Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:Snx4'

236964

Institutional Source

Beutler Lab

Gene Symbol

Snx4

Ensembl Gene

ENSMUSG00000022808

Gene Name

sorting nexin 4

Synonyms

1810036H14Rik

MMRRC Submission

040179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33071826-33119932 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 33106428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023502] [ENSMUST00000231389]

AlphaFold

Q91YJ2

Predicted Effect

probably null
Transcript: ENSMUST00000023502

SMART Domains

Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
PX	56	184	1.86e-34	SMART
low complexity region	237	248	N/A	INTRINSIC
coiled coil region	369	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231389

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,312 (GRCm39)	N356K	probably damaging	Het
Acap2	C	T	16: 30,952,346 (GRCm39)		probably null	Het
Adamts19	T	C	18: 59,087,626 (GRCm39)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,668,055 (GRCm39)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,141,946 (GRCm39)	C210*	probably null	Het
Apoa1	A	T	9: 46,141,371 (GRCm39)	K156*	probably null	Het
AW551984	G	A	9: 39,511,111 (GRCm39)	R159C	probably benign	Het
Bok	C	T	1: 93,622,787 (GRCm39)	Q112*	probably null	Het
Cemip2	T	C	19: 21,789,149 (GRCm39)	S528P	possibly damaging	Het
Cfap57	T	G	4: 118,463,885 (GRCm39)	I323L	probably benign	Het
Cfap69	T	A	5: 5,675,803 (GRCm39)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,452,097 (GRCm39)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,099,057 (GRCm39)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,320,611 (GRCm39)	T115S	probably benign	Het
Csf1r	T	A	18: 61,248,015 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,539,028 (GRCm39)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,872,367 (GRCm39)	H452R	probably benign	Het
Dscam	T	A	16: 96,411,524 (GRCm39)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,710,456 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,164,905 (GRCm39)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,911,393 (GRCm39)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,254,109 (GRCm39)	S599P	probably benign	Het
Iqce	T	C	5: 140,677,348 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,601,648 (GRCm39)	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,618,695 (GRCm39)	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,877,275 (GRCm39)	V43A	probably damaging	Het
Maea	C	G	5: 33,529,034 (GRCm39)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,539,847 (GRCm39)	I308N	probably damaging	Het
Marf1	G	T	16: 13,970,471 (GRCm39)	R83S	probably benign	Het
Me3	A	C	7: 89,282,278 (GRCm39)	T54P	probably benign	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Mmel1	A	G	4: 154,978,560 (GRCm39)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,128 (GRCm39)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,479,588 (GRCm39)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,054,686 (GRCm39)	T947S	probably benign	Het
Or14c45	G	A	7: 86,176,870 (GRCm39)	V302I	probably benign	Het
Or4b1d	T	A	2: 89,968,808 (GRCm39)	H225L	possibly damaging	Het
Or8b55	A	T	9: 38,727,482 (GRCm39)	I228F	possibly damaging	Het
Parp4	A	T	14: 56,896,746 (GRCm39)	R1923S	unknown	Het
Pcm1	T	C	8: 41,729,002 (GRCm39)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,322,791 (GRCm39)	S26G	probably benign	Het
Prom1	A	T	5: 44,184,081 (GRCm39)	H433Q	possibly damaging	Het
Rab7	T	C	6: 87,982,063 (GRCm39)	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,551,632 (GRCm39)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,430,666 (GRCm39)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm39)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 24,035,370 (GRCm39)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,595,228 (GRCm39)	T910A	probably benign	Het
Sesn1	A	G	10: 41,779,778 (GRCm39)	H345R	possibly damaging	Het
Tchh	A	G	3: 93,351,439 (GRCm39)	E293G	unknown	Het
Ulk2	T	A	11: 61,682,335 (GRCm39)	T727S	probably benign	Het
Usp53	T	C	3: 122,729,706 (GRCm39)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 84,871,123 (GRCm39)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,645,839 (GRCm39)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,235,118 (GRCm39)	Y263*	probably null	Het
Zfp119b	A	T	17: 56,245,639 (GRCm39)	C516S	probably damaging	Het

Other mutations in Snx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Snx4	APN	16	33,084,624 (GRCm39)	splice site	probably benign
IGL01831:Snx4	APN	16	33,104,792 (GRCm39)	nonsense	probably null
IGL02069:Snx4	APN	16	33,084,725 (GRCm39)	missense	probably damaging	1.00
IGL03204:Snx4	APN	16	33,090,039 (GRCm39)	missense	probably benign	0.01
R1336:Snx4	UTSW	16	33,101,050 (GRCm39)	missense	probably benign	0.20
R1613:Snx4	UTSW	16	33,106,416 (GRCm39)	missense	probably damaging	1.00
R1901:Snx4	UTSW	16	33,104,808 (GRCm39)	missense	possibly damaging	0.95
R3147:Snx4	UTSW	16	33,108,094 (GRCm39)	missense	probably benign	0.08
R3148:Snx4	UTSW	16	33,108,094 (GRCm39)	missense	probably benign	0.08
R4380:Snx4	UTSW	16	33,084,666 (GRCm39)	missense	probably damaging	1.00
R4924:Snx4	UTSW	16	33,115,100 (GRCm39)	missense	probably benign	0.04
R6889:Snx4	UTSW	16	33,071,840 (GRCm39)	missense	possibly damaging	0.89
R6904:Snx4	UTSW	16	33,115,108 (GRCm39)	missense	probably damaging	0.97
R7355:Snx4	UTSW	16	33,087,236 (GRCm39)	missense	probably damaging	1.00
R7937:Snx4	UTSW	16	33,112,199 (GRCm39)	missense	probably damaging	1.00
R9234:Snx4	UTSW	16	33,108,069 (GRCm39)	missense	probably benign	0.00
R9234:Snx4	UTSW	16	33,087,161 (GRCm39)	nonsense	probably null
R9457:Snx4	UTSW	16	33,106,380 (GRCm39)	missense	probably benign	0.01
R9524:Snx4	UTSW	16	33,112,228 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATGAGTCCTAGCTAGAAAAGGATC -3'
(R):5'- CATGTGACATGGCAGCAGAG -3'

Sequencing Primer
(F):5'- CTAGCTAGAAAAGGATCTTGTGACCC -3'
(R):5'- GTGTGTCAAATAACGTTTCTGTAGAC -3'

Posted On

2014-10-02