Mutagenetix > Incidental Mutation

Incidental Mutation 'R2991:Snx15'

257925

Institutional Source

Beutler Lab

Gene Symbol

Snx15

Ensembl Gene

ENSMUSG00000024787

Gene Name

sorting nexin 15

Synonyms

E130013C21Rik, 1500032B08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2991 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

6169429-6178334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6171515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 186 (L186F)

Ref Sequence

ENSEMBL: ENSMUSP00000025702 (fasta)

Gene Model

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

AlphaFold

Q91WE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025702
AA Change: L186F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: L186F

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: 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

noncoding transcript
Transcript: ENSMUST00000124171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129076

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

noncoding transcript
Transcript: ENSMUST00000150718

Predicted Effect

probably benign
Transcript: ENSMUST00000154601
AA Change: L186F

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: L186F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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. 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,832,690 (GRCm39)	T282S	probably benign	Het
Asic2	C	A	11: 81,858,863 (GRCm39)	V50L	probably benign	Het
Cdadc1	T	C	14: 59,823,521 (GRCm39)	M324V	possibly damaging	Het
Cdcp3	A	T	7: 130,848,429 (GRCm39)	D861V	probably damaging	Het
Col12a1	A	T	9: 79,607,547 (GRCm39)	V427D	probably damaging	Het
Col3a1	C	A	1: 45,374,939 (GRCm39)		probably benign	Het
Esp24	A	T	17: 39,350,894 (GRCm39)	E31D	possibly damaging	Het
Igkv14-100	T	A	6: 68,496,335 (GRCm39)	L76*	probably null	Het
Itsn2	T	C	12: 4,708,474 (GRCm39)	V843A	probably benign	Het
Llgl2	T	C	11: 115,741,946 (GRCm39)	S663P	probably benign	Het
Lsg1	T	C	16: 30,380,547 (GRCm39)	N630S	probably damaging	Het
Lypd8l	C	T	11: 58,501,516 (GRCm39)	V156I	possibly damaging	Het
Msh4	A	G	3: 153,611,497 (GRCm39)	V42A	probably benign	Het
Nkx6-1	T	C	5: 101,807,401 (GRCm39)	Y327C	probably damaging	Het
Or9i1b	G	A	19: 13,896,675 (GRCm39)	C97Y	probably damaging	Het
Pde4a	T	C	9: 21,114,539 (GRCm39)	S369P	probably damaging	Het
Pkdrej	T	C	15: 85,704,137 (GRCm39)	I600V	probably benign	Het
Plekhg6	T	C	6: 125,347,432 (GRCm39)	E479G	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rgmb	A	T	17: 16,041,352 (GRCm39)	D78E	probably damaging	Het
Samd12	C	T	15: 53,723,592 (GRCm39)	E34K	probably damaging	Het
Slc22a21	T	G	11: 53,850,195 (GRCm39)	E220A	probably damaging	Het
Smc6	A	G	12: 11,339,982 (GRCm39)	E430G	probably damaging	Het
Tiam2	A	G	17: 3,568,525 (GRCm39)	E1557G	probably benign	Het
Vwa8	A	T	14: 79,232,589 (GRCm39)	T644S	probably benign	Het
Zcchc4	T	A	5: 52,961,780 (GRCm39)	F247Y	probably damaging	Het
Zmynd11	A	G	13: 9,745,858 (GRCm39)	V165A	probably 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
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
R7024:Snx15	UTSW	19	6,170,626 (GRCm39)	missense	probably damaging	0.98
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'- ATATGCTACCCAGAGTTTGCCC -3'
(R):5'- TATCTCAGGGTCAGGGAAGG -3'

Sequencing Primer
(F):5'- CAGAGTTTGCCCGGAGAG -3'
(R):5'- GCTCAGTTTGCTCACCTATCAGATAG -3'

Posted On

2015-01-11