Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:N4bp3'

259041

Institutional Source

Beutler Lab

Gene Symbol

N4bp3

Ensembl Gene

ENSMUSG00000001053

Gene Name

NEDD4 binding protein 3

Synonyms

C330016O10Rik

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51643063-51650842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51645934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 104 (F104Y)

Ref Sequence

ENSEMBL: ENSMUSP00000123658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000142721] [ENSMUST00000156835]

AlphaFold

Q8C7U1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001080
AA Change: F104Y

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: F104Y

Domain	Start	End	E-Value	Type
low complexity region	176	207	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
coiled coil region	295	334	N/A	INTRINSIC
Pfam:Fez1	359	442	2.3e-21	PFAM
Pfam:Fez1	433	519	4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142721
AA Change: F104Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000156835
AA Change: F104Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.0977

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,368,170	L255F	probably damaging	Het
9130011E15Rik	A	T	19: 45,975,283		probably benign	Het
Aff2	T	A	X: 69,863,937	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,823,087		probably null	Het
Atm	T	A	9: 53,479,748	D1842V	probably benign	Het
Bcar3	C	A	3: 122,524,996	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,447,995	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,807,653	N268K	unknown	Het
Col6a1	G	A	10: 76,711,320	T737M	unknown	Het
Cyp3a25	T	C	5: 146,003,128		probably benign	Het
Dnah17	T	C	11: 118,094,854	T1466A	probably benign	Het
Dnah9	G	A	11: 65,954,989	T3023I	probably benign	Het
Ecm1	G	T	3: 95,734,846	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,831,097		probably null	Het
Fbxo18	T	C	2: 11,769,826	D36G	probably damaging	Het
Fyb	A	C	15: 6,630,116	D434A	probably damaging	Het
Gm5478	A	G	15: 101,644,303	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,425,700	T155K	probably damaging	Het
Hk1	T	C	10: 62,296,019		probably null	Het
Kdm6b	A	G	11: 69,406,366	Y387H	probably damaging	Het
Lipn	A	G	19: 34,068,738	N37S	probably benign	Het
Lrig3	G	A	10: 125,997,187	C310Y	probably damaging	Het
Map6	T	A	7: 99,336,824	V645E	probably damaging	Het
Memo1	A	T	17: 74,202,352	I224K	probably damaging	Het
Morc2a	T	C	11: 3,683,612	I602T	probably benign	Het
Ndrg3	T	A	2: 156,944,037	I161F	probably damaging	Het
Notch3	T	C	17: 32,158,461	R214G	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr116	T	C	17: 37,624,236	E133G	possibly damaging	Het
Olfr1178	T	C	2: 88,391,406	I53T	probably benign	Het
Pdgfra	T	C	5: 75,167,936	V243A	probably damaging	Het
Piwil4	A	G	9: 14,700,248		probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,445,907	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,291,812	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,408,028	V353I	possibly damaging	Het
Rrh	T	C	3: 129,811,711	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf4	T	A	16: 90,260,217	D82V	unknown	Het
Serhl	C	A	15: 83,104,403	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,338,754	V619A	probably damaging	Het
Sf3b3	A	G	8: 110,812,020	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,639,123	I453V	probably damaging	Het
Slf2	A	G	19: 44,942,334	I617V	probably benign	Het
Snrnp200	T	A	2: 127,221,882	D660E	probably damaging	Het
Spata22	T	A	11: 73,345,887	F340I	probably damaging	Het
Speer4e	T	A	5: 14,934,925	E206D	possibly damaging	Het
Stard6	T	A	18: 70,500,486	M188K	probably damaging	Het
Stat6	G	A	10: 127,652,222	V282I	possibly damaging	Het
Supt20	T	C	3: 54,709,080	S253P	possibly damaging	Het
Szt2	A	C	4: 118,383,034		probably null	Het
Thsd4	C	A	9: 60,394,387	K208N	probably benign	Het
Thsd7b	C	T	1: 130,218,118	Q1588*	probably null	Het
Tmem167	C	T	13: 90,104,380	R52C	probably benign	Het
Ttn	T	C	2: 76,899,409		probably benign	Het
Usp39	G	A	6: 72,338,389		probably benign	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,779,025	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,304	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,613,375	D1597G	probably damaging	Het

Other mutations in N4bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:N4bp3	APN	11	51645316	missense	probably benign	0.28
IGL02130:N4bp3	APN	11	51643946	missense	possibly damaging	0.77
IGL02265:N4bp3	APN	11	51643818	missense	probably benign	0.14
IGL02516:N4bp3	APN	11	51644334	missense	probably benign	0.00
R1435:N4bp3	UTSW	11	51644340	missense	probably damaging	0.97
R2270:N4bp3	UTSW	11	51644305	missense	probably benign	0.00
R2291:N4bp3	UTSW	11	51646103	missense	probably damaging	1.00
R3237:N4bp3	UTSW	11	51645934	missense	probably damaging	1.00
R4695:N4bp3	UTSW	11	51644479	splice site	probably null
R5154:N4bp3	UTSW	11	51645312	missense	probably benign	0.09
R5839:N4bp3	UTSW	11	51646082	missense	probably benign
R6632:N4bp3	UTSW	11	51643949	missense	possibly damaging	0.94
R7346:N4bp3	UTSW	11	51645606	missense	probably benign	0.14
R8369:N4bp3	UTSW	11	51644426	missense	probably damaging	1.00
R8898:N4bp3	UTSW	11	51644429	missense	probably benign	0.00
R9326:N4bp3	UTSW	11	51644486	missense	probably benign	0.03
R9595:N4bp3	UTSW	11	51646105	missense	probably damaging	1.00
R9604:N4bp3	UTSW	11	51645666	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCCTCTGAGAATACAGGG -3'
(R):5'- CTTTTCCCCTGAAGAACTTCGG -3'

Sequencing Primer
(F):5'- CCCTCTGAGAATACAGGGTAGTATC -3'
(R):5'- TGAAGAACTTCGGGCCGC -3'

Posted On

2015-01-23