Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Snx15'

545874

Institutional Source

Beutler Lab

Gene Symbol

Snx15

Ensembl Gene

ENSMUSG00000024787

Gene Name

sorting nexin 15

Synonyms

E130013C21Rik, 1500032B08Rik

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6169429-6178334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6170626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 271 (Q271L)

Ref Sequence

ENSEMBL: ENSMUSP00000025702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000044451] [ENSMUST00000113533] [ENSMUST00000138931] [ENSMUST00000154601]

AlphaFold

Q91WE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025702
AA Change: Q271L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: Q271L

Domain	Start	End	E-Value	Type
PX	8	126	1.78e-22	SMART
low complexity region	140	151	N/A	INTRINSIC
MIT	265	337	7.77e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044451

SMART Domains

Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	32	47	N/A	INTRINSIC
Pfam:PA	163	256	3e-12	PFAM
Pfam:Peptidase_M28	353	564	1.3e-22	PFAM
low complexity region	579	592	N/A	INTRINSIC
Pfam:TFR_dimer	621	740	4.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113533

SMART Domains

Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
Pfam:SAC3_GANP	134	356	7.6e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138931

SMART Domains

Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787

Domain	Start	End	E-Value	Type
PX	8	112	1.69e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154601

SMART Domains

Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787

Domain	Start	End	E-Value	Type
PX	8	126	1.78e-22	SMART
low complexity region	140	151	N/A	INTRINSIC
Blast:MIT	222	251	4e-12	BLAST

Meta Mutation Damage Score

0.1185

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het

Other mutations in Snx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Snx15	APN	19	6,169,915 (GRCm39)	missense	probably benign	0.00
IGL02102:Snx15	APN	19	6,172,104 (GRCm39)	missense	possibly damaging	0.69
PIT4418001:Snx15	UTSW	19	6,173,961 (GRCm39)	missense	probably damaging	1.00
R0079:Snx15	UTSW	19	6,173,943 (GRCm39)	missense	probably damaging	1.00
R0654:Snx15	UTSW	19	6,171,915 (GRCm39)	missense	probably benign	0.33
R1499:Snx15	UTSW	19	6,172,094 (GRCm39)	missense	probably damaging	1.00
R1943:Snx15	UTSW	19	6,178,096 (GRCm39)	missense	probably damaging	1.00
R2991:Snx15	UTSW	19	6,171,515 (GRCm39)	missense	probably damaging	0.99
R3769:Snx15	UTSW	19	6,173,984 (GRCm39)	splice site	probably benign
R5117:Snx15	UTSW	19	6,174,181 (GRCm39)	critical splice donor site	probably null
R5763:Snx15	UTSW	19	6,172,140 (GRCm39)	missense	probably damaging	0.99
R6219:Snx15	UTSW	19	6,171,538 (GRCm39)	missense	probably damaging	0.99
R7297:Snx15	UTSW	19	6,170,537 (GRCm39)	missense	probably damaging	1.00
R8139:Snx15	UTSW	19	6,169,946 (GRCm39)	missense	probably damaging	1.00
R8139:Snx15	UTSW	19	6,169,945 (GRCm39)	missense	probably damaging	1.00
R8750:Snx15	UTSW	19	6,170,593 (GRCm39)	missense	probably benign	0.34
Z1088:Snx15	UTSW	19	6,171,441 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAGATGTTCACGGTCCCTC -3'
(R):5'- GAAACAGATCCCAGCTGCTTC -3'

Sequencing Primer
(F):5'- ACGTTTGCTGGAACCGTC -3'
(R):5'- CCTTCTACTCAAGTGAATTCAGTGGG -3'

Posted On

2019-05-13