Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01519:Snx13'

89418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx13

Ensembl Gene

ENSMUSG00000020590

Gene Name

sorting nexin 13

Synonyms

RGS-PX1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01519

Quality Score

Status

Chromosome

Chromosomal Location

35097191-35197479 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 35188471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048519] [ENSMUST00000163677]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048519

SMART Domains

Protein: ENSMUSP00000038430
Gene: ENSMUSG00000020590

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	34	51	N/A	INTRINSIC
PXA	98	285	9.09e-102	SMART
coiled coil region	293	320	N/A	INTRINSIC
RGS	374	514	4.63e-32	SMART
low complexity region	546	562	N/A	INTRINSIC
PX	564	677	2.88e-31	SMART
Pfam:Nexin_C	793	903	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163677

SMART Domains

Protein: ENSMUSP00000130182
Gene: ENSMUSG00000020590

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	34	51	N/A	INTRINSIC
PXA	97	284	9.09e-102	SMART
coiled coil region	292	319	N/A	INTRINSIC
RGS	373	513	4.63e-32	SMART
low complexity region	545	561	N/A	INTRINSIC
PX	563	676	2.88e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223056

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are growth retarded and die at midgestation with defects in neural tube closure, vasculogenesis and placental development. Mutant visceral yolk sac endoderm cells exhibit altered endocytic compartments, abundant autophagic vacuoles and mislocalization of endocytic markers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap17b	T	C	X: 35,875,503 (GRCm39)	D668G	probably damaging	Het
Btbd3	A	G	2: 138,121,697 (GRCm39)	M127V	probably benign	Het
Btbd9	T	C	17: 30,518,575 (GRCm39)	T462A	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chd1	G	A	17: 17,598,831 (GRCm39)	G98R	probably damaging	Het
Ckap2	G	A	8: 22,658,914 (GRCm39)	R610C	probably benign	Het
Col18a1	C	T	10: 76,895,157 (GRCm39)	R1168H	probably damaging	Het
Csmd3	G	A	15: 47,460,246 (GRCm39)	T3515I	probably benign	Het
Dcn	A	G	10: 97,319,385 (GRCm39)	Q54R	probably damaging	Het
Dock11	A	G	X: 35,227,006 (GRCm39)	I86V	probably benign	Het
Dram2	T	A	3: 106,478,945 (GRCm39)	I179N	possibly damaging	Het
Fbn1	C	T	2: 125,158,939 (GRCm39)	M2275I	probably benign	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gk2	T	A	5: 97,603,646 (GRCm39)	L397F	probably damaging	Het
Gm8122	T	A	14: 43,092,696 (GRCm39)	I22L	unknown	Het
Golga4	A	G	9: 118,356,160 (GRCm39)	E104G	probably damaging	Het
Herc2	G	A	7: 55,753,698 (GRCm39)	R699H	probably damaging	Het
Hrh1	A	C	6: 114,457,262 (GRCm39)	E181A	probably damaging	Het
Lsm8	T	C	6: 18,851,699 (GRCm39)	F50S	probably damaging	Het
Or1f19	T	A	16: 3,410,398 (GRCm39)	I46N	probably damaging	Het
Pard6g	A	G	18: 80,123,071 (GRCm39)	D35G	probably benign	Het
Plod2	G	A	9: 92,477,348 (GRCm39)	V347I	probably benign	Het
Pramel51	T	C	12: 88,144,331 (GRCm39)	R161G	probably benign	Het
Taf1	T	A	X: 100,606,412 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,313,634 (GRCm39)	Y351C	probably damaging	Het
Tenm4	C	A	7: 96,544,384 (GRCm39)	D2133E	probably damaging	Het
Thap7	A	C	16: 17,346,609 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,306,919 (GRCm39)	S1505T	probably benign	Het
Trav9-2	C	T	14: 53,828,809 (GRCm39)	R60W	probably damaging	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het

