Mutagenetix > Incidental Mutations

Incidental Mutation 'R6393:N4bp2'

515865

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: 0.176) question?

Stock #

R6393 (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 65791001 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 325 (S325P)

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087264
AA Change: S325P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: S325P

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

possibly damaging
Transcript: ENSMUST00000201489
AA Change: S325P

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: S325P

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

possibly damaging
Transcript: ENSMUST00000201615
AA Change: S325P

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: S325P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202934

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,382	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,635	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,808		probably null	Het
Akirin1	T	G	4: 123,743,531	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,929,757	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,463,672	I804V	probably damaging	Het
Arhgef28	A	T	13: 97,994,019	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 59,773,755	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586	L200S	probably damaging	Het
Ccdc80	T	A	16: 45,096,465	V528D	possibly damaging	Het
Chd6	A	G	2: 160,979,487	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,325,081	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,846,320	F207L	probably damaging	Het
Col12a1	T	C	9: 79,655,485	T1772A	probably damaging	Het
Cubn	T	C	2: 13,355,680	T1744A	probably benign	Het
Dchs2	A	G	3: 83,129,911	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,205,662	E6V	possibly damaging	Het
Dock5	G	A	14: 67,822,602	P463S	probably benign	Het
Fancd2	T	A	6: 113,578,413	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,448,327	G449E	probably damaging	Het
Frem2	G	T	3: 53,585,640	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,473,039	V187L	possibly damaging	Het
Gm8994	A	G	6: 136,328,598	K19R	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,930,826		probably null	Het
Htr1b	T	A	9: 81,631,757	I266F	probably benign	Het
Jakmip3	T	C	7: 139,019,171	I305T	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kifc5b	T	C	17: 26,921,842	C97R	probably benign	Het
Klhl30	A	T	1: 91,361,190	H557L	probably damaging	Het
Lama3	T	C	18: 12,479,756	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,254,294	L246P	probably damaging	Het
M6pr	T	C	6: 122,315,380	L178P	possibly damaging	Het
Med17	A	G	9: 15,274,583	S212P	probably damaging	Het
Med23	T	A	10: 24,873,476	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,137,776	T341P	probably damaging	Het
Mre11a	A	G	9: 14,785,509	M1V	probably null	Het
Mrpl17	T	C	7: 105,809,915	H158R	probably benign	Het
Mstn	A	G	1: 53,066,489	Q330R	probably benign	Het
Muc16	T	A	9: 18,647,399	K2533*	probably null	Het
Nadk	A	G	4: 155,589,351	Y399C	possibly damaging	Het
Nbea	A	C	3: 56,091,119	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,278,181	F775L	probably benign	Het
Ndufa11	C	A	17: 56,721,331	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851	Y175C	possibly damaging	Het
Olfr1121	A	G	2: 87,371,565	N11S	probably damaging	Het
Olfr1419	A	T	19: 11,870,727	L163Q	probably damaging	Het
Pcsk6	T	C	7: 65,969,014	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,447,596	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,437,298	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Rbm46	G	A	3: 82,863,955	T451M	probably benign	Het
Rcan2	T	A	17: 43,953,479	V10D	probably benign	Het
Rpl7l1	T	C	17: 46,782,622	E4G	probably benign	Het
Rptn	A	G	3: 93,397,199	E613G	probably benign	Het
Sbk2	T	C	7: 4,957,622	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,616,886	A162T	probably benign	Het
Slc30a4	A	G	2: 122,686,046	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,309,813	F361L	probably benign	Het
Slc6a13	T	C	6: 121,336,842	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 73,049,914	K508N	possibly damaging	Het
Stard4	T	C	18: 33,205,225	D144G	probably benign	Het
Tlr9	T	C	9: 106,224,937	F476L	probably damaging	Het
Tshz1	A	T	18: 84,013,220	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,269,322	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,316,153	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,948,700	L34P	probably damaging	Het
Xpo4	A	G	14: 57,638,313	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,984,866	H268L	probably null	Het
Zfp865	T	C	7: 5,030,066	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,900,901	I472V	possibly 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
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
R7954:N4bp2	UTSW	5	65807103	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATTACTGCCCGGTGCTCAC -3'
(R):5'- CAATCCGTGCACTATACCTTCTAAC -3'

Sequencing Primer
(F):5'- GGTGCTCACCCCTCTTCC -3'
(R):5'- CGTGCACTATACCTTCTAACAAATG -3'

Posted On

2018-05-04