Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02175:Snx13'

283060

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 #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

35097191-35197479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35182061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 703 (N703K)

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
AA Change: N703K

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038430
Gene: ENSMUSG00000020590
AA Change: N703K

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

possibly damaging
Transcript: ENSMUST00000163677
AA Change: N703K

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130182
Gene: ENSMUSG00000020590
AA Change: N703K

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,261,642 (GRCm39)		probably null	Het
Adgrf5	A	G	17: 43,761,901 (GRCm39)	I1199V	probably damaging	Het
Atm	T	A	9: 53,391,965 (GRCm39)	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092 (GRCm38)	V942M	probably damaging	Het
Capns1	T	C	7: 29,889,957 (GRCm39)	D116G	probably benign	Het
Ccdc110	T	G	8: 46,393,660 (GRCm39)	M124R	probably benign	Het
Cdh23	T	C	10: 60,167,087 (GRCm39)	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,377,129 (GRCm39)	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548 (GRCm39)	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,780,301 (GRCm39)	A1044V	probably damaging	Het
Egr1	T	C	18: 34,996,108 (GRCm39)	S297P	probably benign	Het
Ercc6l2	T	C	13: 64,017,004 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,563,020 (GRCm39)	A496T	possibly damaging	Het
Hook2	T	A	8: 85,718,031 (GRCm39)	W53R	probably damaging	Het
Med19	T	A	2: 84,509,007 (GRCm39)		probably null	Het
Mgrn1	A	G	16: 4,738,232 (GRCm39)	N262S	probably benign	Het
Nbas	T	G	12: 13,616,260 (GRCm39)		probably null	Het
Ndc80	A	C	17: 71,818,414 (GRCm39)	M314R	probably benign	Het
Nelfcd	A	T	2: 174,262,175 (GRCm39)	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,174,522 (GRCm39)	E969D	probably damaging	Het
Ntrk3	A	G	7: 77,896,976 (GRCm39)	V687A	probably damaging	Het
Oc90	A	C	15: 65,755,674 (GRCm39)	S224R	possibly damaging	Het
Or4a69	T	C	2: 89,312,626 (GRCm39)	I284M	possibly damaging	Het
Plxnb1	C	T	9: 108,929,914 (GRCm39)	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,741,419 (GRCm39)	V579A	probably damaging	Het
Rarres1	T	C	3: 67,403,089 (GRCm39)	N104S	probably benign	Het
Serpina1d	T	C	12: 103,731,955 (GRCm39)		probably null	Het
Sik2	G	A	9: 50,806,909 (GRCm39)	Q834*	probably null	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Spaca9	T	C	2: 28,585,936 (GRCm39)	I43V	probably benign	Het
Tor1aip2	T	C	1: 155,940,752 (GRCm39)	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,324,235 (GRCm39)	S361P	probably benign	Het
Trpm2	T	C	10: 77,773,741 (GRCm39)	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,614,774 (GRCm39)	C127R	probably damaging	Het
Zfp879	A	T	11: 50,728,743 (GRCm39)	Y84N	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
IGL01519:Snx13	APN	12	35,188,471 (GRCm39)	unclassified	probably benign
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
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

2015-04-16