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

B3bp, LOC333789, LOC386488

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65763521-65830108 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65791115 bp (GRCm38)

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
4932415D10Rik	T	C	10: 82,284,615 (GRCm38)	Y4187C	probably damaging	Het
Acot12	A	G	13: 91,784,391 (GRCm38)	D502G	probably benign	Het
Adrb1	T	C	19: 56,722,688 (GRCm38)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,140 (GRCm38)	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,779,674 (GRCm38)	D446A		Het
AI481877	T	C	4: 59,076,140 (GRCm38)	N601S	possibly damaging	Het
Arhgap42	T	C	9: 9,035,531 (GRCm38)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,459,656 (GRCm38)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,681,359 (GRCm38)		probably benign	Het
Bace1	A	T	9: 45,856,139 (GRCm38)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,952,390 (GRCm38)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,939,964 (GRCm38)	E36K	possibly damaging	Het
Brsk2	A	G	7: 142,000,860 (GRCm38)	E654G	probably benign	Het
Cacna2d3	T	C	14: 29,058,421 (GRCm38)	H661R	probably benign	Het
Cdh4	T	C	2: 179,890,902 (GRCm38)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,289,244 (GRCm38)	P77H	probably damaging	Het
Chd3	A	G	11: 69,356,270 (GRCm38)	V1024A	probably damaging	Het
Chsy1	T	C	7: 66,171,571 (GRCm38)	L518P	probably damaging	Het
Chsy1	T	A	7: 66,171,244 (GRCm38)	M409K	possibly damaging	Het
Cic	G	A	7: 25,272,853 (GRCm38)	V670M	probably damaging	Het
Clock	A	T	5: 76,242,891 (GRCm38)		probably null	Het
Coro1a	C	A	7: 126,703,134 (GRCm38)	V14L	probably damaging	Het
Ctcfl	C	A	2: 173,118,406 (GRCm38)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,169,859 (GRCm38)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,807,214 (GRCm38)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,196,627 (GRCm38)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,942,815 (GRCm38)		probably benign	Het
Dlgap2	T	C	8: 14,822,697 (GRCm38)		probably null	Het
Dnah1	T	C	14: 31,304,983 (GRCm38)	I695V	probably benign	Het
Dst	T	A	1: 34,182,451 (GRCm38)	S2445R	possibly damaging	Het
Elob	T	C	17: 23,824,976 (GRCm38)	D83G	probably benign	Het
Elp4	T	A	2: 105,794,588 (GRCm38)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,623,579 (GRCm38)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,375,773 (GRCm38)	I1385V	probably benign	Het
Fam104a	C	T	11: 113,663,389 (GRCm38)	G160D	probably damaging	Het
Fat3	A	T	9: 15,996,842 (GRCm38)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,538,469 (GRCm38)	A83D	probably benign	Het
Fmo2	A	G	1: 162,888,749 (GRCm38)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,407,553 (GRCm38)	Y269*	probably null	Het
Grik5	T	A	7: 25,058,526 (GRCm38)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,459,062 (GRCm38)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,254,342 (GRCm38)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,457,173 (GRCm38)	S4792G	probably benign	Het
