Mutagenetix > Incidental Mutation

Incidental Mutation 'R8900:Nxph1'

679901

Institutional Source

Beutler Lab

Gene Symbol

Nxph1

Ensembl Gene

ENSMUSG00000046178

Gene Name

neurexophilin 1

Synonyms

C130005L03Rik

MMRRC Submission

068757-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R8900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8948431-9249032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9247601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000125274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060369] [ENSMUST00000160300]

AlphaFold

Q61200

Predicted Effect

probably damaging
Transcript: ENSMUST00000060369
AA Change: S191P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: S191P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
Pfam:Neurexophilin	63	271	1.2e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160300
AA Change: S191P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: S191P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
Pfam:Neurexophilin	61	271	2.5e-115	PFAM

Meta Mutation Damage Score

0.1327

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show no obvious morbidity, premature mortality, or anatomical defects. However, males exhibit sterility and testis abnormalities probably because homologous recombination results in co-insertion of the 5' part of the HSV-TK cassette into the targeted locus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,045,218 (GRCm39)	T372A	probably benign	Het
Adamts8	C	A	9: 30,865,930 (GRCm39)	R493S	probably benign	Het
Ankrd33b	G	A	15: 31,297,830 (GRCm39)	T309I	probably damaging	Het
Arhgap22	G	A	14: 32,993,880 (GRCm39)	W58*	probably null	Het
B4galt4	C	T	16: 38,572,404 (GRCm39)		probably benign	Het
Bcl2a1a	A	T	9: 88,839,311 (GRCm39)	I70L	probably benign	Het
Bst1	A	G	5: 43,977,942 (GRCm39)	D97G	possibly damaging	Het
Cand2	C	T	6: 115,757,894 (GRCm39)	T52M	probably benign	Het
Cd101	C	A	3: 100,926,062 (GRCm39)	R219L	probably benign	Het
Cd5l	T	A	3: 87,274,882 (GRCm39)	D140E	probably benign	Het
Cdcp3	A	T	7: 130,904,197 (GRCm39)		probably benign	Het
Cebpa	A	G	7: 34,819,906 (GRCm39)	M355V	possibly damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Clec4a4	A	G	6: 123,000,875 (GRCm39)	E196G	probably damaging	Het
Cpxm1	T	A	2: 130,235,360 (GRCm39)	D544V	probably damaging	Het
Cwf19l2	T	A	9: 3,447,245 (GRCm39)	D535E	probably benign	Het
Daw1	T	G	1: 83,175,898 (GRCm39)	L212R	probably benign	Het
Dnm3	T	A	1: 162,135,445 (GRCm39)	T443S	probably benign	Het
Dock9	T	C	14: 121,817,940 (GRCm39)	D1627G	probably damaging	Het
Dohh	A	G	10: 81,223,735 (GRCm39)	I263V	probably benign	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Dus4l	G	T	12: 31,690,692 (GRCm39)	L320I	possibly damaging	Het
Edc4	A	C	8: 106,617,857 (GRCm39)	Q1139P	probably damaging	Het
Fam220a	T	A	5: 143,549,228 (GRCm39)	C213*	probably null	Het
Fgf14	A	T	14: 124,221,326 (GRCm39)	Y159*	probably null	Het
Gm45861	A	T	8: 28,019,632 (GRCm39)	D749V	unknown	Het
Hip1	T	C	5: 135,459,144 (GRCm39)	T203A	probably benign	Het
Igfals	A	G	17: 25,099,014 (GRCm39)	D35G	possibly damaging	Het
Itga4	T	A	2: 79,145,332 (GRCm39)	I716K	probably damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Ndufb3	T	C	1: 58,634,824 (GRCm39)	Y59H	probably damaging	Het
Nxpe3	T	C	16: 55,665,023 (GRCm39)	H399R	probably damaging	Het
Or13c7e-ps1	G	T	4: 43,781,432 (GRCm39)	S299R	probably benign	Het
Or1p1	T	C	11: 74,180,413 (GRCm39)	S314P	probably damaging	Het
Pcdha11	T	G	18: 37,145,799 (GRCm39)	I630S	probably damaging	Het
Pfkl	C	G	10: 77,836,615 (GRCm39)	G134A	probably damaging	Het
Phf19	A	T	2: 34,795,484 (GRCm39)	C196S	probably damaging	Het
Piezo2	T	C	18: 63,248,096 (GRCm39)	K468R	probably benign	Het
Plekhn1	T	C	4: 156,310,078 (GRCm39)	S79G	possibly damaging	Het
Pomk	A	G	8: 26,473,384 (GRCm39)	Y190H	possibly damaging	Het
Ppp1r13b	T	A	12: 111,838,778 (GRCm39)	E33D	probably damaging	Het
Raly	A	T	2: 154,705,493 (GRCm39)	I174F	probably damaging	Het
Rint1	T	C	5: 24,016,882 (GRCm39)	V549A	possibly damaging	Het
Rnf31	T	G	14: 55,833,689 (GRCm39)	C566G	probably damaging	Het
Scart1	G	A	7: 139,808,478 (GRCm39)	W796*	probably null	Het
Sdc1	C	T	12: 8,840,460 (GRCm39)	T79I	possibly damaging	Het
Sema6a	T	G	18: 47,424,182 (GRCm39)	E242A	probably damaging	Het
Slc22a30	A	C	19: 8,315,340 (GRCm39)	M430R	probably damaging	Het
Sp9	C	A	2: 73,103,863 (GRCm39)	T139K	probably benign	Het
Tbkbp1	T	C	11: 97,040,327 (GRCm39)	D29G	probably benign	Het
Tcf4	T	C	18: 69,697,761 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,689,437 (GRCm39)	I2050N	probably damaging	Het
Tiparp	T	A	3: 65,460,603 (GRCm39)	F531I	probably damaging	Het
Tmem132b	A	T	5: 125,855,884 (GRCm39)	I539F	probably damaging	Het
Ttf2	T	C	3: 100,859,956 (GRCm39)	D666G	probably damaging	Het
Vmn1r51	T	C	6: 90,106,842 (GRCm39)	S253P	probably damaging	Het
Vmn2r104	A	G	17: 20,261,924 (GRCm39)	I402T	probably damaging	Het
Vmn2r16	T	C	5: 109,511,619 (GRCm39)	Y609H	probably benign	Het
Vmn2r17	A	T	5: 109,575,863 (GRCm39)	M245L	probably benign	Het
Vmn2r42	C	T	7: 8,197,792 (GRCm39)	E276K	probably benign	Het
Wdr75	C	A	1: 45,838,287 (GRCm39)	N65K	probably damaging	Het
Zbtb47	A	C	9: 121,596,705 (GRCm39)	K687T	probably damaging	Het
Zfhx4	T	C	3: 5,463,924 (GRCm39)	S1361P	probably damaging	Het
Zfp317	T	A	9: 19,558,708 (GRCm39)	C396*	probably null	Het

