Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00653:N4bp1'

12212

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 #

IGL00653

Quality Score

Status

Chromosome

Chromosomal Location

87567764-87612489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87588354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 195 (S195G)

Ref Sequence

ENSEMBL: ENSMUSP00000034074 (fasta)

Gene Model

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

AlphaFold

Q6A037

Predicted Effect

probably benign
Transcript: ENSMUST00000034074
AA Change: S195G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: S195G

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: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	T	C	7: 51,216,261 (GRCm39)	S373P	probably damaging	Het
Ccl8	C	T	11: 82,007,428 (GRCm39)	L88F	probably damaging	Het
Ces2c	A	T	8: 105,576,368 (GRCm39)	Y127F	possibly damaging	Het
Glp1r	T	C	17: 31,149,734 (GRCm39)	S333P	probably damaging	Het
Mycbp2	T	C	14: 103,380,664 (GRCm39)	N3664S	probably damaging	Het
Scaper	A	T	9: 55,767,143 (GRCm39)	N429K	probably damaging	Het
Sparcl1	C	T	5: 104,240,788 (GRCm39)	G212D	probably benign	Het

Other mutations in N4bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:N4bp1	APN	8	87,588,430 (GRCm39)	missense	probably damaging	1.00
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