GRCm39) |
S311R |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,169 (GRCm39) |
C139* |
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,010 (GRCm39) |
I695N |
probably damaging |
Het |
| Tmem169 |
T |
C |
1: 72,340,263 (GRCm39) |
V231A |
probably damaging |
Het |
| Ttbk2 |
T |
G |
2: 120,570,314 (GRCm39) |
S1211R |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,851,888 (GRCm39) |
R1855* |
probably null |
Het |
| Urb1 |
A |
T |
16: 90,574,448 (GRCm39) |
S878T |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,749 (GRCm39) |
Y138* |
probably null |
Het |
| Zfp282 |
A |
G |
6: 47,867,054 (GRCm39) |
N214D |
possibly damaging |
Het |
|
| Other mutations in N4bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:N4bp1
|
APN |
8 |
87,588,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00659:N4bp1
|
APN |
8 |
87,588,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:N4bp1
|
APN |
8 |
87,587,624 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01989:N4bp1
|
APN |
8 |
87,575,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:N4bp1
|
APN |
8 |
87,587,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03290:N4bp1
|
APN |
8 |
87,575,161 (GRCm39) |
missense |
probably benign |
0.31 |
|
Acorn
|
UTSW |
8 |
87,588,534 (GRCm39) |
nonsense |
probably null |
|
|
oak
|
UTSW |
8 |
87,588,424 (GRCm39) |
nonsense |
probably null |
|
|
Squirrel
|
UTSW |
8 |
87,578,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stash
|
UTSW |
8 |
87,587,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
walnut
|
UTSW |
8 |
87,573,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
winter
|
UTSW |
8 |
87,588,311 (GRCm39) |
missense |
probably benign |
|
|
R0760:N4bp1
|
UTSW |
8 |
87,573,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:N4bp1
|
UTSW |
8 |
87,571,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1653:N4bp1
|
UTSW |
8 |
87,571,576 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1878:N4bp1
|
UTSW |
8 |
87,588,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2325:N4bp1
|
UTSW |
8 |
87,575,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:N4bp1
|
UTSW |
8 |
87,588,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:N4bp1
|
UTSW |
8 |
87,588,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2867:N4bp1
|
UTSW |
8 |
87,588,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2926:N4bp1
|
UTSW |
8 |
87,588,424 (GRCm39) |
nonsense |
probably null |
|
|
R3625:N4bp1
|
UTSW |
8 |
87,578,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:N4bp1
|
UTSW |
8 |
87,587,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3863:N4bp1
|
UTSW |
8 |
87,587,055 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4872:N4bp1
|
UTSW |
8 |
87,587,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4902:N4bp1
|
UTSW |
8 |
87,588,311 (GRCm39) |
missense |
probably benign |
|
|
R4965:N4bp1
|
UTSW |
8 |
87,578,314 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5070:N4bp1
|
UTSW |
8 |
87,587,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5392:N4bp1
|
UTSW |
8 |
87,587,048 (GRCm39) |
splice site |
probably null |
|
|
R5719:N4bp1
|
UTSW |
8 |
87,578,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:N4bp1
|
UTSW |
8 |
87,579,794 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6292:N4bp1
|
UTSW |
8 |
87,579,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6350:N4bp1
|
UTSW |
8 |
87,588,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:N4bp1
|
UTSW |
8 |
87,588,534 (GRCm39) |
nonsense |
probably null |
|
|
R6965:N4bp1
|
UTSW |
8 |
87,571,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:N4bp1
|
UTSW |
8 |
87,587,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7172:N4bp1
|
UTSW |
8 |
87,587,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7791:N4bp1
|
UTSW |
8 |
87,579,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8084:N4bp1
|
UTSW |
8 |
87,587,636 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8220:N4bp1
|
UTSW |
8 |
87,571,315 (GRCm39) |
makesense |
probably null |
|
|
R8523:N4bp1
|
UTSW |
8 |
87,579,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:N4bp1
|
UTSW |
8 |
87,575,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:N4bp1
|
UTSW |
8 |
87,587,238 (GRCm39) |
nonsense |
probably null |
|
|
R9464:N4bp1
|
UTSW |
8 |
87,587,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:N4bp1
|
UTSW |
8 |
87,588,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:N4bp1
|
UTSW |
8 |
87,579,787 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation