Mutagenetix > Incidental Mutation

Incidental Mutation 'R4949:N4bp2'

383659

Institutional Source

Beutler Lab

Gene Symbol

N4bp2

Ensembl Gene

ENSMUSG00000037795

Gene Name

NEDD4 binding protein 2

Synonyms

LOC333789, B3bp, LOC386488

MMRRC Submission

042546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R4949 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65920864-65987451 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 65979142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087264] [ENSMUST00000087264] [ENSMUST00000087264] [ENSMUST00000087264] [ENSMUST00000201489] [ENSMUST00000201489] [ENSMUST00000201489] [ENSMUST00000201489] [ENSMUST00000201615]

AlphaFold

F8VQG7

Predicted Effect

probably null
Transcript: ENSMUST00000087264

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1.1e-15	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087264

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1.1e-15	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087264

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1.1e-15	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087264

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1.1e-15	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113738

SMART Domains

Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201044

Predicted Effect

probably null
Transcript: ENSMUST00000201489

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000201489

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000201489

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000201489

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	1e-9	BLAST
low complexity region	1496	1511	N/A	INTRINSIC
DUF1771	1526	1591	1.88e-21	SMART
SMR	1596	1678	1.09e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201615

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795

Domain	Start	End	E-Value	Type
low complexity region	109	130	N/A	INTRINSIC
low complexity region	271	283	N/A	INTRINSIC
Pfam:AAA_33	365	499	1.2e-14	PFAM
low complexity region	533	546	N/A	INTRINSIC
low complexity region	619	629	N/A	INTRINSIC
low complexity region	681	692	N/A	INTRINSIC
low complexity region	847	864	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
Blast:CUE	1430	1472	8e-10	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

All alleles(9) : Targeted, other(2) Gene trapped(7)

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,450 (GRCm39)	V692A	probably benign	Het
Bcl2l13	G	T	6: 120,864,191 (GRCm39)	G382W	probably damaging	Het
Cdhr5	T	A	7: 140,852,557 (GRCm39)	N353I	probably damaging	Het
Chil4	A	G	3: 106,113,408 (GRCm39)	S170P	possibly damaging	Het
Clp1	A	C	2: 84,554,086 (GRCm39)	M361R	possibly damaging	Het
Cylc2	A	G	4: 51,229,804 (GRCm39)	K382R	unknown	Het
Dsg2	T	A	18: 20,723,241 (GRCm39)	D422E	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Gm14295	A	C	2: 176,501,469 (GRCm39)	T320P	probably damaging	Het
Ido2	T	G	8: 25,023,970 (GRCm39)		probably null	Het
Ift140	T	A	17: 25,313,639 (GRCm39)	S1357T	probably benign	Het
Insr	T	G	8: 3,235,059 (GRCm39)	E145A	probably benign	Het
Itpripl1	A	G	2: 126,983,327 (GRCm39)	M265T	probably benign	Het
Kcnb1	G	T	2: 166,947,521 (GRCm39)	N442K	probably damaging	Het
Kifc5b	C	A	17: 27,144,488 (GRCm39)	R536S	probably damaging	Het
Klf6	A	T	13: 5,914,947 (GRCm39)	S129C	probably benign	Het
Lpin2	C	G	17: 71,538,334 (GRCm39)	P327A	probably damaging	Het
Lsm1	T	C	8: 26,292,065 (GRCm39)	V114A	probably benign	Het
Map7d1	C	T	4: 126,128,846 (GRCm39)	W218*	probably null	Het
Nt5el	T	A	13: 105,246,214 (GRCm39)	S258R	probably damaging	Het
Rheb	A	T	5: 25,008,729 (GRCm39)	I163K	possibly damaging	Het
Rph3a	T	C	5: 121,101,897 (GRCm39)	D113G	probably damaging	Het
Scn8a	A	G	15: 100,927,663 (GRCm39)	N1381D	probably damaging	Het
Sdsl	T	A	5: 120,597,870 (GRCm39)	N208Y	possibly damaging	Het
Serpinb9e	A	G	13: 33,435,591 (GRCm39)	N8S	possibly damaging	Het
Sox18	G	A	2: 181,313,017 (GRCm39)	Q100*	probably null	Het
Taar8b	C	T	10: 23,967,825 (GRCm39)	C123Y	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tes	C	A	6: 17,100,359 (GRCm39)	H331N	probably benign	Het
Tmbim1	T	G	1: 74,334,524 (GRCm39)	D12A	probably damaging	Het
Tmprss4	T	C	9: 45,086,841 (GRCm39)	I307V	possibly damaging	Het
Ttll1	A	T	15: 83,386,374 (GRCm39)	M77K	probably null	Het
Ttpal	G	A	2: 163,455,671 (GRCm39)	R220Q	probably damaging	Het
Vmn1r230	T	A	17: 21,067,625 (GRCm39)	H271Q	probably benign	Het
Vmn2r32	A	G	7: 7,467,083 (GRCm39)	I815T	probably benign	Het

