Mutagenetix > Incidental Mutation

Incidental Mutation 'R9287:N4bp2'

703990

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

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R9287 (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 65803512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 509 (S509T)

Ref Sequence

ENSEMBL: ENSMUSP00000144278 (fasta)

Gene Model

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

AlphaFold

F8VQG7

Predicted Effect

probably benign
Transcript: ENSMUST00000087264
AA Change: S509T

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: S509T

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: S509T

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: S509T

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: S509T

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: S509T

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (109/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,345	D918G	possibly damaging	Het
9430097D07Rik	T	A	2: 32,575,166		probably benign	Het
Aadacl2	C	A	3: 60,025,152	H363N	probably damaging	Het
Ace3	T	G	11: 105,997,420	S319A	probably damaging	Het
Amer3	C	T	1: 34,588,819	P713L	possibly damaging	Het
Aoah	T	C	13: 21,002,709	L453P	probably damaging	Het
Asz1	A	T	6: 18,051,291	L463Q	possibly damaging	Het
Bpifb6	T	A	2: 153,904,615	V143D	probably damaging	Het
C87414	G	A	5: 93,638,110	H104Y	possibly damaging	Het
Cad	T	A	5: 31,072,656	M1499K	possibly damaging	Het
Casp9	T	A	4: 141,807,160	C294S	probably benign	Het
Ccdc7b	T	A	8: 129,163,840	S65T	probably benign	Het
Cdh23	G	A	10: 60,307,527	A3005V	possibly damaging	Het
Cfap54	T	C	10: 92,969,703	Y1515C	possibly damaging	Het
Chrm5	A	C	2: 112,479,265	F502C	probably damaging	Het
Cnst	A	T	1: 179,579,543	T52S	possibly damaging	Het
Cntn6	T	C	6: 104,832,510	I502T	possibly damaging	Het
Col7a1	G	A	9: 108,958,389	V617M	unknown	Het
Ctsb	A	G	14: 63,133,426	D29G	probably benign	Het
Cyp3a44	T	A	5: 145,788,392	Q333L	possibly damaging	Het
Dnajc27	T	C	12: 4,096,256	V95A	possibly damaging	Het
Eea1	T	A	10: 95,995,583	Y179N	probably damaging	Het
Erbb2	T	C	11: 98,435,281	M961T	probably damaging	Het
Fat4	G	A	3: 38,891,632	G1558D	probably damaging	Het
Foxh1	T	C	15: 76,668,926	E196G	probably damaging	Het
Gcc2	T	A	10: 58,269,395	L151*	probably null	Het
Gcdh	C	T	8: 84,889,684	G294D	probably damaging	Het
Gcnt3	A	T	9: 70,034,411	F292I	probably damaging	Het
Glod4	T	C	11: 76,237,684	S131G	probably benign	Het
Gpc2	G	A	5: 138,274,324	L576F	unknown	Het
Gphn	G	A	12: 78,562,872	S330N	possibly damaging	Het
Heatr5a	C	T	12: 51,920,477	C872Y	probably damaging	Het
Hephl1	G	A	9: 15,084,479	S449L	probably benign	Het
Hrasls5	T	A	19: 7,619,326	Y159*	probably null	Het
Hrh2	G	T	13: 54,214,339	M111I	probably benign	Het
Igfn1	A	G	1: 135,997,806	V70A	probably benign	Het
Il2	G	A	3: 37,125,839	T23I	probably damaging	Het
Irak4	A	G	15: 94,563,036	T382A	possibly damaging	Het
Itih2	A	G	2: 10,123,486	S135P	possibly damaging	Het
Kansl3	C	T	1: 36,349,416	D457N	probably damaging	Het
Kcns3	A	G	12: 11,091,600	I366T	probably damaging	Het
Kif26a	C	A	12: 112,179,285	Y1743*	probably null	Het
Lama4	A	T	10: 39,105,964	I1730F	probably damaging	Het
Lax1	T	C	1: 133,680,193	N270S	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp6	A	G	6: 134,506,296	V482A	probably benign	Het
Luzp2	A	G	7: 55,264,360		probably benign	Het
Mc5r	C	A	18: 68,339,129	D186E	probably damaging	Het
Mcph1	A	T	8: 18,607,277		probably null	Het
