Incidental Mutation 'R1653:N4bp1'
ID |
188860 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp1
|
Ensembl Gene |
ENSMUSG00000031652 |
Gene Name |
NEDD4 binding protein 1 |
Synonyms |
|
MMRRC Submission |
039689-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1653 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 87571576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 807
(H807Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
AlphaFold |
Q6A037 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034074
AA Change: H807Q
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034074 Gene: ENSMUSG00000031652 AA Change: H807Q
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
A |
T |
8: 44,103,682 (GRCm39) |
C654* |
probably null |
Het |
Adamts19 |
T |
A |
18: 59,023,365 (GRCm39) |
N253K |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,140,584 (GRCm39) |
L1162S |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,237,657 (GRCm39) |
Y574N |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,777,544 (GRCm39) |
I198V |
probably benign |
Het |
Bcan |
T |
A |
3: 87,901,503 (GRCm39) |
I400F |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,874,620 (GRCm39) |
Y617C |
probably damaging |
Het |
Capn8 |
A |
G |
1: 182,451,516 (GRCm39) |
N578D |
probably benign |
Het |
Casd1 |
T |
C |
6: 4,624,134 (GRCm39) |
L309P |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,449 (GRCm39) |
I204K |
probably benign |
Het |
Cd276 |
T |
C |
9: 58,444,732 (GRCm39) |
T80A |
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,265,700 (GRCm39) |
S248P |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,836 (GRCm39) |
T659A |
possibly damaging |
Het |
Col6a4 |
C |
T |
9: 105,949,608 (GRCm39) |
V676I |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,443,812 (GRCm39) |
V575D |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,841,040 (GRCm39) |
Q1795* |
probably null |
Het |
Gcnt3 |
A |
G |
9: 69,942,359 (GRCm39) |
C70R |
probably damaging |
Het |
Gm12258 |
T |
C |
11: 58,749,113 (GRCm39) |
I96T |
possibly damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,675 (GRCm39) |
F282S |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,052 (GRCm39) |
V381A |
probably benign |
Het |
Irs3 |
C |
A |
5: 137,642,783 (GRCm39) |
L218F |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,530,219 (GRCm39) |
F410S |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,942,785 (GRCm39) |
Y593C |
possibly damaging |
Het |
Lce1h |
T |
A |
3: 92,670,750 (GRCm39) |
Q134L |
unknown |
Het |
Lyst |
T |
C |
13: 13,809,811 (GRCm39) |
S494P |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,967 (GRCm39) |
M42T |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,228,246 (GRCm39) |
I250T |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nfs1 |
C |
T |
2: 155,967,256 (GRCm39) |
G44D |
probably damaging |
Het |
Nrg1 |
C |
T |
8: 32,308,681 (GRCm39) |
R445H |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,420 (GRCm39) |
V267A |
probably benign |
Het |
Or4e5 |
A |
T |
14: 52,728,229 (GRCm39) |
F64Y |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,077 (GRCm39) |
D141V |
possibly damaging |
Het |
Pak5 |
C |
T |
2: 135,958,807 (GRCm39) |
V94M |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,719,339 (GRCm39) |
|
probably null |
Het |
Sin3b |
G |
T |
8: 73,468,147 (GRCm39) |
V290L |
probably benign |
Het |
Sirt1 |
T |
C |
10: 63,157,588 (GRCm39) |
T609A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,347,875 (GRCm39) |
S1289T |
unknown |
Het |
Slc32a1 |
A |
T |
2: 158,456,809 (GRCm39) |
H488L |
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,139,774 (GRCm39) |
S18P |
probably benign |
Het |
Spaca7 |
T |
A |
8: 12,636,501 (GRCm39) |
I109K |
possibly damaging |
Het |
Tmem204 |
A |
G |
17: 25,299,501 (GRCm39) |
L6P |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,991,645 (GRCm39) |
R651C |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Wdcp |
T |
C |
12: 4,901,815 (GRCm39) |
L557P |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,210,042 (GRCm39) |
F140S |
possibly damaging |
Het |
Zfp429 |
C |
T |
13: 67,538,043 (GRCm39) |
R467H |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
Zfp839 |
T |
A |
12: 110,821,684 (GRCm39) |
M166K |
probably benign |
Het |
Zfyve9 |
G |
A |
4: 108,517,774 (GRCm39) |
Q1106* |
probably null |
Het |
Zrsr2-ps1 |
T |
A |
11: 22,924,158 (GRCm39) |
C311S |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCAGCTTTTGCTCAGAGTCAGG -3'
(R):5'- AACGAGTGTGACCAGCCCTAAGAC -3'
Sequencing Primer
(F):5'- GTTCTGCTGCATACTGGGAA -3'
(R):5'- TGTCAAATCCAGGGATGCTC -3'
|
Posted On |
2014-05-09 |