Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:N4bp2'

585011

Institutional Source

Beutler Lab

Gene Symbol

N4bp2

Ensembl Gene

ENSMUSG00000037795

Gene Name

NEDD4 binding protein 2

Synonyms

LOC333789, B3bp, LOC386488

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

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

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65920864-65987451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65948458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 363 (L363V)

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

AlphaFold

F8VQG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087264
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: L363V

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 damaging
Transcript: ENSMUST00000201489
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: L363V

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 damaging
Transcript: ENSMUST00000201615
AA Change: L363V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: L363V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,745,851 (GRCm39)	D446A		Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	probably 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
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
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
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'- TTTGTAGCCCCTGTGGTGAC -3'
(R):5'- CCTAGTCAAATTAGCTTTCATCCACAG -3'

Sequencing Primer
(F):5'- TGACCACAGCTGCTCACTG -3'
(R):5'- CTACCTTGCCAGAAAGGA -3'

Posted On

2019-10-17