Mutagenetix > Incidental Mutation

Incidental Mutation 'R1613:Snx4'

176963

Institutional Source

Beutler Lab

Gene Symbol

Snx4

Ensembl Gene

ENSMUSG00000022808

Gene Name

sorting nexin 4

Synonyms

1810036H14Rik

MMRRC Submission

039650-MU

Accession Numbers

Essential gene?

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

Stock #

R1613 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

33071826-33119932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33106416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 283 (M283R)

Ref Sequence

ENSEMBL: ENSMUSP00000023502 (fasta)

Gene Model

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

AlphaFold

Q91YJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023502
AA Change: M283R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808
AA Change: M283R

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

0.6671

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

82% (69/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aldh3a1	A	T	11: 61,105,377 (GRCm39)	D161V	probably damaging	Het
Aloxe3	A	G	11: 69,020,872 (GRCm39)	D199G	possibly damaging	Het
Amfr	T	A	8: 94,725,854 (GRCm39)	M176L	probably benign	Het
Amigo1	A	T	3: 108,095,536 (GRCm39)	E345V	probably benign	Het
Atp13a3	T	C	16: 30,151,118 (GRCm39)	Y1064C	probably damaging	Het
Brd7	A	T	8: 89,073,578 (GRCm39)	C271S	probably benign	Het
Bub1b	T	A	2: 118,470,222 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,499,522 (GRCm39)	I887F	probably damaging	Het
Ceacam14	T	C	7: 17,547,973 (GRCm39)		probably benign	Het
Cntn1	T	A	15: 92,143,871 (GRCm39)	V278E	possibly damaging	Het
Col6a6	A	C	9: 105,609,410 (GRCm39)		probably null	Het
Cspp1	C	T	1: 10,203,466 (GRCm39)	R1016C	probably damaging	Het
Cyp2c39	A	G	19: 39,527,455 (GRCm39)	Y267C	probably damaging	Het
Cyp2c67	C	T	19: 39,614,643 (GRCm39)	V295I	probably benign	Het
Cyp2d40	T	C	15: 82,645,640 (GRCm39)	T122A	unknown	Het
Dennd10	T	A	19: 60,810,763 (GRCm39)	V171D	possibly damaging	Het
Dmxl2	A	G	9: 54,289,311 (GRCm39)	I2541T	probably benign	Het
Eif3e	G	A	15: 43,113,620 (GRCm39)	A438V	possibly damaging	Het
Fam178b	C	A	1: 36,639,273 (GRCm39)	W342L	probably benign	Het
Fam78a	G	T	2: 31,959,581 (GRCm39)	N176K	probably damaging	Het
Ghrhr	A	T	6: 55,356,682 (GRCm39)	K93M	probably damaging	Het
Gm1527	T	A	3: 28,953,002 (GRCm39)		probably null	Het
Gm1553	G	A	10: 82,328,430 (GRCm39)		probably benign	Het
Gm5885	G	A	6: 133,508,205 (GRCm39)		noncoding transcript	Het
Gm8674	G	A	13: 50,056,474 (GRCm39)		noncoding transcript	Het
Hoxc6	C	T	15: 102,918,017 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,223,348 (GRCm39)	T1189A	probably damaging	Het
Iqgap1	T	C	7: 80,418,205 (GRCm39)	E55G	probably damaging	Het
Kcnh2	G	A	5: 24,527,760 (GRCm39)		probably benign	Het
Lama1	G	A	17: 68,114,918 (GRCm39)	G2356S	probably benign	Het
Mdfic	T	A	6: 15,799,589 (GRCm39)		probably null	Het
Me3	T	C	7: 89,435,628 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,170,338 (GRCm39)	D258G	probably damaging	Het
Nfe2	T	C	15: 103,157,556 (GRCm39)	D145G	probably damaging	Het
Nkapd1	T	C	9: 50,519,105 (GRCm39)	K169R	probably damaging	Het
Or10j3b	C	T	1: 173,043,434 (GRCm39)	T72I	probably benign	Het
Or1ad1	T	A	11: 50,876,045 (GRCm39)	N172K	probably damaging	Het
Or1j20	A	C	2: 36,760,405 (GRCm39)	I276L	possibly damaging	Het
Or2y1e	A	G	11: 49,218,520 (GRCm39)	Y94C	probably damaging	Het
Or4a67	T	C	2: 88,598,149 (GRCm39)	N170S	probably damaging	Het
Or4k1	A	C	14: 50,377,751 (GRCm39)	L115R	probably damaging	Het
Or5al5	A	T	2: 85,961,407 (GRCm39)	L200Q	probably damaging	Het
P4ha3	A	T	7: 99,962,457 (GRCm39)	D405V	possibly damaging	Het
Palmd	T	C	3: 116,717,153 (GRCm39)	D448G	probably damaging	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pcsk6	A	G	7: 65,560,059 (GRCm39)		probably benign	Het
Pidd1	T	C	7: 141,020,690 (GRCm39)	E469G	probably damaging	Het
Ptpn13	A	G	5: 103,684,737 (GRCm39)	D875G	possibly damaging	Het
Rasgrf2	A	G	13: 92,050,740 (GRCm39)	L886P	probably damaging	Het
Scrib	G	A	15: 75,920,391 (GRCm39)	R1454C	probably damaging	Het
Slc24a1	A	G	9: 64,855,978 (GRCm39)	S310P	unknown	Het
Slc44a5	A	G	3: 153,963,351 (GRCm39)		probably null	Het
Snx7	A	T	3: 117,623,222 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,043,574 (GRCm39)	L212H	probably damaging	Het
Sult2a4	T	C	7: 13,723,420 (GRCm39)	K32E	probably damaging	Het
Tfrc	T	A	16: 32,442,193 (GRCm39)	Y473N	probably damaging	Het
Tlr2	C	G	3: 83,744,660 (GRCm39)	L474F	probably damaging	Het
Tnfrsf4	T	A	4: 156,100,619 (GRCm39)	F213I	probably benign	Het
Trim9	A	T	12: 70,295,169 (GRCm39)	I651N	probably damaging	Het
Vmn1r84	T	A	7: 12,096,460 (GRCm39)	I78L	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,356 (GRCm39)	Y561H	probably damaging	Het
Vmn2r95	A	G	17: 18,660,901 (GRCm39)		probably benign	Het
Zfp11	T	C	5: 129,735,431 (GRCm39)	N10S	probably benign	Het
Zfp81	A	T	17: 33,553,757 (GRCm39)	H352Q	probably damaging	Het
Zscan5b	T	A	7: 6,233,374 (GRCm39)	L66Q	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
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
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'- ACCAATGGACTTGCATCACAGACAG -3'
(R):5'- AAGGACTCAGCCAGTTTTCCCTGC -3'

Sequencing Primer
(F):5'- GGACTTGCATCACAGACAGTAAATC -3'
(R):5'- cttctgtcactacatgaattagacc -3'

Posted On

2014-04-24