Mgam	A	G	6: 40,728,971		probably benign	Het
Mmrn1	A	C	6: 60,975,955	T407P	probably damaging	Het
Mrpl1	T	C	5: 96,238,947	V265A	probably benign	Het
Mrpl15	C	T	1: 4,776,633	G240D	probably damaging	Het
Msx1	A	T	5: 37,821,451	M240K	probably damaging	Het
Mtf1	T	C	4: 124,831,141	L337P	probably damaging	Het
Muc5ac	T	A	7: 141,807,889	C1646S	probably damaging	Het
Mvb12a	C	A	8: 71,546,994	T219N	probably damaging	Het
Myo16	G	A	8: 10,476,114	V885M	unknown	Het
Nckap1	A	G	2: 80,553,406	V144A	possibly damaging	Het
Nkx2-6	G	T	14: 69,174,955	G191C	possibly damaging	Het
Nmnat2	T	C	1: 153,086,392	I126T	probably damaging	Het
Nrp2	C	T	1: 62,795,855	R863W	probably damaging	Het
Nup188	C	T	2: 30,336,714	R1168C	probably damaging	Het
Oas3	T	A	5: 120,754,689	D1091V	probably damaging	Het
Olfr911-ps1	C	T	9: 38,523,786	T18I	probably damaging	Het
Optn	T	A	2: 5,031,315	Q452L	probably damaging	Het
Pcca	G	A	14: 122,616,766	V157I	probably benign	Het
Pcdha9	A	G	18: 36,999,228	D450G	probably benign	Het
Pcnx	T	A	12: 81,995,549	S38T	probably benign	Het
Phrf1	C	G	7: 141,260,142	D1083E	probably benign	Het
Plcb4	G	A	2: 135,987,897	A947T	probably benign	Het
Ppp1r3g	G	A	13: 35,968,851	D85N	possibly damaging	Het
Prom2	A	C	2: 127,538,265	V349G	probably damaging	Het
Prrc2c	C	T	1: 162,714,274	S382N	probably benign	Het
Rai14	A	T	15: 10,592,118	N230K	probably benign	Het
Rexo5	A	T	7: 119,802,802	K142I	probably damaging	Het
Rgs22	T	C	15: 36,098,263	H484R	probably damaging	Het
Rims2	C	T	15: 39,679,690	A1440V	probably damaging	Het
Serpinb1a	T	C	13: 32,842,963	E332G	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Slc26a7	C	T	4: 14,516,165	G555S	possibly damaging	Het
Slc4a2	A	T	5: 24,434,125	D386V	probably damaging	Het
Slc6a17	C	T	3: 107,477,235	V350M	probably damaging	Het
Smc2	A	G	4: 52,449,361	Y174C	probably damaging	Het
Smoc2	A	G	17: 14,399,424	Y355C	probably damaging	Het
Smpd1	T	A	7: 105,555,235	V107E	probably benign	Het
Snapc1	T	C	12: 73,971,999		probably benign	Het
Steap4	T	G	5: 7,976,683	F215L	probably benign	Het
Tbc1d1	T	A	5: 64,278,021	S501T	probably damaging	Het
Tec	A	G	5: 72,768,774	Y312H	probably damaging	Het
Ticrr	C	A	7: 79,693,768	T1127K	possibly damaging	Het
Tlk2	A	G	11: 105,256,896	D438G	probably benign	Het
Tln2	C	A	9: 67,370,698	V343L	probably benign	Het
Tmem156	T	A	5: 65,073,805	I241F	probably damaging	Het
Tmtc1	G	T	6: 148,284,892	N559K	probably benign	Het
Trbv4	A	T	6: 41,059,762	I74F	probably benign	Het
Trmt1l	C	T	1: 151,453,148	P524S	probably damaging	Het
Trpa1	A	T	1: 14,885,816	C776*	probably null	Het
Ttc41	T	A	10: 86,763,966	S1043R	probably benign	Het
Ttn	A	G	2: 76,746,302	L24749S	probably damaging	Het
Ube2o	C	T	11: 116,581,116	G100R	probably damaging	Het
Unc5b	T	C	10: 60,773,753	E588G	possibly damaging	Het
Usp43	G	T	11: 67,880,096	Q571K	probably damaging	Het
Vmn1r127	G	A	7: 21,319,002	P287L	possibly damaging	Het
Wasf3	T	A	5: 146,461,047	M208K	possibly damaging	Het
Xab2	A	G	8: 3,613,000	F527S	possibly damaging	Het
Zfp644	T	G	5: 106,637,908	N258H	possibly damaging	Het
Zfp947	A	C	17: 22,145,613	F360C	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	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
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
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'- CCTGTCTCATGAGAAGTGCCAG -3'
(R):5'- GCTGACTTCAGGTGAAACTGATC -3'

Sequencing Primer
(F):5'- TGGCTCTGAGTTCAGTCCCAAG -3'
(R):5'- TTAACCCACCTGTCGTCA -3'

Posted On

2022-03-25