Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Snx13'

32985

Institutional Source

Beutler Lab

Gene Symbol

Snx13

Ensembl Gene

ENSMUSG00000020590

Gene Name

sorting nexin 13

Synonyms

RGS-PX1

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

196

Status

Validated (trace)

Chromosome

Chromosomal Location

35097191-35197479 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 35151123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048519] [ENSMUST00000163677] [ENSMUST00000221272]

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

probably benign
Transcript: ENSMUST00000221272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221876

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCGGTGATGGTAAGTGAGTCTC -3'
(R):5'- TACACATGAGCAGTGCAGGCACAC -3'

Sequencing Primer
(F):5'- GAGTCTCTTCAAGGATTACCTTAGC -3'
(R):5'- GTGCAGGCACACACATGC -3'

Posted On

2013-05-09