Hps3	T	G	3: 20,030,452 (GRCm38)	I191L	probably benign	Het
Ica1l	T	A	1: 60,010,210 (GRCm38)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331 (GRCm38)		probably null	Het
Ift140	A	G	17: 25,092,341 (GRCm38)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,567,351 (GRCm38)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,530,242 (GRCm38)	T313A	probably benign	Het
Krt6a	T	A	15: 101,690,559 (GRCm38)	I524F	unknown	Het
Lce1d	G	T	3: 92,685,841 (GRCm38)	H88Q	unknown	Het
Lrmda	A	G	14: 22,828,702 (GRCm38)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,452,713 (GRCm38)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,775,757 (GRCm38)	I40L	unknown	Het
Map7d1	A	G	4: 126,236,636 (GRCm38)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,306,073 (GRCm38)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,940,291 (GRCm38)	F35V	probably benign	Het
Mzt2	A	C	16: 15,862,805 (GRCm38)	M40R	possibly damaging	Het
Nfat5	T	A	8: 107,370,589 (GRCm38)	M1532K	probably benign	Het
Notch1	G	A	2: 26,460,165 (GRCm38)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,498,261 (GRCm38)	D89G	probably benign	Het
Nsun4	G	A	4: 116,051,494 (GRCm38)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,155,047 (GRCm38)	S1309P	probably benign	Het
Olfr1100	T	C	2: 86,978,778 (GRCm38)	Y6C	probably benign	Het
Olfr1508	T	C	14: 52,463,394 (GRCm38)	N205S	probably damaging	Het
Olfr561	T	C	7: 102,781,682 (GRCm38)	S69P	probably damaging	Het
Pcsk5	A	G	19: 17,836,972 (GRCm38)	F61L	probably benign	Het
Phrf1	A	T	7: 141,231,225 (GRCm38)		probably null	Het
Pkd1	G	A	17: 24,573,631 (GRCm38)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,480,353 (GRCm38)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,715,643 (GRCm38)	L557P	probably damaging	Het
Poteg	A	G	8: 27,494,960 (GRCm38)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,312,210 (GRCm38)	G192W	probably damaging	Het
Rab13	T	C	3: 90,224,899 (GRCm38)	S178P	probably benign	Het
Ralgds	A	G	2: 28,547,595 (GRCm38)	D571G	probably damaging	Het
Ror2	A	G	13: 53,110,813 (GRCm38)	S748P	probably benign	Het
Sart1	A	T	19: 5,384,877 (GRCm38)	L167Q	probably damaging	Het
Sept12	A	G	16: 4,992,191 (GRCm38)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,679,267 (GRCm38)	S299G	probably benign	Het
Slc35b4	T	A	6: 34,163,361 (GRCm38)	D152V	probably benign	Het
Specc1	T	A	11: 62,128,409 (GRCm38)		probably null	Het
Synj1	G	A	16: 90,940,483 (GRCm38)	T1308I	probably benign	Het
Thap12	T	G	7: 98,710,231 (GRCm38)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,011,142 (GRCm38)	M1501T	possibly damaging	Het
Top2a	G	T	11: 99,000,837 (GRCm38)	N1153K	probably benign	Het
Trpm5	A	G	7: 143,080,986 (GRCm38)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,217,204 (GRCm38)	A849V	possibly damaging	Het
Vmn1r80	A	T	7: 12,193,823 (GRCm38)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 13,131,818 (GRCm38)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,623,907 (GRCm38)	H643L	probably benign	Het