Other mutations in N4bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:N4bp2	APN	5	65,964,867 (GRCm39)	missense	probably damaging	0.96
IGL01503:N4bp2	APN	5	65,960,890 (GRCm39)	nonsense	probably null	0.00
IGL01621:N4bp2	APN	5	65,948,267 (GRCm39)	missense	probably damaging	1.00
IGL02109:N4bp2	APN	5	65,955,477 (GRCm39)	missense	probably damaging	1.00
IGL02286:N4bp2	APN	5	65,960,895 (GRCm39)	missense	probably damaging	1.00
1mM(1):N4bp2	UTSW	5	65,965,020 (GRCm39)	missense	probably damaging	1.00
IGL03046:N4bp2	UTSW	5	65,948,303 (GRCm39)	missense	probably damaging	1.00
R0164:N4bp2	UTSW	5	65,960,916 (GRCm39)	splice site	probably benign
R0285:N4bp2	UTSW	5	65,963,902 (GRCm39)	missense	probably benign	0.00
R0366:N4bp2	UTSW	5	65,963,739 (GRCm39)	missense	possibly damaging	0.95
R0548:N4bp2	UTSW	5	65,965,496 (GRCm39)	missense	probably benign	0.39
R0551:N4bp2	UTSW	5	65,977,684 (GRCm39)	splice site	probably null
R0671:N4bp2	UTSW	5	65,964,780 (GRCm39)	missense	probably damaging	0.99
R1136:N4bp2	UTSW	5	65,965,815 (GRCm39)	missense	probably damaging	1.00
R1515:N4bp2	UTSW	5	65,947,841 (GRCm39)	missense	probably benign	0.01
R1597:N4bp2	UTSW	5	65,964,483 (GRCm39)	missense	probably benign	0.45
R1628:N4bp2	UTSW	5	65,960,915 (GRCm39)	splice site	probably null
R1722:N4bp2	UTSW	5	65,964,225 (GRCm39)	missense	probably benign	0.08
R1735:N4bp2	UTSW	5	65,965,659 (GRCm39)	missense	probably damaging	1.00
R1745:N4bp2	UTSW	5	65,948,165 (GRCm39)	missense	probably benign	0.12
R1759:N4bp2	UTSW	5	65,983,956 (GRCm39)	missense	probably damaging	1.00
R1799:N4bp2	UTSW	5	65,964,168 (GRCm39)	missense	possibly damaging	0.62
R1846:N4bp2	UTSW	5	65,965,862 (GRCm39)	missense	probably damaging	1.00
R1872:N4bp2	UTSW	5	65,951,861 (GRCm39)	splice site	probably benign
R2042:N4bp2	UTSW	5	65,983,964 (GRCm39)	missense	probably damaging	1.00
R2082:N4bp2	UTSW	5	65,964,908 (GRCm39)	missense	probably damaging	1.00
R2101:N4bp2	UTSW	5	65,948,224 (GRCm39)	missense	probably damaging	1.00
R2147:N4bp2	UTSW	5	65,966,543 (GRCm39)	missense	probably damaging	1.00
R2251:N4bp2	UTSW	5	65,964,071 (GRCm39)	missense	probably damaging	1.00
R2507:N4bp2	UTSW	5	65,947,404 (GRCm39)	missense	probably benign	0.01
R2508:N4bp2	UTSW	5	65,947,404 (GRCm39)	missense	probably benign	0.01
R2919:N4bp2	UTSW	5	65,964,441 (GRCm39)	missense	probably benign	0.22
R3086:N4bp2	UTSW	5	65,948,396 (GRCm39)	missense	probably damaging	1.00
R4092:N4bp2	UTSW	5	65,947,799 (GRCm39)	missense	probably benign	0.02
R4177:N4bp2	UTSW	5	65,955,513 (GRCm39)	splice site	probably null
R4718:N4bp2	UTSW	5	65,960,806 (GRCm39)	missense	probably damaging	1.00
R4859:N4bp2	UTSW	5	65,982,641 (GRCm39)	missense	probably damaging	1.00
R4863:N4bp2	UTSW	5	65,965,473 (GRCm39)	missense	probably benign	0.22
R4915:N4bp2	UTSW	5	65,960,847 (GRCm39)	missense	probably damaging	1.00
