Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:N4bp3'

259106

Institutional Source

Beutler Lab

Gene Symbol

N4bp3

Ensembl Gene

ENSMUSG00000001053

Gene Name

NEDD4 binding protein 3

Synonyms

C330016O10Rik

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51533908-51541664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51536761 bp (GRCm39)

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: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Nsd1	T	A	13: 55,460,701 (GRCm39)	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rpn1	A	G	6: 88,080,396 (GRCm39)	K565R	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scai	C	T	2: 39,040,326 (GRCm39)		probably benign	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	Het

Other mutations in N4bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:N4bp3	APN	11	51,536,143 (GRCm39)	missense	probably benign	0.28
IGL02130:N4bp3	APN	11	51,534,773 (GRCm39)	missense	possibly damaging	0.77
IGL02265:N4bp3	APN	11	51,534,645 (GRCm39)	missense	probably benign	0.14
IGL02516:N4bp3	APN	11	51,535,161 (GRCm39)	missense	probably benign	0.00
R1435:N4bp3	UTSW	11	51,535,167 (GRCm39)	missense	probably damaging	0.97
R2270:N4bp3	UTSW	11	51,535,132 (GRCm39)	missense	probably benign	0.00
R2291:N4bp3	UTSW	11	51,536,930 (GRCm39)	missense	probably damaging	1.00
R3236:N4bp3	UTSW	11	51,536,761 (GRCm39)	missense	probably damaging	1.00
R4695:N4bp3	UTSW	11	51,535,306 (GRCm39)	splice site	probably null
R5154:N4bp3	UTSW	11	51,536,139 (GRCm39)	missense	probably benign	0.09
R5839:N4bp3	UTSW	11	51,536,909 (GRCm39)	missense	probably benign
R6632:N4bp3	UTSW	11	51,534,776 (GRCm39)	missense	possibly damaging	0.94
R7346:N4bp3	UTSW	11	51,536,433 (GRCm39)	missense	probably benign	0.14
R8369:N4bp3	UTSW	11	51,535,253 (GRCm39)	missense	probably damaging	1.00
R8898:N4bp3	UTSW	11	51,535,256 (GRCm39)	missense	probably benign	0.00
R9326:N4bp3	UTSW	11	51,535,313 (GRCm39)	missense	probably benign	0.03
R9595:N4bp3	UTSW	11	51,536,932 (GRCm39)	missense	probably damaging	1.00
R9604:N4bp3	UTSW	11	51,536,493 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATCCCCTCTGAGAATACAGGG -3'
(R):5'- TTTTCCCCTGAAGAACTTCGG -3'

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

Posted On

2015-01-23