Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:N4bp3'

646310

Institutional Source

Beutler Lab

Gene Symbol

N4bp3

Ensembl Gene

ENSMUSG00000001053

Gene Name

NEDD4 binding protein 3

Synonyms

C330016O10Rik

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51533908-51541664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51535253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 312 (L312P)

Ref Sequence

ENSEMBL: ENSMUSP00000001080 (fasta)

Gene Model

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

AlphaFold

Q8C7U1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001080
AA Change: L312P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053
AA Change: L312P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	A	16: 90,852,657 (GRCm39)	H160Y	probably benign	Het
Abcc4	T	G	14: 118,864,869 (GRCm39)	I386L	probably benign	Het
Arap2	G	A	5: 62,761,669 (GRCm39)	R1686*	probably null	Het
Arfgef3	A	T	10: 18,465,477 (GRCm39)	I2122N	probably benign	Het
Arhgap44	A	T	11: 64,950,680 (GRCm39)	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,790,747 (GRCm39)		probably null	Het
Bltp1	T	A	3: 37,065,752 (GRCm39)	L9M		Het
Brinp1	A	T	4: 68,716,936 (GRCm39)	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,044,465 (GRCm39)	V349A	probably benign	Het
Ccdc93	T	C	1: 121,405,597 (GRCm39)	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,422,126 (GRCm39)	I534S	probably benign	Het
Cyb5r4	A	T	9: 86,922,486 (GRCm39)	D165V	probably benign	Het
Cygb	G	A	11: 116,540,109 (GRCm39)	T180I	probably benign	Het
Cyp4f15	T	A	17: 32,916,939 (GRCm39)	S285R	probably benign	Het
Daxx	G	T	17: 34,131,590 (GRCm39)	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,185,043 (GRCm39)	E483G	probably damaging	Het
Dennd1a	T	A	2: 37,938,766 (GRCm39)	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,664,796 (GRCm39)	D198G	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Ermard	T	C	17: 15,273,560 (GRCm39)	F382L	probably damaging	Het
Fer1l4	C	A	2: 155,861,680 (GRCm39)	G1879V	probably benign	Het
Focad	T	A	4: 88,150,905 (GRCm39)	H516Q	unknown	Het
Gcsam	T	A	16: 45,436,369 (GRCm39)	W51R	probably damaging	Het
Ikbkb	A	G	8: 23,181,097 (GRCm39)	V122A	probably benign	Het
Iqgap2	A	T	13: 95,798,111 (GRCm39)	S1065T	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Krt24	A	T	11: 99,173,534 (GRCm39)	C262*	probably null	Het
Lrat	T	C	3: 82,810,865 (GRCm39)	E52G	probably damaging	Het
Misp3	T	A	8: 84,737,627 (GRCm39)	H94L	unknown	Het
Naxe	T	C	3: 87,963,994 (GRCm39)	T246A	probably benign	Het
Pcolce2	A	T	9: 95,519,847 (GRCm39)	M1L	probably benign	Het
Slc7a6	G	A	8: 106,919,796 (GRCm39)	A270T	probably damaging	Het
Sord	T	A	2: 122,076,976 (GRCm39)	I27K	probably benign	Het
Srek1ip1	A	G	13: 104,970,798 (GRCm39)	E83G	probably benign	Het
Srgap3	A	C	6: 112,699,779 (GRCm39)	N1090K	probably benign	Het
Sult2a6	A	C	7: 13,987,327 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,223,888 (GRCm39)	I191N	probably damaging	Het
Thoc3	A	G	13: 54,615,708 (GRCm39)	S119P	probably damaging	Het
Tirap	A	G	9: 35,100,052 (GRCm39)	S211P	probably benign	Het
Tle4	T	C	19: 14,429,876 (GRCm39)	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,047,486 (GRCm39)	I126F	probably benign	Het
Txnrd1	A	G	10: 82,710,480 (GRCm39)	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,369,342 (GRCm39)	L77P	probably damaging	Het
Wwc1	G	A	11: 35,758,198 (GRCm39)	T716I	probably damaging	Het
Yod1	A	G	1: 130,645,360 (GRCm39)	K47R	probably benign	Het
Zfhx2	A	T	14: 55,304,201 (GRCm39)	M1261K	probably benign	Het
Zfhx3	T	C	8: 109,583,448 (GRCm39)	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,441,353 (GRCm39)	K436N	probably damaging	Het
Zfp979	T	C	4: 147,697,548 (GRCm39)	H387R	possibly 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
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
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
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'- TGCCTCAGATGGTGTCCTAC -3'
(R):5'- GCATAAGACATTAATGGTGGCTGG -3'

Sequencing Primer
(F):5'- GTGTCCTACCTCCCATCGGG -3'
(R):5'- GCTGGCTATGGGCACAAATG -3'

Posted On

2020-09-02