Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:N4bp2'

45158

Institutional Source

Beutler Lab

Gene Symbol

N4bp2

Ensembl Gene

ENSMUSG00000037795

Gene Name

NEDD4 binding protein 2

Synonyms

B3bp, LOC333789, LOC386488

MMRRC Submission

038743-MU

Accession Numbers

Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65763521-65830108 bp(+) (GRCm38)

Type of Mutation

splice site (3057 bp from exon)

DNA Base Change (assembly)

T to A at 65820341 bp (GRCm38)

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
AA Change: Y1527*

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: Y1527*

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
AA Change: Y1527*

SMART Domains

Protein: ENSMUSP00000109367
Gene: ENSMUSG00000037795
AA Change: Y1527*

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
AA Change: Y1527*

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: Y1527*

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

0.9706

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in N4bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:N4bp2	APN	5	65807524	missense	probably damaging	0.96
IGL01503:N4bp2	APN	5	65803547	nonsense	probably null	0.00
IGL01621:N4bp2	APN	5	65790924	missense	probably damaging	1.00
IGL02109:N4bp2	APN	5	65798134	missense	probably damaging	1.00
IGL02286:N4bp2	APN	5	65803552	missense	probably damaging	1.00
1mM(1):N4bp2	UTSW	5	65807677	missense	probably damaging	1.00
IGL03046:N4bp2	UTSW	5	65790960	missense	probably damaging	1.00
R0164:N4bp2	UTSW	5	65803573	splice site	probably benign
R0285:N4bp2	UTSW	5	65806559	missense	probably benign	0.00
R0366:N4bp2	UTSW	5	65806396	missense	possibly damaging	0.95
R0548:N4bp2	UTSW	5	65808153	missense	probably benign	0.39
R0671:N4bp2	UTSW	5	65807437	missense	probably damaging	0.99
R1136:N4bp2	UTSW	5	65808472	missense	probably damaging	1.00
R1515:N4bp2	UTSW	5	65790498	missense	probably benign	0.01
R1597:N4bp2	UTSW	5	65807140	missense	probably benign	0.45
R1628:N4bp2	UTSW	5	65803572	splice site	probably null
R1722:N4bp2	UTSW	5	65806882	missense	probably benign	0.08
R1735:N4bp2	UTSW	5	65808316	missense	probably damaging	1.00
R1745:N4bp2	UTSW	5	65790822	missense	probably benign	0.12
R1759:N4bp2	UTSW	5	65826613	missense	probably damaging	1.00
R1799:N4bp2	UTSW	5	65806825	missense	possibly damaging	0.62
R1846:N4bp2	UTSW	5	65808519	missense	probably damaging	1.00
R1872:N4bp2	UTSW	5	65794518	splice site	probably benign
R2042:N4bp2	UTSW	5	65826621	missense	probably damaging	1.00
R2082:N4bp2	UTSW	5	65807565	missense	probably damaging	1.00
R2101:N4bp2	UTSW	5	65790881	missense	probably damaging	1.00
R2147:N4bp2	UTSW	5	65809200	missense	probably damaging	1.00
R2251:N4bp2	UTSW	5	65806728	missense	probably damaging	1.00
R2507:N4bp2	UTSW	5	65790061	missense	probably benign	0.01
R2508:N4bp2	UTSW	5	65790061	missense	probably benign	0.01
R2919:N4bp2	UTSW	5	65807098	missense	probably benign	0.22
R3086:N4bp2	UTSW	5	65791053	missense	probably damaging	1.00
R4092:N4bp2	UTSW	5	65790456	missense	probably benign	0.02
R4177:N4bp2	UTSW	5	65798170	splice site	probably null
R4718:N4bp2	UTSW	5	65803463	missense	probably damaging	1.00
R4859:N4bp2	UTSW	5	65825298	missense	probably damaging	1.00
R4863:N4bp2	UTSW	5	65808130	missense	probably benign	0.22
R4915:N4bp2	UTSW	5	65803504	missense	probably damaging	1.00
R4949:N4bp2	UTSW	5	65821799	splice site	probably null
R4978:N4bp2	UTSW	5	65790240	missense	probably damaging	1.00
R5029:N4bp2	UTSW	5	65814780	missense	probably damaging	1.00
R5079:N4bp2	UTSW	5	65811977	missense	probably damaging	1.00
R5097:N4bp2	UTSW	5	65817218	missense	probably damaging	1.00
R5158:N4bp2	UTSW	5	65808462	missense	probably damaging	0.99
R5228:N4bp2	UTSW	5	65807518	missense	probably benign
R5322:N4bp2	UTSW	5	65790457	missense	possibly damaging	0.76
R5554:N4bp2	UTSW	5	65808114	missense	probably benign	0.44
R5731:N4bp2	UTSW	5	65809157	missense	probably damaging	1.00
R5840:N4bp2	UTSW	5	65808094	missense	probably damaging	0.99
R6393:N4bp2	UTSW	5	65791001	missense	possibly damaging	0.81
R6767:N4bp2	UTSW	5	65817187	missense	probably damaging	1.00
R7103:N4bp2	UTSW	5	65806846	missense	probably benign	0.01
R7112:N4bp2	UTSW	5	65790707	missense	possibly damaging	0.74
R7171:N4bp2	UTSW	5	65808022	missense	probably benign	0.00
R7177:N4bp2	UTSW	5	65807548	missense	probably damaging	1.00
R7240:N4bp2	UTSW	5	65794545	missense	probably damaging	0.96
R7353:N4bp2	UTSW	5	65806371	missense	probably benign	0.01
R7450:N4bp2	UTSW	5	65825300	nonsense	probably null
R7560:N4bp2	UTSW	5	65791115	missense	probably damaging	0.99
R7698:N4bp2	UTSW	5	65808157	missense	probably benign	0.00
R7743:N4bp2	UTSW	5	65808459	missense	probably damaging	1.00
R7871:N4bp2	UTSW	5	65807103	missense	probably benign	0.00
R7981:N4bp2	UTSW	5	65812142	missense	probably benign	0.41
R8065:N4bp2	UTSW	5	65807296	missense	probably damaging	0.99
R8067:N4bp2	UTSW	5	65807296	missense	probably damaging	0.99
R8164:N4bp2	UTSW	5	65809223	missense	probably damaging	1.00
R8166:N4bp2	UTSW	5	65820312	missense	probably benign	0.39
R8331:N4bp2	UTSW	5	65807600	missense	probably damaging	1.00
R8559:N4bp2	UTSW	5	65825285	missense	possibly damaging	0.62
R8806:N4bp2	UTSW	5	65808208	missense	possibly damaging	0.63
R9287:N4bp2	UTSW	5	65803512	missense	probably benign	0.38
R9369:N4bp2	UTSW	5	65806916	missense	probably damaging	0.97
R9460:N4bp2	UTSW	5	65806543	missense	probably benign	0.00
R9462:N4bp2	UTSW	5	65790555	missense	probably benign	0.02
R9605:N4bp2	UTSW	5	65806536	missense	probably benign	0.02
R9641:N4bp2	UTSW	5	65790692	missense	probably benign	0.15
Z1177:N4bp2	UTSW	5	65807637	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTAACCCAGCTTCTGTGTAGCC -3'
(R):5'- AGCAGCTCAGTGGTAGAGCACTTG -3'

Sequencing Primer
(F):5'- accattctacactgaacacatcc -3'
(R):5'- GGCCTGAAGAACAACTGTATTC -3'

Posted On

2013-06-11