Washc5	G	A	15: 59,366,192 (GRCm38)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,210,126 (GRCm38)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,807,902 (GRCm38)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,168,785 (GRCm38)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,895,992 (GRCm38)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,587,082 (GRCm38)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,749,136 (GRCm38)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,749,271 (GRCm38)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,127,291 (GRCm38)	Q92*	probably null	Het
Zfp64	C	T	2: 168,925,665 (GRCm38)	D676N	probably damaging	Het

Other mutations in N4bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:N4bp2	APN	5	65,807,524 (GRCm38)	missense	probably damaging	0.96
IGL01503:N4bp2	APN	5	65,803,547 (GRCm38)	nonsense	probably null	0.00
IGL01621:N4bp2	APN	5	65,790,924 (GRCm38)	missense	probably damaging	1.00
IGL02109:N4bp2	APN	5	65,798,134 (GRCm38)	missense	probably damaging	1.00
IGL02286:N4bp2	APN	5	65,803,552 (GRCm38)	missense	probably damaging	1.00
1mM(1):N4bp2	UTSW	5	65,807,677 (GRCm38)	missense	probably damaging	1.00
IGL03046:N4bp2	UTSW	5	65,790,960 (GRCm38)	missense	probably damaging	1.00
R0164:N4bp2	UTSW	5	65,803,573 (GRCm38)	splice site	probably benign
R0285:N4bp2	UTSW	5	65,806,559 (GRCm38)	missense	probably benign	0.00
R0366:N4bp2	UTSW	5	65,806,396 (GRCm38)	missense	possibly damaging	0.95
R0548:N4bp2	UTSW	5	65,808,153 (GRCm38)	missense	probably benign	0.39
R0551:N4bp2	UTSW	5	65,820,341 (GRCm38)	splice site	probably null
R0671:N4bp2	UTSW	5	65,807,437 (GRCm38)	missense	probably damaging	0.99
R1136:N4bp2	UTSW	5	65,808,472 (GRCm38)	missense	probably damaging	1.00
R1515:N4bp2	UTSW	5	65,790,498 (GRCm38)	missense	probably benign	0.01
R1597:N4bp2	UTSW	5	65,807,140 (GRCm38)	missense	probably benign	0.45
R1628:N4bp2	UTSW	5	65,803,572 (GRCm38)	splice site	probably null
R1722:N4bp2	UTSW	5	65,806,882 (GRCm38)	missense	probably benign	0.08
R1735:N4bp2	UTSW	5	65,808,316 (GRCm38)	missense	probably damaging	1.00
R1745:N4bp2	UTSW	5	65,790,822 (GRCm38)	missense	probably benign	0.12
R1759:N4bp2	UTSW	5	65,826,613 (GRCm38)	missense	probably damaging	1.00
R1799:N4bp2	UTSW	5	65,806,825 (GRCm38)	missense	possibly damaging	0.62
R1846:N4bp2	UTSW	5	65,808,519 (GRCm38)	missense	probably damaging	1.00
R1872:N4bp2	UTSW	5	65,794,518 (GRCm38)	splice site	probably benign
R2042:N4bp2	UTSW	5	65,826,621 (GRCm38)	missense	probably damaging	1.00
R2082:N4bp2	UTSW	5	65,807,565 (GRCm38)	missense	probably damaging	1.00
R2101:N4bp2	UTSW	5	65,790,881 (GRCm38)	missense	probably damaging	1.00
R2147:N4bp2	UTSW	5	65,809,200 (GRCm38)	missense	probably damaging	1.00
R2251:N4bp2	UTSW	5	65,806,728 (GRCm38)	missense	probably damaging	1.00
R2507:N4bp2	UTSW	5	65,790,061 (GRCm38)	missense	probably benign	0.01
R2508:N4bp2	UTSW	5	65,790,061 (GRCm38)	missense	probably benign	0.01
R2919:N4bp2	UTSW	5	65,807,098 (GRCm38)	missense	probably benign	0.22
R3086:N4bp2	UTSW	5	65,791,053 (GRCm38)	missense	probably damaging	1.00
R4092:N4bp2	UTSW	5	65,790,456 (GRCm38)	missense	probably benign	0.02
