Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Snx4'

537132

Institutional Source

Beutler Lab

Gene Symbol

Snx4

Ensembl Gene

ENSMUSG00000022808

Gene Name

sorting nexin 4

Synonyms

1810036H14Rik

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33071826-33119932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33071840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 4 (A4S)

Ref Sequence

ENSEMBL: ENSMUSP00000023502 (fasta)

Gene Model

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

AlphaFold

Q91YJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023502
AA Change: A4S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808
AA Change: A4S

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
AA Change: A4S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly 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
R2177:Snx4	UTSW	16	33,106,428 (GRCm39)	splice site	probably null
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
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'- GTAGCCAACCCTCTGTAGTC -3'
(R):5'- GTGAGTCCATTTCCACTCCG -3'

Sequencing Primer
(F):5'- AACCCTCTGTAGTCGCCCTAG -3'
(R):5'- ATCGGGTCATCCTCCGGTC -3'

Posted On

2018-10-18