R4978:N4bp2	UTSW	5	65,947,583 (GRCm39)	missense	probably damaging	1.00
R5029:N4bp2	UTSW	5	65,972,123 (GRCm39)	missense	probably damaging	1.00
R5079:N4bp2	UTSW	5	65,969,320 (GRCm39)	missense	probably damaging	1.00
R5097:N4bp2	UTSW	5	65,974,561 (GRCm39)	missense	probably damaging	1.00
R5158:N4bp2	UTSW	5	65,965,805 (GRCm39)	missense	probably damaging	0.99
R5228:N4bp2	UTSW	5	65,964,861 (GRCm39)	missense	probably benign
R5322:N4bp2	UTSW	5	65,947,800 (GRCm39)	missense	possibly damaging	0.76
R5554:N4bp2	UTSW	5	65,965,457 (GRCm39)	missense	probably benign	0.44
R5731:N4bp2	UTSW	5	65,966,500 (GRCm39)	missense	probably damaging	1.00
R5840:N4bp2	UTSW	5	65,965,437 (GRCm39)	missense	probably damaging	0.99
R6393:N4bp2	UTSW	5	65,948,344 (GRCm39)	missense	possibly damaging	0.81
R6767:N4bp2	UTSW	5	65,974,530 (GRCm39)	missense	probably damaging	1.00
R7103:N4bp2	UTSW	5	65,964,189 (GRCm39)	missense	probably benign	0.01
R7112:N4bp2	UTSW	5	65,948,050 (GRCm39)	missense	possibly damaging	0.74
R7171:N4bp2	UTSW	5	65,965,365 (GRCm39)	missense	probably benign	0.00
R7177:N4bp2	UTSW	5	65,964,891 (GRCm39)	missense	probably damaging	1.00
R7240:N4bp2	UTSW	5	65,951,888 (GRCm39)	missense	probably damaging	0.96
R7353:N4bp2	UTSW	5	65,963,714 (GRCm39)	missense	probably benign	0.01
R7450:N4bp2	UTSW	5	65,982,643 (GRCm39)	nonsense	probably null
R7560:N4bp2	UTSW	5	65,948,458 (GRCm39)	missense	probably damaging	0.99
R7698:N4bp2	UTSW	5	65,965,500 (GRCm39)	missense	probably benign	0.00
R7743:N4bp2	UTSW	5	65,965,802 (GRCm39)	missense	probably damaging	1.00
R7871:N4bp2	UTSW	5	65,964,446 (GRCm39)	missense	probably benign	0.00
R7981:N4bp2	UTSW	5	65,969,485 (GRCm39)	missense	probably benign	0.41
R8065:N4bp2	UTSW	5	65,964,639 (GRCm39)	missense	probably damaging	0.99
R8067:N4bp2	UTSW	5	65,964,639 (GRCm39)	missense	probably damaging	0.99
R8164:N4bp2	UTSW	5	65,966,566 (GRCm39)	missense	probably damaging	1.00
R8166:N4bp2	UTSW	5	65,977,655 (GRCm39)	missense	probably benign	0.39
R8331:N4bp2	UTSW	5	65,964,943 (GRCm39)	missense	probably damaging	1.00
R8559:N4bp2	UTSW	5	65,982,628 (GRCm39)	missense	possibly damaging	0.62
R8806:N4bp2	UTSW	5	65,965,551 (GRCm39)	missense	possibly damaging	0.63
R9287:N4bp2	UTSW	5	65,960,855 (GRCm39)	missense	probably benign	0.38
R9369:N4bp2	UTSW	5	65,964,259 (GRCm39)	missense	probably damaging	0.97
R9460:N4bp2	UTSW	5	65,963,886 (GRCm39)	missense	probably benign	0.00
R9462:N4bp2	UTSW	5	65,947,898 (GRCm39)	missense	probably benign	0.02
R9605:N4bp2	UTSW	5	65,963,879 (GRCm39)	missense	probably benign	0.02
R9641:N4bp2	UTSW	5	65,948,035 (GRCm39)	missense	probably benign	0.15
Z1177:N4bp2	UTSW	5	65,964,980 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAAACTGAGAGACCCATGG -3'
(R):5'- TGTCACGAGCACATTCCTACC -3'

Sequencing Primer
(F):5'- AACTGAGAGACCCATGGTTATC -3'
(R):5'- ACGAGCACATTCCTACCTTCTG -3'

Posted On

2016-04-27