Mutagenetix > Incidental Mutations

Incidental Mutation 'R8065:N4bp2'

619943

Institutional Source

Beutler Lab

Gene Symbol

N4bp2

Ensembl Gene

ENSMUSG00000037795

Gene Name

NEDD4 binding protein 2

Synonyms

B3bp, LOC333789, LOC386488

MMRRC Submission

Accession Numbers

Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65763521-65830108 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65807296 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 896 (L896H)

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000087264
AA Change: L896H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: L896H

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: L896H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: L896H

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: L896H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: L896H

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898	V1D	unknown	Het
Chodl	A	T	16: 78,946,713	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774	T629A	probably benign	Het
Gpr87	T	A	3: 59,179,887	I66F	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260		probably benign	Het
Ibtk	A	C	9: 85,720,863	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344	E633K	probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943		probably null	Het
Naip2	A	T	13: 100,189,222	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398	S468T	probably benign	Het
Ndst3	T	C	3: 123,601,445	N512S	probably damaging	Het
Olfr1138	T	A	2: 87,737,803	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403		probably benign	Het
Plekhn1	T	C	4: 156,228,240	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652	E350G	probably null	Het
Pskh1	T	G	8: 105,929,855	S388A	possibly damaging	Het
Pum1	T	C	4: 130,751,525	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463	M113T	possibly damaging	Het
Ssh2	A	G	11: 77,441,985	R431G	probably damaging	Het
Timm22	G	A	11: 76,414,105	D190N	probably damaging	Het
Ube2g1	G	A	11: 72,677,765	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584	S461P	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
R0551:N4bp2	UTSW	5	65820341	splice site	probably null
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
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
Z1177:N4bp2	UTSW	5	65807637	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTATATCCAGCACACGAGG -3'
(R):5'- AGAGTGAAATCTTTGGGCTTAAACC -3'

Sequencing Primer
(F):5'- AGCACACGAGGCCTACTG -3'
(R):5'- GGCTTAAACCCATCCAATCTTC -3'

Posted On

2020-01-23