Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02048:N4bp2l1'

185010

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

N4bp2l1

Ensembl Gene

ENSMUSG00000041132

Gene Name

NEDD4 binding protein 2-like 1

Synonyms

2410024N18Rik, B230342M21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL02048

Quality Score

Status

Chromosome

Chromosomal Location

150495108-150518288 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 150500103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016279] [ENSMUST00000202031] [ENSMUST00000202279] [ENSMUST00000202291]

AlphaFold

Q3V2Q8

Predicted Effect

probably null
Transcript: ENSMUST00000016279

SMART Domains

Protein: ENSMUSP00000016279
Gene: ENSMUSG00000041132

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
Pfam:AAA_33	42	176	6.1e-19	PFAM
Pfam:AAA_17	42	198	3.2e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000202031

SMART Domains

Protein: ENSMUSP00000144164
Gene: ENSMUSG00000041132

Domain	Start	End	E-Value	Type
SCOP:d1ly1a_	8	71	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202279

SMART Domains

Protein: ENSMUSP00000143792
Gene: ENSMUSG00000041132

Domain	Start	End	E-Value	Type
low complexity region	15	35	N/A	INTRINSIC
SCOP:d1l4ua_	42	58	1e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000202291

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,069,831 (GRCm39)	D1288N	probably damaging	Het
Abcc1	T	C	16: 14,229,383 (GRCm39)	F372L	probably damaging	Het
Adcy2	G	T	13: 69,036,186 (GRCm39)	N158K	possibly damaging	Het
Apba1	A	G	19: 23,915,000 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,130,032 (GRCm39)	E43G	possibly damaging	Het
Bet1	A	T	6: 4,082,456 (GRCm39)		probably null	Het
Blm	A	G	7: 80,152,709 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,681,379 (GRCm39)	I384V	probably benign	Het
Cyp3a13	T	C	5: 137,917,257 (GRCm39)		probably benign	Het
Dlg5	A	T	14: 24,222,271 (GRCm39)	I480N	possibly damaging	Het
Exoc3l4	A	G	12: 111,394,917 (GRCm39)	K538R	probably benign	Het
Flna	G	T	X: 73,272,106 (GRCm39)	T2008K	probably benign	Het
Hc	T	A	2: 34,886,039 (GRCm39)	Q1388L	probably benign	Het
Ifitm1	T	C	7: 140,548,205 (GRCm39)	S13P	probably benign	Het
Il1rapl2	A	G	X: 137,690,398 (GRCm39)	I288V	probably benign	Het
Il31	C	T	5: 123,618,553 (GRCm39)	V157M	possibly damaging	Het
Nell1	T	C	7: 49,869,355 (GRCm39)	I210T	probably damaging	Het
Or52b3	T	C	7: 102,204,090 (GRCm39)	Y200H	probably damaging	Het
Or7e176	T	A	9: 20,171,784 (GRCm39)	I216N	possibly damaging	Het
Phf1	A	G	17: 27,153,515 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,165,411 (GRCm39)	P482S	probably benign	Het
Ppp6r3	T	G	19: 3,523,848 (GRCm39)	M522L	possibly damaging	Het
Qtrt1	T	C	9: 21,328,651 (GRCm39)	L205P	probably damaging	Het
Vmn2r11	T	C	5: 109,202,658 (GRCm39)	I140V	probably benign	Het
Xylt2	C	T	11: 94,557,171 (GRCm39)	E107K	possibly damaging	Het
Zfp512b	A	T	2: 181,231,715 (GRCm39)	F155Y	possibly damaging	Het
Zfyve27	A	G	19: 42,174,296 (GRCm39)	D314G	probably damaging	Het

Other mutations in N4bp2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:N4bp2l1	APN	5	150,517,781 (GRCm39)	missense	possibly damaging	0.46
R0625:N4bp2l1	UTSW	5	150,500,210 (GRCm39)	nonsense	probably null
R0763:N4bp2l1	UTSW	5	150,517,869 (GRCm39)	missense	possibly damaging	0.66
R2372:N4bp2l1	UTSW	5	150,496,246 (GRCm39)	missense	probably damaging	1.00
R5548:N4bp2l1	UTSW	5	150,496,420 (GRCm39)	nonsense	probably null
R7311:N4bp2l1	UTSW	5	150,496,389 (GRCm39)	missense	probably damaging	1.00
R7414:N4bp2l1	UTSW	5	150,499,758 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07