Mutagenetix > Incidental Mutations

Incidental Mutation 'R7171:N4bp2'

558256

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: 0.127) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65763521-65830108 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65808022 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1138 (V1138A)

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087264
AA Change: V1138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: V1138A

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 benign
Transcript: ENSMUST00000201489
AA Change: V1138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: V1138A

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 benign
Transcript: ENSMUST00000201615
AA Change: V1138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: V1138A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,612,977	N154S	unknown	Het
9530053A07Rik	T	A	7: 28,154,519	L1636*	probably null	Het
Ank3	C	T	10: 69,992,481	H2327Y		Het
Ano6	A	G	15: 95,920,291	Y305C	probably damaging	Het
Apc2	A	G	10: 80,315,336	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,623,092	V93A	possibly damaging	Het
Bcas3	T	C	11: 85,583,937	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,505,151	H211N	probably benign	Het
Bptf	G	T	11: 107,131,407	D172E	unknown	Het
Card9	T	G	2: 26,359,484	I22L	possibly damaging	Het
Catsperg1	C	A	7: 29,185,212	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,705,325	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,493,272	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,776,210	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,958,173	L503P	probably benign	Het
Cpn1	T	C	19: 43,974,031	N160D	probably damaging	Het
Ctsh	T	A	9: 90,067,101	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,199,363	T180M	probably damaging	Het
Dapk1	A	T	13: 60,761,785	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,506,648	R76L	probably benign	Het
Dnah7c	T	C	1: 46,680,738	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,480,257	A310S	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Faap24	G	A	7: 35,392,854	Q213*	probably null	Het
Fam181b	G	A	7: 93,080,735	G239S	possibly damaging	Het
Fancm	T	C	12: 65,101,620	W670R	probably damaging	Het
Fmnl1	T	C	11: 103,190,398	Y357H	probably damaging	Het
Fryl	A	T	5: 73,122,310	V215E	probably damaging	Het
Fscn2	C	A	11: 120,362,509	N267K	probably damaging	Het
Fsip2	T	A	2: 82,986,227	Y4101*	probably null	Het
Gcn1l1	G	A	5: 115,590,293	V738I	probably benign	Het
Gdf9	C	T	11: 53,437,539	R441C	probably damaging	Het
Gipc3	C	T	10: 81,341,621	G79E	probably damaging	Het
Gzmf	T	A	14: 56,205,934	I196L	probably benign	Het
Hectd1	A	T	12: 51,759,297	V1852E	probably damaging	Het
Hip1r	A	T	5: 123,995,944	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,020,262	S405P	probably damaging	Het
Il9r	T	A	11: 32,192,671	H294L	probably benign	Het
Kif12	G	A	4: 63,168,694	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,487,906	M1K	probably null	Het
Lamc2	A	T	1: 153,139,749	C613S	probably damaging	Het
Lgr4	T	A	2: 110,000,969	N314K	probably benign	Het
Lpcat2	T	C	8: 92,909,266	I432T	probably benign	Het
Mfhas1	T	C	8: 35,588,992	V207A	probably benign	Het
Msh3	T	G	13: 92,349,298	T173P	probably benign	Het
Mup15	T	A	4: 61,438,268	M87L	probably benign	Het
Noc2l	T	C	4: 156,241,722	V422A	probably benign	Het
Notch3	C	T	17: 32,158,962	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,398,161	K35I	probably benign	Het
Olfr360	T	C	2: 37,068,388	F28L	possibly damaging	Het
Olfr459	T	G	6: 41,772,027	T91P	probably benign	Het
Olfr482	A	G	7: 108,095,135	V145A	probably benign	Het
Olfr692	A	G	7: 105,368,761	H145R	probably benign	Het
Plekhh2	T	A	17: 84,521,788	V29D	probably damaging	Het
Pof1b	A	G	X: 112,644,345	I544T	probably benign	Het
Rad54l2	C	T	9: 106,713,478	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,676,363	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,814,256	I86N	possibly damaging	Het
Rims1	C	A	1: 22,428,489	R68L		Het
Rnf157	A	G	11: 116,362,373	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,985,941	C452Y	unknown	Het
S100a14	A	T	3: 90,527,762	K27*	probably null	Het
Scai	C	T	2: 39,106,936	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,717,760	I132N	probably benign	Het
Serpinf1	T	A	11: 75,417,985	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,860,986	V801E	probably benign	Het
Slc16a10	C	G	10: 40,037,259	E484D	probably benign	Het
Slc1a5	T	A	7: 16,797,538	D489E	probably damaging	Het
Slx4	C	T	16: 3,990,786	R430H	probably benign	Het
Teddm1b	A	T	1: 153,874,933	I163F	probably damaging	Het
Tmem171	A	T	13: 98,692,236	C135*	probably null	Het
Tmem82	C	T	4: 141,614,973	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,790,955		probably null	Het
Trpm2	A	C	10: 77,924,014	L1096R	probably damaging	Het
Trrap	T	A	5: 144,794,049	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,842,984	D521G	probably benign	Het
Usp7	T	C	16: 8,716,526	D59G	probably benign	Het
Vcan	G	A	13: 89,725,591	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,933,334	L218P	probably damaging	Het
Wdr25	A	T	12: 109,024,996	T370S	probably damaging	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	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- ATTAGCCACAGAGGAACCTCAG -3'
(R):5'- CTTTACTTCCAAAGAGCCAGTAAG -3'

Sequencing Primer
(F):5'- TCCTGGAATTGGTATCCG -3'
(R):5'- AAAGAGCCAGTAAGATAAACATCTTC -3'

Posted On

2019-06-26