R4177:N4bp2	UTSW	5	65,798,170 (GRCm38)	splice site	probably null
R4718:N4bp2	UTSW	5	65,803,463 (GRCm38)	missense	probably damaging	1.00
R4859:N4bp2	UTSW	5	65,825,298 (GRCm38)	missense	probably damaging	1.00
R4863:N4bp2	UTSW	5	65,808,130 (GRCm38)	missense	probably benign	0.22
R4915:N4bp2	UTSW	5	65,803,504 (GRCm38)	missense	probably damaging	1.00
R4949:N4bp2	UTSW	5	65,821,799 (GRCm38)	splice site	probably null
R4978:N4bp2	UTSW	5	65,790,240 (GRCm38)	missense	probably damaging	1.00
R5029:N4bp2	UTSW	5	65,814,780 (GRCm38)	missense	probably damaging	1.00
R5079:N4bp2	UTSW	5	65,811,977 (GRCm38)	missense	probably damaging	1.00
R5097:N4bp2	UTSW	5	65,817,218 (GRCm38)	missense	probably damaging	1.00
R5158:N4bp2	UTSW	5	65,808,462 (GRCm38)	missense	probably damaging	0.99
R5228:N4bp2	UTSW	5	65,807,518 (GRCm38)	missense	probably benign
R5322:N4bp2	UTSW	5	65,790,457 (GRCm38)	missense	possibly damaging	0.76
R5554:N4bp2	UTSW	5	65,808,114 (GRCm38)	missense	probably benign	0.44
R5731:N4bp2	UTSW	5	65,809,157 (GRCm38)	missense	probably damaging	1.00
R5840:N4bp2	UTSW	5	65,808,094 (GRCm38)	missense	probably damaging	0.99
R6393:N4bp2	UTSW	5	65,791,001 (GRCm38)	missense	possibly damaging	0.81
R6767:N4bp2	UTSW	5	65,817,187 (GRCm38)	missense	probably damaging	1.00
R7103:N4bp2	UTSW	5	65,806,846 (GRCm38)	missense	probably benign	0.01
R7112:N4bp2	UTSW	5	65,790,707 (GRCm38)	missense	possibly damaging	0.74
R7171:N4bp2	UTSW	5	65,808,022 (GRCm38)	missense	probably benign	0.00
R7177:N4bp2	UTSW	5	65,807,548 (GRCm38)	missense	probably damaging	1.00
R7240:N4bp2	UTSW	5	65,794,545 (GRCm38)	missense	probably damaging	0.96
R7353:N4bp2	UTSW	5	65,806,371 (GRCm38)	missense	probably benign	0.01
R7450:N4bp2	UTSW	5	65,825,300 (GRCm38)	nonsense	probably null
R7698:N4bp2	UTSW	5	65,808,157 (GRCm38)	missense	probably benign	0.00
R7743:N4bp2	UTSW	5	65,808,459 (GRCm38)	missense	probably damaging	1.00
R7871:N4bp2	UTSW	5	65,807,103 (GRCm38)	missense	probably benign	0.00
R7981:N4bp2	UTSW	5	65,812,142 (GRCm38)	missense	probably benign	0.41
R8065:N4bp2	UTSW	5	65,807,296 (GRCm38)	missense	probably damaging	0.99
R8067:N4bp2	UTSW	5	65,807,296 (GRCm38)	missense	probably damaging	0.99
R8164:N4bp2	UTSW	5	65,809,223 (GRCm38)	missense	probably damaging	1.00
R8166:N4bp2	UTSW	5	65,820,312 (GRCm38)	missense	probably benign	0.39
R8331:N4bp2	UTSW	5	65,807,600 (GRCm38)	missense	probably damaging	1.00
R8559:N4bp2	UTSW	5	65,825,285 (GRCm38)	missense	possibly damaging	0.62
R8806:N4bp2	UTSW	5	65,808,208 (GRCm38)	missense	possibly damaging	0.63
R9287:N4bp2	UTSW	5	65,803,512 (GRCm38)	missense	probably benign	0.38
R9369:N4bp2	UTSW	5	65,806,916 (GRCm38)	missense	probably damaging	0.97
R9460:N4bp2	UTSW	5	65,806,543 (GRCm38)	missense	probably benign	0.00
R9462:N4bp2	UTSW	5	65,790,555 (GRCm38)	missense	probably benign	0.02
R9605:N4bp2	UTSW	5	65,806,536 (GRCm38)	missense	probably benign	0.02
R9641:N4bp2	UTSW	5	65,790,692 (GRCm38)	missense	probably benign	0.15
Z1177:N4bp2	UTSW	5	65,807,637 (GRCm38)	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