Other mutations in Nxph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Nxph1	APN	6	9,247,743 (GRCm39)	missense	probably damaging	1.00
IGL02256:Nxph1	APN	6	9,247,185 (GRCm39)	missense	probably benign	0.13
IGL03229:Nxph1	APN	6	9,247,830 (GRCm39)	missense	probably damaging	1.00
R0305:Nxph1	UTSW	6	9,247,754 (GRCm39)	missense	probably damaging	1.00
R1722:Nxph1	UTSW	6	9,247,516 (GRCm39)	missense	probably damaging	1.00
R1899:Nxph1	UTSW	6	9,247,622 (GRCm39)	missense	probably damaging	1.00
R2122:Nxph1	UTSW	6	9,247,791 (GRCm39)	missense	probably damaging	1.00
R2274:Nxph1	UTSW	6	9,247,746 (GRCm39)	missense	probably damaging	1.00
R5219:Nxph1	UTSW	6	9,247,765 (GRCm39)	nonsense	probably null
R5715:Nxph1	UTSW	6	9,247,740 (GRCm39)	missense	probably damaging	1.00
R6048:Nxph1	UTSW	6	9,247,103 (GRCm39)	missense	probably benign
R7177:Nxph1	UTSW	6	9,247,497 (GRCm39)	missense	probably damaging	1.00
R8987:Nxph1	UTSW	6	8,950,312 (GRCm39)	splice site	probably benign
R9618:Nxph1	UTSW	6	9,247,108 (GRCm39)	missense	probably benign	0.00
R9659:Nxph1	UTSW	6	9,247,418 (GRCm39)	missense	probably damaging	1.00
R9788:Nxph1	UTSW	6	9,247,418 (GRCm39)	missense	probably damaging	1.00
X0017:Nxph1	UTSW	6	9,247,208 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACAGTGAAGCTAAACCTGTTG -3'
(R):5'- GTGATAGTTGTAGTCAGGGCATAC -3'

Sequencing Primer
(F):5'- CAGTGAAGCTAAACCTGTTGATAAC -3'
(R):5'- ACCTTGAAGGGCTTAGAG -3'

Posted On

2021-08-31