Mutagenetix > Incidental Mutation

Incidental Mutation 'R9618:Nxph1'

724658

Institutional Source

Beutler Lab

Gene Symbol

Nxph1

Ensembl Gene

ENSMUSG00000046178

Gene Name

neurexophilin 1

Synonyms

C130005L03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R9618 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8948431-9249032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9247108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 26 (N26K)

Ref Sequence

ENSEMBL: ENSMUSP00000060926 (fasta)

Gene Model

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

AlphaFold

Q61200

Predicted Effect

probably benign
Transcript: ENSMUST00000060369
AA Change: N26K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: N26K

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

SMART Domains

Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: N26K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
2310002L09Rik	C	A	4: 73,868,934 (GRCm39)	M1I	probably null	Het
2510039O18Rik	T	A	4: 148,029,873 (GRCm39)	Y614*	probably null	Het
4930562C15Rik	A	T	16: 4,667,418 (GRCm39)	S270C	unknown	Het
Ak9	A	C	10: 41,203,627 (GRCm39)	T173P		Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chrd	T	G	16: 20,552,378 (GRCm39)	C82W	probably damaging	Het
Cln6	T	C	9: 62,758,111 (GRCm39)	V290A	probably damaging	Het
Cps1	A	G	1: 67,196,975 (GRCm39)	D342G	possibly damaging	Het
Cracd	A	G	5: 77,004,617 (GRCm39)	D326G	unknown	Het
Cryzl2	G	A	1: 157,289,578 (GRCm39)	R72H	probably benign	Het
Cyp2j6	A	T	4: 96,414,085 (GRCm39)	H393Q	probably benign	Het
Eefsec	T	C	6: 88,274,681 (GRCm39)	T428A	probably benign	Het
Ergic1	G	A	17: 26,827,619 (GRCm39)	G25S	probably damaging	Het
Esf1	T	C	2: 140,001,714 (GRCm39)	I378V	probably benign	Het
Fndc1	T	A	17: 7,990,313 (GRCm39)	T1128S	unknown	Het
Gabrp	A	T	11: 33,504,342 (GRCm39)	Y324*	probably null	Het
Hadha	G	A	5: 30,339,165 (GRCm39)	T270M	possibly damaging	Het
Hdac1-ps	T	C	17: 78,799,114 (GRCm39)	I35T	probably damaging	Het
Ino80d	G	A	1: 63,101,342 (GRCm39)	T428M	probably damaging	Het
Itgae	T	C	11: 73,011,171 (GRCm39)	F647S	possibly damaging	Het
Kank4	T	C	4: 98,653,732 (GRCm39)	R899G	possibly damaging	Het
Kcna4	T	A	2: 107,126,374 (GRCm39)	N369K	probably benign	Het
Kcnip3	G	T	2: 127,352,812 (GRCm39)	P69Q	probably benign	Het
Mcf2l	A	G	8: 13,034,320 (GRCm39)		probably benign	Het
Mtmr2	T	C	9: 13,707,315 (GRCm39)	V289A	probably benign	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Obox1	A	G	7: 15,289,624 (GRCm39)	I138V	possibly damaging	Het
Or4c35	A	T	2: 89,808,343 (GRCm39)	T74S	probably benign	Het
Or4m1	A	T	14: 50,557,760 (GRCm39)	Y177*	probably null	Het
Or7e176	G	A	9: 20,171,639 (GRCm39)	V168M	possibly damaging	Het
P2ry14	T	A	3: 59,023,251 (GRCm39)	M70L	probably damaging	Het
Pcare	T	A	17: 72,057,817 (GRCm39)	Y620F	probably damaging	Het
Pcnt	A	G	10: 76,188,794 (GRCm39)	Y2869H	probably damaging	Het
Pkd1l1	T	C	11: 8,911,420 (GRCm39)	R286G		Het
Pygb	C	T	2: 150,657,008 (GRCm39)	R320W		Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slc15a5	A	T	6: 138,032,779 (GRCm39)	S192T	possibly damaging	Het
Tex15	A	G	8: 34,062,397 (GRCm39)	H609R	probably benign	Het
Tmem256	T	A	11: 69,730,210 (GRCm39)	S73T	possibly damaging	Het
Tpr	G	T	1: 150,321,979 (GRCm39)	A2338S	possibly damaging	Het
Trub2	A	T	2: 29,673,346 (GRCm39)	M119K	probably benign	Het
Vmn1r228	T	C	17: 20,997,045 (GRCm39)	M158V	probably benign	Het
Vmn2r100	A	T	17: 19,742,583 (GRCm39)	H319L	probably damaging	Het
Vmn2r3	T	A	3: 64,178,724 (GRCm39)	I514F	probably damaging	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Wnt16	G	T	6: 22,297,892 (GRCm39)	E253*	probably null	Het
Xkr4	A	T	1: 3,741,201 (GRCm39)	V124E	probably damaging	Het
Zc3h13	G	T	14: 75,567,542 (GRCm39)	R945L		Het
Zfp445	T	C	9: 122,685,788 (GRCm39)	N251D	probably damaging	Het
Zfp683	A	T	4: 133,782,965 (GRCm39)	D143V	probably benign	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
R8900:Nxph1	UTSW	6	9,247,601 (GRCm39)	missense	probably damaging	0.98
R8987:Nxph1	UTSW	6	8,950,312 (GRCm39)	splice site	probably benign
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'- TAATAAACAGTGGCCGGATACTGG -3'
(R):5'- TCCTGAAGATCTGTGGAGTTCC -3'

Sequencing Primer
(F):5'- CGGATACTGGAGGTGCTTTTAAGAAC -3'
(R):5'- TCCCAGAGGTCTTGCTCAGAATAAG -3'

Posted On

2022-09-12