Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:N4bp3'

525235

Institutional Source

Beutler Lab

Gene Symbol

N4bp3

Ensembl Gene

ENSMUSG00000001053

Gene Name

NEDD4 binding protein 3

Synonyms

C330016O10Rik

MMRRC Submission

044754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6632 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

51533908-51541664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51534776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 429 (E429G)

Ref Sequence

ENSEMBL: ENSMUSP00000001080 (fasta)

Gene Model

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

AlphaFold

Q8C7U1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001080
AA Change: E429G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: E429G

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 benign
Transcript: ENSMUST00000142721

Predicted Effect

probably benign
Transcript: ENSMUST00000156835

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,429,186 (GRCm39)	S758P	possibly damaging	Het
Abca3	C	G	17: 24,603,444 (GRCm39)	D545E	probably benign	Het
Akap9	T	A	5: 4,063,842 (GRCm39)		probably null	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arpp21	G	A	9: 111,956,424 (GRCm39)	Q518*	probably null	Het
Atp9b	G	A	18: 80,851,864 (GRCm39)	R410W	probably damaging	Het
Cacna2d3	T	C	14: 28,627,222 (GRCm39)	*265W	probably null	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cep164	T	C	9: 45,691,088 (GRCm39)	K1231E	possibly damaging	Het
Cnot1	A	G	8: 96,499,895 (GRCm39)		probably benign	Het
Cpne2	T	C	8: 95,281,583 (GRCm39)	V206A	probably benign	Het
Dchs1	A	G	7: 105,411,085 (GRCm39)	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,156,088 (GRCm39)	T590A	probably benign	Het
Eif4g1	A	T	16: 20,504,270 (GRCm39)	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,364,849 (GRCm39)	K639N	probably damaging	Het
Gcc2	A	G	10: 58,105,871 (GRCm39)		probably null	Het
Gm35315	A	C	5: 110,227,129 (GRCm39)	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,312,169 (GRCm39)	K578R	possibly damaging	Het
Ice2	T	C	9: 69,335,734 (GRCm39)	S906P	probably benign	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,615,454 (GRCm39)	W3650R	probably benign	Het
Mcoln3	C	T	3: 145,833,942 (GRCm39)	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,035,567 (GRCm39)	M368K	probably damaging	Het
Msh2	A	C	17: 88,020,094 (GRCm39)	K567Q	possibly damaging	Het
Nrxn3	G	A	12: 89,159,924 (GRCm39)	A17T	probably damaging	Het
Or2aj6	T	C	16: 19,443,773 (GRCm39)	T26A	probably benign	Het
Or5b106	T	A	19: 13,123,552 (GRCm39)	Y157F	probably benign	Het
P4ha2	G	T	11: 54,008,474 (GRCm39)	R227L	probably benign	Het
Pfkfb4	G	A	9: 108,838,630 (GRCm39)		probably null	Het
Ror1	A	G	4: 100,299,303 (GRCm39)	N892S	probably benign	Het
Scn9a	G	T	2: 66,313,846 (GRCm39)	D1957E	probably benign	Het
Sec24a	A	T	11: 51,604,476 (GRCm39)	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,271,438 (GRCm39)	F70I	probably damaging	Het
Setdb1	T	C	3: 95,231,460 (GRCm39)	Y1284C	probably damaging	Het
Suco	A	T	1: 161,655,809 (GRCm39)	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,165,667 (GRCm39)		probably null	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
R3237: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
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'- TGTCCATGTAGCTCCCTTGG -3'
(R):5'- TGTTGAAACAGCAGCTCCG -3'

Sequencing Primer
(F):5'- CCCTTGGATTTCTCGCTGGTAG -3'
(R):5'- AACAGCAGCTCCGGGAAGC -3'

Posted On

2018-06-22