Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Nxpe4'

92450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxpe4

Ensembl Gene

ENSMUSG00000044229

Gene Name

neurexophilin and PC-esterase domain family, member 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

48162023-48400025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48394140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 277 (S277P)

Ref Sequence

ENSEMBL: ENSMUSP00000149644 (fasta)

Gene Model

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

AlphaFold

Q52KP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093853
AA Change: S277P

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: S277P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215780
AA Change: S277P

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216998
AA Change: S277P

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217002

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Nxpe4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Nxpe4	APN	9	48398598	missense	probably benign	0.00
IGL03008:Nxpe4	APN	9	48393438	missense	probably benign	0.01
IGL03022:Nxpe4	APN	9	48393248	missense	probably damaging	0.99
IGL03271:Nxpe4	APN	9	48393045	missense	probably damaging	0.99
R0633:Nxpe4	UTSW	9	48396597	missense	probably benign
R1033:Nxpe4	UTSW	9	48393233	missense	probably damaging	1.00
R1186:Nxpe4	UTSW	9	48393392	missense	probably benign	0.23
R1296:Nxpe4	UTSW	9	48396493	missense	probably benign	0.00
R1596:Nxpe4	UTSW	9	48396555	missense	probably damaging	0.97
R1813:Nxpe4	UTSW	9	48393378	missense	possibly damaging	0.87
R2511:Nxpe4	UTSW	9	48393233	missense	probably damaging	1.00
R2902:Nxpe4	UTSW	9	48394146	missense	probably benign	0.00
R4229:Nxpe4	UTSW	9	48392822	missense	possibly damaging	0.80
R4230:Nxpe4	UTSW	9	48392822	missense	possibly damaging	0.80
R4231:Nxpe4	UTSW	9	48398837	missense	probably damaging	1.00
R4233:Nxpe4	UTSW	9	48398837	missense	probably damaging	1.00
R4236:Nxpe4	UTSW	9	48398837	missense	probably damaging	1.00
R4296:Nxpe4	UTSW	9	48398984	missense	probably damaging	0.98
R5016:Nxpe4	UTSW	9	48392885	missense	probably benign	0.12
R5644:Nxpe4	UTSW	9	48392750	missense	probably benign	0.01
R5797:Nxpe4	UTSW	9	48396538	missense	possibly damaging	0.86
R5979:Nxpe4	UTSW	9	48396562	missense	probably benign	0.02
R6170:Nxpe4	UTSW	9	48392804	missense	probably benign	0.12
R6208:Nxpe4	UTSW	9	48393378	missense	probably benign	0.12
R6431:Nxpe4	UTSW	9	48392845	missense	probably damaging	0.99
R7475:Nxpe4	UTSW	9	48393340	nonsense	probably null
R8093:Nxpe4	UTSW	9	48396552	missense	probably benign	0.03
R8103:Nxpe4	UTSW	9	48392720	missense	probably benign
R8185:Nxpe4	UTSW	9	48393209	missense	possibly damaging	0.89
R8768:Nxpe4	UTSW	9	48392750	missense	probably benign	0.01
R8774:Nxpe4	UTSW	9	48393392	missense	probably benign	0.23
R8774-TAIL:Nxpe4	UTSW	9	48393392	missense	probably benign	0.23
R8903:Nxpe4	UTSW	9	48398950	missense	probably damaging	0.99
R9064:Nxpe4	UTSW	9	48398664	missense	probably benign	0.43
R9327:Nxpe4	UTSW	9	48398684	missense	probably benign	0.05
R9682:Nxpe4	UTSW	9	48392948	missense	probably benign	0.16
X0062:Nxpe4	UTSW	9	48399025	missense	probably benign

Posted On

2013-12-09