Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:N4bp1'

253345

Institutional Source

Beutler Lab

Gene Symbol

N4bp1

Ensembl Gene

ENSMUSG00000031652

Gene Name

NEDD4 binding protein 1

Synonyms

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87567764-87612489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87588033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 302 (N302D)

Ref Sequence

ENSEMBL: ENSMUSP00000034074 (fasta)

Gene Model

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

AlphaFold

Q6A037

Predicted Effect

probably benign
Transcript: ENSMUST00000034074
AA Change: N302D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: N302D

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

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.8%
20x: 82.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,595,378 (GRCm39)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,478 (GRCm39)	M1R	probably null	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm39)	E240G	probably damaging	Het
Dnaaf11	A	T	15: 66,310,257 (GRCm39)	L337*	probably null	Het
Epha6	T	C	16: 59,780,659 (GRCm39)		probably null	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Kif20b	A	G	19: 34,917,528 (GRCm39)	E631G	probably damaging	Het
Lctl	T	C	9: 64,045,150 (GRCm39)	S550P	probably benign	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Pcdh7	A	T	5: 57,879,236 (GRCm39)	K930N	probably damaging	Het
Pramel16	T	A	4: 143,675,456 (GRCm39)	I457L	probably benign	Het
Proca1	A	T	11: 78,095,806 (GRCm39)	N146I	probably damaging	Het
Ryr2	A	T	13: 11,776,235 (GRCm39)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,725,209 (GRCm39)	T216A	probably benign	Het
Thnsl2	C	A	6: 71,108,945 (GRCm39)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Tradd	G	T	8: 105,986,145 (GRCm39)	F182L	probably benign	Het
Trav17	A	T	14: 54,044,383 (GRCm39)	Y50F	probably benign	Het
Usp37	A	T	1: 74,489,691 (GRCm39)	D808E	probably damaging	Het
Usp42	G	A	5: 143,701,219 (GRCm39)	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,690,123 (GRCm39)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 40,962,785 (GRCm39)	A149V	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAACGGTTCTGTAGAAGGCC -3'
(R):5'- TGAGCTTACAAAACACATGGAC -3'

Sequencing Primer
(F):5'- TAACGGTTCTGTAGAAGGCCCATAC -3'
(R):5'- CACATGGACACAGTCTTCTCTAG -3'

Posted On

2014-12-04