Incidental Mutation 'R2442:N4bp1'
| ID |
249822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp1
|
| Ensembl Gene |
ENSMUSG00000031652 |
| Gene Name |
NEDD4 binding protein 1 |
| Synonyms |
|
| MMRRC Submission |
040400-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87588668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 90
(I90T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
| AlphaFold |
Q6A037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034074
AA Change: I90T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: I90T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
| Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
| Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
| Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
| Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
| Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
| Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
| Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
| Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
| Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably 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 |
|
IGL01484:N4bp1
|
APN |
8 |
87,571,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCTCGTTGCTCTCAAAG -3'
(R):5'- ACACTCACAGAGTTCAGATCTG -3'
Sequencing Primer
(F):5'- GAGCTTCACAAACTGCTGAATGTG -3'
(R):5'- CTGGGGAACTGGTGAATT -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation