Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Nxph3'

302722

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxph3

Ensembl Gene

ENSMUSG00000046719

Gene Name

neurexophilin 3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

95400671-95405380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95401834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 193 (H193Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058866]

AlphaFold

Q91VX5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058866
AA Change: H193Q

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058254
Gene: ENSMUSG00000046719
AA Change: H193Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neurexophilin	57	252	7.4e-100	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display alterations in sensory information processing and motor coordination, as shown by increased startle response, reduced prepulse inhibition, and impaired rotarod performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,944 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,934,431 (GRCm39)	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148 (GRCm39)	I382T	probably benign	Het
Cux1	C	A	5: 136,304,169 (GRCm39)	E1336*	probably null	Het
Cyb5r3	T	C	15: 83,044,554 (GRCm39)	I155V	probably damaging	Het
Ddx24	T	C	12: 103,390,314 (GRCm39)	T226A	possibly damaging	Het
Dld	T	C	12: 31,382,408 (GRCm39)	N465S	probably null	Het
Dnmbp	A	G	19: 43,842,566 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,818,111 (GRCm39)	H1580R	probably benign	Het
Drd3	C	A	16: 43,637,319 (GRCm39)		probably benign	Het
Gabrb2	G	T	11: 42,420,322 (GRCm39)		probably null	Het
Gbp9	T	C	5: 105,242,141 (GRCm39)		probably null	Het
Inhba	A	T	13: 16,201,664 (GRCm39)	I409F	possibly damaging	Het
Iqgap2	T	C	13: 95,764,564 (GRCm39)	N1560S	probably damaging	Het
Itsn1	A	G	16: 91,617,606 (GRCm39)		probably benign	Het
Kat6b	T	C	14: 21,678,938 (GRCm39)	F434L	probably damaging	Het
Klra1	A	G	6: 130,341,278 (GRCm39)	C232R	probably damaging	Het
Krt18	T	A	15: 101,938,302 (GRCm39)	I175N	probably damaging	Het
Lck	A	G	4: 129,450,212 (GRCm39)	V178A	probably damaging	Het
Mroh4	C	A	15: 74,481,624 (GRCm39)	G737V	probably benign	Het
Mug2	A	C	6: 122,058,285 (GRCm39)	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,832,187 (GRCm39)	N2572S	probably benign	Het
Nup88	G	T	11: 70,834,695 (GRCm39)		probably benign	Het
Or5b97	G	T	19: 12,878,221 (GRCm39)	H308N	probably benign	Het
Orm2	A	G	4: 63,283,970 (GRCm39)	T198A	possibly damaging	Het
Pom121	T	C	5: 135,415,686 (GRCm39)	I397V	unknown	Het
Prex1	C	A	2: 166,414,909 (GRCm39)	E1313D	probably benign	Het
Prkg2	T	A	5: 99,145,378 (GRCm39)		probably benign	Het
Prl2a1	A	T	13: 27,990,310 (GRCm39)	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,355,057 (GRCm39)	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,209 (GRCm39)	I1100F	probably benign	Het
Ryr1	C	A	7: 28,719,188 (GRCm39)	M4406I	unknown	Het
Sdf4	T	A	4: 156,093,281 (GRCm39)	Y204*	probably null	Het
Serinc1	A	T	10: 57,400,089 (GRCm39)		probably null	Het
Slc39a5	C	T	10: 128,234,324 (GRCm39)	R193H	probably damaging	Het
Smad9	A	G	3: 54,689,888 (GRCm39)	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,123 (GRCm39)	L25I	possibly damaging	Het
Stab2	A	T	10: 86,686,766 (GRCm39)	S809R	possibly damaging	Het
Szt2	G	A	4: 118,231,252 (GRCm39)	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,606,058 (GRCm39)		probably benign	Het
Tfap2d	A	C	1: 19,174,979 (GRCm39)	D144A	probably benign	Het
Tmprss11d	A	T	5: 86,479,052 (GRCm39)	V117D	probably damaging	Het
Tnxb	A	G	17: 34,903,913 (GRCm39)	D1141G	probably benign	Het
Traf6	A	T	2: 101,527,512 (GRCm39)	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,448,607 (GRCm39)		probably benign	Het
Utp25	G	A	1: 192,789,904 (GRCm39)	Q752*	probably null	Het
Vmn1r73	C	A	7: 11,490,865 (GRCm39)	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,296,433 (GRCm39)	I784T	probably benign	Het
Zfp420	A	G	7: 29,573,795 (GRCm39)	D5G	probably benign	Het

Other mutations in Nxph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Nxph3	APN	11	95,401,919 (GRCm39)	missense	possibly damaging	0.93
IGL02411:Nxph3	APN	11	95,401,656 (GRCm39)	makesense	probably null
R0281:Nxph3	UTSW	11	95,402,082 (GRCm39)	missense	possibly damaging	0.95
R0827:Nxph3	UTSW	11	95,402,252 (GRCm39)	missense	probably benign	0.01
R2226:Nxph3	UTSW	11	95,404,990 (GRCm39)	missense	probably benign	0.11
R4829:Nxph3	UTSW	11	95,402,321 (GRCm39)	missense	probably benign	0.17
R6470:Nxph3	UTSW	11	95,401,919 (GRCm39)	missense	possibly damaging	0.93
R6991:Nxph3	UTSW	11	95,402,244 (GRCm39)	missense	probably damaging	0.97
R7113:Nxph3	UTSW	11	95,401,892 (GRCm39)	missense	possibly damaging	0.95
R8700:Nxph3	UTSW	11	95,401,706 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16