Incidental Mutation 'R3625:N4bp1'
| ID |
269377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp1
|
| Ensembl Gene |
ENSMUSG00000031652 |
| Gene Name |
NEDD4 binding protein 1 |
| Synonyms |
|
| MMRRC Submission |
040679-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3625 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87578337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 676
(L676S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
| AlphaFold |
Q6A037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034074
AA Change: L676S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: L676S
| 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: ENSMUST00000210029
|
| Meta Mutation Damage Score |
0.9381 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
| Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dab2ip |
C |
A |
2: 35,533,903 (GRCm39) |
S43* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
| H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
| Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
| Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
| Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
| Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
| Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
| Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
| Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
| Pogk |
G |
A |
1: 166,231,081 (GRCm39) |
T82I |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,731 (GRCm39) |
S296G |
probably benign |
Het |
| Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
| Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
| Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
| Thy1 |
A |
G |
9: 43,958,028 (GRCm39) |
E52G |
probably damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,177,768 (GRCm39) |
T76A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
| Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
| Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
probably benign |
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 |
|
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 |
|
|
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'- CAGAGTATCTCAGTGGTCTTGG -3'
(R):5'- CTCATCAGTTCATAAGCTGGGC -3'
Sequencing Primer
(F):5'- TAAGCAGTTCCCTTCAGAGTACAG -3'
(R):5'- AGCTGGGCTTGCCTTAGTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation