Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00659:N4bp1'

12749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

N4bp1

Ensembl Gene

ENSMUSG00000031652

Gene Name

NEDD4 binding protein 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00659

Quality Score

Status

Chromosome

Chromosomal Location

87567764-87612489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87588430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 169 (D169E)

Ref Sequence

ENSEMBL: ENSMUSP00000034074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034074]

AlphaFold

Q6A037

Predicted Effect

probably damaging
Transcript: ENSMUST00000034074
AA Change: D169E

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

SMART Domains

Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: D169E

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
low complexity region	375	390	N/A	INTRINSIC
low complexity region	548	571	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	614	767	4.7e-59	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,905,221 (GRCm39)	V964A	probably benign	Het
Birc6	T	A	17: 74,967,648 (GRCm39)	V4197E	probably damaging	Het
C8b	T	A	4: 104,658,531 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 120,039,406 (GRCm39)	D616G	probably damaging	Het
Cfi	A	G	3: 129,630,462 (GRCm39)	K2E	unknown	Het
Chek1	C	A	9: 36,633,895 (GRCm39)		probably null	Het
Chst11	T	G	10: 83,027,639 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,103,169 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,406,852 (GRCm39)	S1049P	probably damaging	Het
Fkbp15	T	C	4: 62,251,917 (GRCm39)		probably benign	Het
Fxr2	C	A	11: 69,531,076 (GRCm39)	Q51K	probably benign	Het
Kpna7	T	A	5: 144,944,056 (GRCm39)	I50F	probably damaging	Het
Mdm2	T	C	10: 117,538,204 (GRCm39)	R65G	possibly damaging	Het
Nlrp9a	A	G	7: 26,257,050 (GRCm39)	I134V	probably benign	Het
Plrg1	T	A	3: 82,977,980 (GRCm39)	S400T	probably damaging	Het
Polr1b	T	C	2: 128,960,020 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,425,690 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,148,556 (GRCm39)	T1680I	probably damaging	Het
Usp29	A	G	7: 6,965,281 (GRCm39)	N375D	probably benign	Het
Wrn	A	G	8: 33,812,405 (GRCm39)		probably benign	Het
Zfp422	G	A	6: 116,603,466 (GRCm39)	Q178*	probably null	Het
Zfp938	T	A	10: 82,063,355 (GRCm39)		probably benign	Het

Other mutations in N4bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:N4bp1	APN	8	87,588,354 (GRCm39)	missense	probably benign	0.01
IGL01484:N4bp1	APN	8	87,571,400 (GRCm39)	missense	probably damaging	0.99
IGL01788:N4bp1	APN	8	87,587,624 (GRCm39)	missense	probably benign	0.06
IGL01989:N4bp1	APN	8	87,575,115 (GRCm39)	missense	probably damaging	1.00
IGL02619:N4bp1	APN	8	87,587,529 (GRCm39)	missense	probably benign	0.01
IGL03290:N4bp1	APN	8	87,575,161 (GRCm39)	missense	probably benign	0.31
Acorn	UTSW	8	87,588,534 (GRCm39)	nonsense	probably null
oak	UTSW	8	87,588,424 (GRCm39)	nonsense	probably null
Squirrel	UTSW	8	87,578,337 (GRCm39)	missense	probably damaging	1.00
Stash	UTSW	8	87,587,052 (GRCm39)	critical splice donor site	probably null
walnut	UTSW	8	87,573,540 (GRCm39)	missense	probably damaging	1.00
winter	UTSW	8	87,588,311 (GRCm39)	missense	probably benign
R0760:N4bp1	UTSW	8	87,573,540 (GRCm39)	missense	probably damaging	1.00
R1202:N4bp1	UTSW	8	87,571,515 (GRCm39)	missense	probably benign	0.02
R1653:N4bp1	UTSW	8	87,571,576 (GRCm39)	missense	probably benign	0.10
R1878:N4bp1	UTSW	8	87,588,169 (GRCm39)	missense	probably damaging	0.98
R2325:N4bp1	UTSW	8	87,575,088 (GRCm39)	missense	probably damaging	1.00
R2442:N4bp1	UTSW	8	87,588,668 (GRCm39)	missense	probably damaging	1.00
R2867:N4bp1	UTSW	8	87,588,033 (GRCm39)	missense	probably benign	0.02
R2867:N4bp1	UTSW	8	87,588,033 (GRCm39)	missense	probably benign	0.02
R2926:N4bp1	UTSW	8	87,588,424 (GRCm39)	nonsense	probably null
R3625:N4bp1	UTSW	8	87,578,337 (GRCm39)	missense	probably damaging	1.00
R3689:N4bp1	UTSW	8	87,587,184 (GRCm39)	missense	probably damaging	1.00
R3863:N4bp1	UTSW	8	87,587,055 (GRCm39)	missense	probably benign	0.13
R4872:N4bp1	UTSW	8	87,587,676 (GRCm39)	missense	probably benign	0.01
R4902:N4bp1	UTSW	8	87,588,311 (GRCm39)	missense	probably benign
R4965:N4bp1	UTSW	8	87,578,314 (GRCm39)	missense	possibly damaging	0.69
R5070:N4bp1	UTSW	8	87,587,165 (GRCm39)	missense	probably damaging	0.98
R5392:N4bp1	UTSW	8	87,587,048 (GRCm39)	splice site	probably null
R5719:N4bp1	UTSW	8	87,578,312 (GRCm39)	missense	probably damaging	1.00
R6280:N4bp1	UTSW	8	87,579,794 (GRCm39)	missense	possibly damaging	0.68
R6292:N4bp1	UTSW	8	87,579,867 (GRCm39)	missense	probably damaging	0.99
R6350:N4bp1	UTSW	8	87,588,596 (GRCm39)	missense	probably damaging	0.99
R6543:N4bp1	UTSW	8	87,588,534 (GRCm39)	nonsense	probably null
R6965:N4bp1	UTSW	8	87,571,461 (GRCm39)	missense	probably damaging	1.00
R7120:N4bp1	UTSW	8	87,587,495 (GRCm39)	missense	probably benign	0.01
R7172:N4bp1	UTSW	8	87,587,052 (GRCm39)	critical splice donor site	probably null
R7791:N4bp1	UTSW	8	87,579,831 (GRCm39)	missense	probably damaging	0.99
R8084:N4bp1	UTSW	8	87,587,636 (GRCm39)	missense	probably benign	0.28
R8220:N4bp1	UTSW	8	87,571,315 (GRCm39)	makesense	probably null
R8523:N4bp1	UTSW	8	87,579,789 (GRCm39)	missense	probably damaging	1.00
R8753:N4bp1	UTSW	8	87,575,085 (GRCm39)	missense	probably damaging	1.00
R9445:N4bp1	UTSW	8	87,587,238 (GRCm39)	nonsense	probably null
R9464:N4bp1	UTSW	8	87,587,165 (GRCm39)	missense	probably damaging	0.98
X0067:N4bp1	UTSW	8	87,588,548 (GRCm39)	missense	probably damaging	1.00
Z1177:N4bp1	UTSW	8	87,579,787 (GRCm39)	nonsense	probably null

Posted On

2012-12-06