Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Nxph4'

317375

Institutional Source

Beutler Lab

Gene Symbol

Nxph4

Ensembl Gene

ENSMUSG00000040258

Gene Name

neurexophilin 4

Synonyms

1110036M10Rik

MMRRC Submission

041625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127361342-127370428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127362555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 112 (Y112C)

Ref Sequence

ENSEMBL: ENSMUSP00000092900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026470] [ENSMUST00000095266] [ENSMUST00000219239]

AlphaFold

G3X9N5

Predicted Effect

probably benign
Transcript: ENSMUST00000026470

SMART Domains

Protein: ENSMUSP00000026470
Gene: ENSMUSG00000025403

Domain	Start	End	E-Value	Type
Pfam:SHMT	49	448	5.4e-211	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000095266
AA Change: Y112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092900
Gene: ENSMUSG00000040258
AA Change: Y112C

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neurexophilin	70	166	3e-32	PFAM
Pfam:Neurexophilin	217	304	1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218313

Predicted Effect

probably benign
Transcript: ENSMUST00000219239

Meta Mutation Damage Score

0.8213

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit nitrituria. Female homozygotes display decreased circulating triglyceride levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,158,362 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col24a1	G	A	3: 145,167,192 (GRCm39)	G1090R	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Or6c70	A	G	10: 129,710,167 (GRCm39)	V153A	possibly damaging	Het
Pgls	G	A	8: 72,048,734 (GRCm39)	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Septin10	A	T	10: 59,028,045 (GRCm39)	L92*	probably null	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	probably benign	Het

Other mutations in Nxph4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0325:Nxph4	UTSW	10	127,362,780 (GRCm39)	missense	probably damaging	1.00
R0400:Nxph4	UTSW	10	127,362,127 (GRCm39)	missense	possibly damaging	0.77
R0714:Nxph4	UTSW	10	127,362,808 (GRCm39)	missense	probably damaging	0.99
R1676:Nxph4	UTSW	10	127,362,077 (GRCm39)	missense	probably damaging	1.00
R1736:Nxph4	UTSW	10	127,362,465 (GRCm39)	missense	probably damaging	1.00
R5402:Nxph4	UTSW	10	127,362,133 (GRCm39)	missense	probably damaging	1.00
R6332:Nxph4	UTSW	10	127,362,237 (GRCm39)	missense	probably damaging	0.99
R9290:Nxph4	UTSW	10	127,362,546 (GRCm39)	missense	probably damaging	1.00
R9375:Nxph4	UTSW	10	127,362,631 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAAAAGCGCGCGACTCTTTG -3'
(R):5'- CCAGTACCTAGACTTGCGTC -3'

Sequencing Primer
(F):5'- TTTGGCCCCAGGAACTCCTAG -3'
(R):5'- CCAGCGCCCGCATCTTC -3'

Posted On

2015-05-15