Mutagenetix > Incidental Mutation

Incidental Mutation 'R4177:N4bp2'

319552

Institutional Source

Beutler Lab

Gene Symbol

N4bp2

Ensembl Gene

ENSMUSG00000037795

Gene Name

NEDD4 binding protein 2

Synonyms

LOC333789, B3bp, LOC386488

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R4177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65920864-65987451 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 65955513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000200843

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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (46/46)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aicda	A	T	6: 122,538,043 (GRCm39)	D67V	probably benign	Het
Arhgap32	A	G	9: 32,158,510 (GRCm39)	R182G	probably null	Het
Bbx	T	C	16: 50,045,221 (GRCm39)	K447E	probably damaging	Het
Bscl2	A	G	19: 8,817,120 (GRCm39)	D16G	possibly damaging	Het
Celsr2	A	G	3: 108,321,294 (GRCm39)	V506A	probably damaging	Het
Cenpf	T	A	1: 189,400,816 (GRCm39)	Q441L	possibly damaging	Het
Crebbp	A	T	16: 3,937,663 (GRCm39)	M700K	possibly damaging	Het
Dhcr7	A	G	7: 143,394,910 (GRCm39)	Y142C	probably damaging	Het
Dnajc2	A	G	5: 21,962,394 (GRCm39)	M602T	probably benign	Het
Dysf	C	T	6: 84,044,013 (GRCm39)	R254*	probably null	Het
Ednra	A	C	8: 78,401,677 (GRCm39)	I204M	possibly damaging	Het
Fabp2	A	G	3: 122,690,547 (GRCm39)	T77A	possibly damaging	Het
Gm10322	C	A	10: 59,452,052 (GRCm39)	N56K	probably benign	Het
Gnb1	T	C	4: 155,625,113 (GRCm39)		probably benign	Het
Gpc2	T	C	5: 138,275,621 (GRCm39)		probably benign	Het
Kmt2a	T	C	9: 44,732,280 (GRCm39)		probably benign	Het
Lypla2	T	C	4: 135,696,403 (GRCm39)		probably benign	Het
Maf	A	T	8: 116,433,210 (GRCm39)	Y131*	probably null	Het
Mfsd4a	T	A	1: 131,968,295 (GRCm39)	H335L	probably damaging	Het
Mrgpra9	A	G	7: 46,885,302 (GRCm39)	Y122H	probably damaging	Het
Myo10	A	T	15: 25,734,137 (GRCm39)	Q342L	possibly damaging	Het
Or5t15	A	T	2: 86,681,745 (GRCm39)	M99K	possibly damaging	Het
Pomt1	A	G	2: 32,138,689 (GRCm39)	N435S	probably damaging	Het
Pram1	A	G	17: 33,860,203 (GRCm39)	I257V	probably benign	Het
Rab9	G	T	X: 165,241,296 (GRCm39)	S5*	probably null	Het
Ralgapa2	A	T	2: 146,327,083 (GRCm39)	Y59N	probably damaging	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Rps6kc1	G	A	1: 190,532,616 (GRCm39)	T462M	possibly damaging	Het
Selenoo	C	T	15: 88,983,662 (GRCm39)		probably benign	Het
Sptb	G	C	12: 76,659,953 (GRCm39)	D982E	probably benign	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubald1	A	G	16: 4,693,745 (GRCm39)		probably benign	Het
Ube2d1	T	C	10: 71,094,033 (GRCm39)	K101R	probably damaging	Het
Unc5cl	A	G	17: 48,769,298 (GRCm39)	T261A	probably benign	Het
Zcwpw1	G	T	5: 137,798,395 (GRCm39)	K197N	probably damaging	Het
Zfp268	T	C	4: 145,347,225 (GRCm39)	L43S	probably damaging	Het
Zfyve19	A	G	2: 119,046,693 (GRCm39)	T296A	possibly damaging	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
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
R4949:N4bp2	UTSW	5	65,979,142 (GRCm39)	splice site	probably null
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'- TTGCTCAGTTCAGCCTGCTG -3'
(R):5'- CTGCCAACTCTTCATAAAACTAAGG -3'

Sequencing Primer
(F):5'- TCAGCCTGCTGACCAGATC -3'
(R):5'- ACGAGTTTAATCCCTGGAGC -3'

Posted On

2015-06-10