Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Nxpe4'

175811

Institutional Source

Beutler Lab

Gene Symbol

Nxpe4

Ensembl Gene

ENSMUSG00000044229

Gene Name

neurexophilin and PC-esterase domain family, member 4

Synonyms

Fam55d, D930028F11Rik

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48073321-48311325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48307855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 320 (W320R)

Ref Sequence

ENSEMBL: ENSMUSP00000149644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093853] [ENSMUST00000215780] [ENSMUST00000216998]

AlphaFold

Q52KP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093853
AA Change: W320R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: W320R

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
Pfam:Neurexophilin	74	272	8.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215780
AA Change: W320R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216998
AA Change: W320R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217002

Meta Mutation Damage Score

0.3002

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,126,594 (GRCm39)	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Col11a1	C	T	3: 113,946,262 (GRCm39)		probably benign	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,591 (GRCm39)	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sapcd2	T	A	2: 25,266,422 (GRCm39)	I403N	probably damaging	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Slc45a3	T	A	1: 131,909,267 (GRCm39)	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	Het

Other mutations in Nxpe4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Nxpe4	APN	9	48,305,440 (GRCm39)	missense	possibly damaging	0.63
IGL01723:Nxpe4	APN	9	48,309,898 (GRCm39)	missense	probably benign	0.00
IGL03008:Nxpe4	APN	9	48,304,738 (GRCm39)	missense	probably benign	0.01
IGL03022:Nxpe4	APN	9	48,304,548 (GRCm39)	missense	probably damaging	0.99
IGL03271:Nxpe4	APN	9	48,304,345 (GRCm39)	missense	probably damaging	0.99
R0633:Nxpe4	UTSW	9	48,307,897 (GRCm39)	missense	probably benign
R1033:Nxpe4	UTSW	9	48,304,533 (GRCm39)	missense	probably damaging	1.00
R1186:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R1296:Nxpe4	UTSW	9	48,307,793 (GRCm39)	missense	probably benign	0.00
R1813:Nxpe4	UTSW	9	48,304,678 (GRCm39)	missense	possibly damaging	0.87
R2511:Nxpe4	UTSW	9	48,304,533 (GRCm39)	missense	probably damaging	1.00
R2902:Nxpe4	UTSW	9	48,305,446 (GRCm39)	missense	probably benign	0.00
R4229:Nxpe4	UTSW	9	48,304,122 (GRCm39)	missense	possibly damaging	0.80
R4230:Nxpe4	UTSW	9	48,304,122 (GRCm39)	missense	possibly damaging	0.80
R4231:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4233:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4236:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4296:Nxpe4	UTSW	9	48,310,284 (GRCm39)	missense	probably damaging	0.98
R5016:Nxpe4	UTSW	9	48,304,185 (GRCm39)	missense	probably benign	0.12
R5644:Nxpe4	UTSW	9	48,304,050 (GRCm39)	missense	probably benign	0.01
R5797:Nxpe4	UTSW	9	48,307,838 (GRCm39)	missense	possibly damaging	0.86
R5979:Nxpe4	UTSW	9	48,307,862 (GRCm39)	missense	probably benign	0.02
R6170:Nxpe4	UTSW	9	48,304,104 (GRCm39)	missense	probably benign	0.12
R6208:Nxpe4	UTSW	9	48,304,678 (GRCm39)	missense	probably benign	0.12
R6431:Nxpe4	UTSW	9	48,304,145 (GRCm39)	missense	probably damaging	0.99
R7475:Nxpe4	UTSW	9	48,304,640 (GRCm39)	nonsense	probably null
R8093:Nxpe4	UTSW	9	48,307,852 (GRCm39)	missense	probably benign	0.03
R8103:Nxpe4	UTSW	9	48,304,020 (GRCm39)	missense	probably benign
R8185:Nxpe4	UTSW	9	48,304,509 (GRCm39)	missense	possibly damaging	0.89
R8768:Nxpe4	UTSW	9	48,304,050 (GRCm39)	missense	probably benign	0.01
R8774:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R8774-TAIL:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R8903:Nxpe4	UTSW	9	48,310,250 (GRCm39)	missense	probably damaging	0.99
R9064:Nxpe4	UTSW	9	48,309,964 (GRCm39)	missense	probably benign	0.43
R9327:Nxpe4	UTSW	9	48,309,984 (GRCm39)	missense	probably benign	0.05
R9682:Nxpe4	UTSW	9	48,304,248 (GRCm39)	missense	probably benign	0.16
X0062:Nxpe4	UTSW	9	48,310,325 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACACGCCTATCCAACGGGCTCTTTG -3'
(R):5'- TGACATTCTGGGAAACCTCGCCTTC -3'

Sequencing Primer
(F):5'- CAACGGGCTCTTTGAAAAAGATG -3'
(R):5'- CCCTCAGGCAGTCTTTCATT -3'

Posted On

2014-04-24