Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00493:N4bp2l2'

5491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

N4bp2l2

Ensembl Gene

ENSMUSG00000029655

Gene Name

NEDD4 binding protein 2-like 2

Synonyms

zag1, 2700092H06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL00493

Quality Score

Status

Chromosome

Chromosomal Location

150531472-150589648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150585401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 193 (T193M)

Ref Sequence

ENSEMBL: ENSMUSP00000113895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118316] [ENSMUST00000141857] [ENSMUST00000156180]

AlphaFold

Q8JZS6

Predicted Effect

probably benign
Transcript: ENSMUST00000118316
AA Change: T193M

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113895
Gene: ENSMUSG00000029655
AA Change: T193M

Domain	Start	End	E-Value	Type
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	161	194	N/A	INTRINSIC
Pfam:Zeta_toxin	380	498	1.3e-7	PFAM
Pfam:AAA_33	396	530	5.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144378

Predicted Effect

probably benign
Transcript: ENSMUST00000156180

SMART Domains

Protein: ENSMUSP00000118475
Gene: ENSMUSG00000029655

Domain	Start	End	E-Value	Type
SCOP:d3aky_1	53	134	1e-5	SMART
Blast:AAA	61	120	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201390

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,751,761 (GRCm39)	T509A	probably benign	Het
Arhgap23	T	C	11: 97,337,379 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,427,889 (GRCm39)	I687F	possibly damaging	Het
Atg4d	T	C	9: 21,178,217 (GRCm39)	F112L	probably damaging	Het
Bltp3b	A	C	10: 89,615,846 (GRCm39)	D163A	probably damaging	Het
Cd200	T	A	16: 45,217,409 (GRCm39)	D94V	probably damaging	Het
Cfap46	T	C	7: 139,194,359 (GRCm39)	K2285R	probably benign	Het
Clhc1	T	A	11: 29,521,745 (GRCm39)	I426N	probably damaging	Het
Cnnm2	T	A	19: 46,751,659 (GRCm39)	V483E	probably damaging	Het
Dennd2b	G	A	7: 109,126,915 (GRCm39)	A932V	possibly damaging	Het
Dlc1	A	T	8: 37,037,436 (GRCm39)		probably benign	Het
Fpgs	T	C	2: 32,578,009 (GRCm39)	I138V	possibly damaging	Het
Gpr152	T	C	19: 4,193,506 (GRCm39)	V349A	probably benign	Het
Hk1	C	A	10: 62,122,127 (GRCm39)	E523*	probably null	Het
Ift70a1	C	A	2: 75,812,085 (GRCm39)		probably benign	Het
Krt6a	T	G	15: 101,601,229 (GRCm39)	K241N	probably damaging	Het
Mcm3ap	A	G	10: 76,307,011 (GRCm39)	S375G	probably benign	Het
Meikin	C	T	11: 54,289,320 (GRCm39)	P231L	probably damaging	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Mvk	G	A	5: 114,583,502 (GRCm39)	V14I	probably benign	Het
Myo6	C	T	9: 80,199,754 (GRCm39)	S1021L	probably damaging	Het
Naip5	G	T	13: 100,367,279 (GRCm39)	D272E	probably damaging	Het
Nptn	T	A	9: 58,550,922 (GRCm39)	N316K	probably damaging	Het
Pde6c	T	C	19: 38,151,324 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,327,671 (GRCm39)	I850L	probably damaging	Het
Rdm1	T	G	11: 101,526,580 (GRCm39)	C251G	possibly damaging	Het
Relch	A	G	1: 105,624,324 (GRCm39)		probably benign	Het
Rps6kl1	G	A	12: 85,186,157 (GRCm39)	P291L	probably benign	Het
Sel1l	A	G	12: 91,781,387 (GRCm39)		probably benign	Het
Serpinb1b	T	C	13: 33,277,850 (GRCm39)	F361S	probably damaging	Het
Sirpb1a	G	A	3: 15,475,788 (GRCm39)		probably benign	Het
Smpd1	T	G	7: 105,205,848 (GRCm39)	V405G	probably damaging	Het
Spmip11	T	C	15: 98,486,425 (GRCm39)		probably benign	Het
Tead3	T	C	17: 28,551,780 (GRCm39)	T438A	possibly damaging	Het
Treh	A	T	9: 44,595,197 (GRCm39)	D89V	probably damaging	Het
Trim10	A	T	17: 37,188,140 (GRCm39)	H452L	probably benign	Het
Ugt2b1	A	G	5: 87,073,817 (GRCm39)	C181R	probably benign	Het
Xdh	A	T	17: 74,230,101 (GRCm39)	F277I	possibly damaging	Het
Zswim4	T	G	8: 84,938,769 (GRCm39)	T1038P	probably damaging	Het

Other mutations in N4bp2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03022:N4bp2l2	APN	5	150,566,761 (GRCm39)	missense	probably benign	0.37
IGL03234:N4bp2l2	APN	5	150,574,191 (GRCm39)	nonsense	probably null
IGL03274:N4bp2l2	APN	5	150,584,931 (GRCm39)	missense	probably damaging	0.99
R0723:N4bp2l2	UTSW	5	150,585,897 (GRCm39)	missense	probably damaging	1.00
R1745:N4bp2l2	UTSW	5	150,585,424 (GRCm39)	missense	probably benign	0.00
R1994:N4bp2l2	UTSW	5	150,584,748 (GRCm39)	missense	possibly damaging	0.81
R2141:N4bp2l2	UTSW	5	150,571,001 (GRCm39)	missense	probably damaging	1.00
R2201:N4bp2l2	UTSW	5	150,585,073 (GRCm39)	missense	probably damaging	0.98
R4662:N4bp2l2	UTSW	5	150,574,160 (GRCm39)	missense	probably damaging	1.00
R4854:N4bp2l2	UTSW	5	150,585,516 (GRCm39)	missense	probably benign	0.27
R4932:N4bp2l2	UTSW	5	150,566,606 (GRCm39)	missense	probably benign	0.30
R5572:N4bp2l2	UTSW	5	150,585,755 (GRCm39)	missense	probably benign	0.22
R7125:N4bp2l2	UTSW	5	150,573,894 (GRCm39)	splice site	probably null
R7552:N4bp2l2	UTSW	5	150,585,286 (GRCm39)	nonsense	probably null
R7806:N4bp2l2	UTSW	5	150,566,715 (GRCm39)	missense	unknown
R8143:N4bp2l2	UTSW	5	150,585,670 (GRCm39)	missense	probably benign	0.00
R8163:N4bp2l2	UTSW	5	150,584,774 (GRCm39)	missense	probably damaging	1.00
R8502:N4bp2l2	UTSW	5	150,585,821 (GRCm39)	missense	probably benign	0.31
R8936:N4bp2l2	UTSW	5	150,585,362 (GRCm39)	missense	probably benign	0.25
R9104:N4bp2l2	UTSW	5	150,566,724 (GRCm39)	missense	unknown
R9236:N4bp2l2	UTSW	5	150,585,734 (GRCm39)	missense	probably benign	0.00
R9236:N4bp2l2	UTSW	5	150,585,479 (GRCm39)	missense	probably benign	0.02
R9633:N4bp2l2	UTSW	5	150,585,103 (GRCm39)	missense	probably benign	0.02
R9792:N4bp2l2	UTSW	5	150,584,897 (GRCm39)	missense	probably benign	0.00
Z1176:N4bp2l2	UTSW	5	150,585,785 (GRCm39)	missense	probably benign	0.21

Posted On

2012-04-20