Incidental Mutation 'R6292:N4bp1'
ID |
508504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp1
|
Ensembl Gene |
ENSMUSG00000031652 |
Gene Name |
NEDD4 binding protein 1 |
Synonyms |
|
MMRRC Submission |
044461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6292 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87579867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 645
(E645G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
AlphaFold |
Q6A037 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034074
AA Change: E645G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034074 Gene: ENSMUSG00000031652 AA Change: E645G
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 |
0.2840 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
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 |
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 |
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'- TCAAGTTGTGGCCCATGTG -3'
(R):5'- TGACTAAGCTGCAGGAACGG -3'
Sequencing Primer
(F):5'- GTGCACGATTCTATTCTAAGCAC -3'
(R):5'- GCAGGTCTAACTTGGCAAACTGTAC -3'
|
Posted On |
2018-03-15 |