Other mutations in Snx13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Snx13	APN	12	35,148,279 (GRCm39)	missense	probably damaging	1.00
IGL01143:Snx13	APN	12	35,182,159 (GRCm39)	missense	probably damaging	0.96
IGL01446:Snx13	APN	12	35,174,479 (GRCm39)	nonsense	probably null
IGL01902:Snx13	APN	12	35,183,306 (GRCm39)	critical splice acceptor site	probably null
IGL01903:Snx13	APN	12	35,135,968 (GRCm39)	missense	probably benign	0.06
IGL02146:Snx13	APN	12	35,151,078 (GRCm39)	missense	probably benign	0.00
IGL02175:Snx13	APN	12	35,182,061 (GRCm39)	missense	possibly damaging	0.83
IGL02197:Snx13	APN	12	35,156,800 (GRCm39)	missense	probably damaging	1.00
IGL02200:Snx13	APN	12	35,136,884 (GRCm39)	missense	probably damaging	1.00
IGL02476:Snx13	APN	12	35,136,940 (GRCm39)	missense	probably damaging	1.00
IGL03171:Snx13	APN	12	35,150,539 (GRCm39)	missense	probably benign	0.28
resistance	UTSW	12	35,162,444 (GRCm39)	missense	probably damaging	1.00
IGL02835:Snx13	UTSW	12	35,182,126 (GRCm39)	missense	possibly damaging	0.48
P0042:Snx13	UTSW	12	35,157,541 (GRCm39)	missense	probably damaging	1.00
R0047:Snx13	UTSW	12	35,151,123 (GRCm39)	splice site	probably benign
R0047:Snx13	UTSW	12	35,151,123 (GRCm39)	splice site	probably benign
R0344:Snx13	UTSW	12	35,136,899 (GRCm39)	nonsense	probably null
R1240:Snx13	UTSW	12	35,141,405 (GRCm39)	missense	probably damaging	0.99
R1335:Snx13	UTSW	12	35,182,123 (GRCm39)	missense	probably benign	0.16
R1451:Snx13	UTSW	12	35,128,983 (GRCm39)	missense	probably benign	0.00
R1617:Snx13	UTSW	12	35,136,895 (GRCm39)	missense	probably damaging	0.99
R2065:Snx13	UTSW	12	35,188,065 (GRCm39)	missense	possibly damaging	0.91
R2111:Snx13	UTSW	12	35,188,084 (GRCm39)	missense	probably damaging	1.00
R2385:Snx13	UTSW	12	35,169,792 (GRCm39)	missense	probably benign	0.36
R2437:Snx13	UTSW	12	35,132,926 (GRCm39)	missense	probably benign	0.14
R2511:Snx13	UTSW	12	35,188,080 (GRCm39)	missense	probably benign	0.13
R2860:Snx13	UTSW	12	35,188,116 (GRCm39)	missense	probably benign	0.45
R2861:Snx13	UTSW	12	35,188,116 (GRCm39)	missense	probably benign	0.45
R2862:Snx13	UTSW	12	35,188,116 (GRCm39)	missense	probably benign	0.45
R2992:Snx13	UTSW	12	35,155,190 (GRCm39)	missense	probably damaging	1.00
R3938:Snx13	UTSW	12	35,194,096 (GRCm39)	missense	probably benign	0.10
R4304:Snx13	UTSW	12	35,172,941 (GRCm39)	missense	probably benign	0.10
R4532:Snx13	UTSW	12	35,194,219 (GRCm39)	missense	probably damaging	0.98
R4692:Snx13	UTSW	12	35,136,917 (GRCm39)	missense	possibly damaging	0.82
R4783:Snx13	UTSW	12	35,148,285 (GRCm39)	missense	probably damaging	1.00
R4914:Snx13	UTSW	12	35,182,032 (GRCm39)	missense	possibly damaging	0.84
R5309:Snx13	UTSW	12	35,194,324 (GRCm39)	nonsense	probably null
R5425:Snx13	UTSW	12	35,150,643 (GRCm39)	nonsense	probably null
R5476:Snx13	UTSW	12	35,156,819 (GRCm39)	splice site	probably null
R5533:Snx13	UTSW	12	35,173,025 (GRCm39)	critical splice donor site	probably null
R5564:Snx13	UTSW	12	35,174,471 (GRCm39)	missense	possibly damaging	0.61
R5572:Snx13	UTSW	12	35,153,119 (GRCm39)	missense	probably damaging	1.00
R5635:Snx13	UTSW	12	35,190,170 (GRCm39)	missense	probably benign	0.00
R6018:Snx13	UTSW	12	35,097,318 (GRCm39)	start gained	probably benign
R6612:Snx13	UTSW	12	35,156,758 (GRCm39)	missense	probably benign	0.19
R6618:Snx13	UTSW	12	35,162,444 (GRCm39)	missense	probably damaging	1.00
R6737:Snx13	UTSW	12	35,190,185 (GRCm39)	missense	probably damaging	0.98
R6964:Snx13	UTSW	12	35,169,788 (GRCm39)	missense	possibly damaging	0.81
R7186:Snx13	UTSW	12	35,142,912 (GRCm39)	missense	probably damaging	0.99
R7372:Snx13	UTSW	12	35,128,950 (GRCm39)	missense	probably benign	0.00
R7429:Snx13	UTSW	12	35,183,357 (GRCm39)	missense	possibly damaging	0.89
R7430:Snx13	UTSW	12	35,183,357 (GRCm39)	missense	possibly damaging	0.89
R7537:Snx13	UTSW	12	35,135,981 (GRCm39)	missense	probably damaging	1.00
R7567:Snx13	UTSW	12	35,136,913 (GRCm39)	missense	probably damaging	1.00
R7582:Snx13	UTSW	12	35,174,534 (GRCm39)	nonsense	probably null
R7767:Snx13	UTSW	12	35,157,483 (GRCm39)	missense	probably damaging	1.00
R7771:Snx13	UTSW	12	35,174,527 (GRCm39)	missense	probably benign
R7838:Snx13	UTSW	12	35,155,174 (GRCm39)	missense	probably benign	0.26
R7901:Snx13	UTSW	12	35,150,624 (GRCm39)	missense	probably benign	0.02
R8029:Snx13	UTSW	12	35,169,885 (GRCm39)	missense	probably damaging	1.00
R8418:Snx13	UTSW	12	35,148,233 (GRCm39)	missense	probably damaging	1.00
R8961:Snx13	UTSW	12	35,155,285 (GRCm39)	missense	probably damaging	1.00
R9197:Snx13	UTSW	12	35,155,196 (GRCm39)	missense	probably benign	0.00
R9372:Snx13	UTSW	12	35,151,048 (GRCm39)	missense	possibly damaging	0.78

Posted On

2013-12-03