Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Snx15'

632452

Institutional Source

Beutler Lab

Gene Symbol

Snx15

Ensembl Gene

ENSMUSG00000024787

Gene Name

sorting nexin 15

Synonyms

E130013C21Rik, 1500032B08Rik

MMRRC Submission

067567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8139 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

6169429-6178334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6169945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 321 (K321T)

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: K321T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: K321T

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
AA Change: K235T

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: K235T

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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. 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	T	X: 69,438,120 (GRCm39)	Q58K	possibly damaging	Het
Aamdc	T	C	7: 97,214,450 (GRCm39)	M42V	probably benign	Het
Abca6	T	A	11: 110,074,959 (GRCm39)	Q1368L	probably damaging	Het
Best3	G	A	10: 116,840,331 (GRCm39)	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,602,697 (GRCm39)	I1478N	probably damaging	Het
Ccdc113	T	A	8: 96,285,366 (GRCm39)	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 179,896,884 (GRCm39)	H389L	probably damaging	Het
Cnn3	G	T	3: 121,248,718 (GRCm39)	M208I	probably damaging	Het
Col11a1	A	G	3: 113,890,698 (GRCm39)	D345G	unknown	Het
Degs1l	A	G	1: 180,882,358 (GRCm39)	D40G	probably damaging	Het
Dnah14	G	T	1: 181,582,853 (GRCm39)	V3131F	probably damaging	Het
Dst	T	A	1: 34,230,933 (GRCm39)	M2842K	probably benign	Het
Dus3l	C	T	17: 57,074,058 (GRCm39)	Q211*	probably null	Het
Eftud2	A	G	11: 102,758,685 (GRCm39)	F171S	probably benign	Het
Elac2	T	C	11: 64,871,440 (GRCm39)	I117T	probably benign	Het
Fam13b	A	G	18: 34,606,686 (GRCm39)	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,916,087 (GRCm39)	Q442*	probably null	Het
Fhdc1	A	G	3: 84,358,790 (GRCm39)	S370P	probably damaging	Het
Gtf3c6	T	C	10: 40,133,469 (GRCm39)		probably null	Het
I830077J02Rik	A	G	3: 105,835,314 (GRCm39)	V21A	probably benign	Het
Inf2	G	T	12: 112,568,074 (GRCm39)	E209*	probably null	Het
Irag1	A	G	7: 110,498,879 (GRCm39)		probably null	Het
Irs1	A	T	1: 82,267,460 (GRCm39)	M252K	probably damaging	Het
Kcng3	C	A	17: 83,938,516 (GRCm39)	V178L	probably damaging	Het
Kif16b	A	C	2: 142,743,285 (GRCm39)	S3A	probably benign	Het
Kit	T	C	5: 75,813,465 (GRCm39)	M884T	probably damaging	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Kptn	T	C	7: 15,857,901 (GRCm39)	I243T	probably benign	Het
Loxhd1	G	A	18: 77,468,192 (GRCm39)	E947K	possibly damaging	Het
Lyl1	A	T	8: 85,429,476 (GRCm39)	I62L	probably damaging	Het
Mmp24	C	T	2: 155,655,965 (GRCm39)	R468*	probably null	Het
Mtx2	G	A	2: 74,706,714 (GRCm39)	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,757 (GRCm39)	Y28*	probably null	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Nrxn3	A	G	12: 90,171,438 (GRCm39)	N923S	probably benign	Het
Ogfod2	C	T	5: 124,251,538 (GRCm39)	T116M	possibly damaging	Het
Oosp1	T	C	19: 11,645,118 (GRCm39)	E182G	possibly damaging	Het
Or4c115	A	G	2: 88,928,187 (GRCm39)	V28A	probably benign	Het
Or5p67	T	A	7: 107,922,113 (GRCm39)	T257S	probably benign	Het
Or7g20	A	T	9: 18,946,871 (GRCm39)	I151F	probably benign	Het
Or7g28	A	C	9: 19,272,504 (GRCm39)	V49G	probably damaging	Het
Oxnad1	C	A	14: 31,814,048 (GRCm39)	T47K	possibly damaging	Het
Pcdha5	A	G	18: 37,095,791 (GRCm39)	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,604,309 (GRCm39)	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,341 (GRCm39)	H763L	possibly damaging	Het
Plec	T	C	15: 76,058,510 (GRCm39)	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,074,430 (GRCm39)	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,228,266 (GRCm39)	V1090A	probably benign	Het
Ptgdr	T	C	14: 45,096,142 (GRCm39)	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,665,189 (GRCm39)	C173*	probably null	Het
Rhobtb1	C	A	10: 69,102,120 (GRCm39)	P134T	probably damaging	Het
Slc25a36	A	T	9: 96,962,505 (GRCm39)	F161L	probably benign	Het
Slc5a11	A	G	7: 122,869,199 (GRCm39)	T596A	probably benign	Het
Slco1a6	T	C	6: 142,035,626 (GRCm39)	Y566C	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Syt8	T	C	7: 141,992,005 (GRCm39)	I32T	probably benign	Het
Thumpd1	T	C	7: 119,319,808 (GRCm39)	N53D	possibly damaging	Het
Timm21	T	C	18: 84,969,263 (GRCm39)	T54A	probably benign	Het
Tmed10	A	G	12: 85,391,091 (GRCm39)	V149A	probably damaging	Het
Tmem108	T	A	9: 103,377,084 (GRCm39)	M122L	probably benign	Het
Tram1l1	A	G	3: 124,115,436 (GRCm39)	I199V	probably benign	Het
Tspan8	A	G	10: 115,675,802 (GRCm39)	N156S	probably benign	Het
Vamp9	A	G	5: 100,072,785 (GRCm39)	I111V	probably benign	Het
Vars1	T	C	17: 35,230,480 (GRCm39)	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,349,743 (GRCm39)	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Vps33a	T	C	5: 123,672,015 (GRCm39)	K451R	probably benign	Het
Vsig10l	T	C	7: 43,113,153 (GRCm39)	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,332,660 (GRCm39)	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013 (GRCm39)	E315G	probably benign	Het
Zfp467	C	T	6: 48,416,268 (GRCm39)	G128D	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
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
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
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'- TAATTCCAAGGAGGCAGGC -3'
(R):5'- ACACTGGGCAGAATTTTCCC -3'

Sequencing Primer
(F):5'- TCAGAGCTGAGAAGTCTTTGC -3'
(R):5'- TGAATGTAGGTGGGCCAT -3'

Posted On

2020-06-30