Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Snx1'

511364

Institutional Source

Beutler Lab

Gene Symbol

Snx1

Ensembl Gene

ENSMUSG00000032382

Gene Name

sorting nexin 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4589 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

65995409-66032168 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

TCT to TCTCCT at 66012208 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034946

SMART Domains

Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382

Domain	Start	End	E-Value	Type
Pfam:Sorting_nexin	10	137	2.6e-29	PFAM
PX	140	267	7.59e-40	SMART
Pfam:Vps5	283	516	3.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137542

SMART Domains

Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382

Domain	Start	End	E-Value	Type
Pfam:Sorting_nexin	3	89	6.9e-25	PFAM
PX	92	192	2.37e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146893

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

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. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 76,935,638 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 21,433,919 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,113,518 (GRCm39)		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,814,755 (GRCm39)		probably benign	Homo
Btnl4	T	A	17: 34,691,610 (GRCm39)	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,228,260 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,619,811 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,099,102 (GRCm39)		probably benign	Homo
Chd4	C	T	6: 125,099,096 (GRCm39)	P1597L	probably benign	Homo
Chga	AGC	AGCTGC	12: 102,527,661 (GRCm39)		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,560,357 (GRCm39)		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 47,047,665 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,080,392 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,080,406 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,457 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,730 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,736 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,532,555 (GRCm39)		probably benign	Het
Dcpp1	A	C	17: 24,100,428 (GRCm39)	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	CC	CCTGC	2: 130,612,672 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,665 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 63,000,369 (GRCm39)		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Eps8	AC	ACTCGC	6: 137,494,067 (GRCm39)		probably null	Het
Ermn	TTC	TTCATC	2: 57,938,081 (GRCm39)		probably benign	Het
Fam81b	TC	TCTCC	13: 76,419,442 (GRCm39)		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,526,016 (GRCm39)		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,247 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,356,118 (GRCm39)		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 71,313,636 (GRCm39)		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	AG	AGCCG	10: 104,031,961 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,939 (GRCm39)		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,031,940 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,314,004 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,314,019 (GRCm39)		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,839,024 (GRCm39)		probably benign	Homo
Klra9	C	G	6: 130,159,366 (GRCm39)	D216H	probably benign	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,285,806 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,285,789 (GRCm39)		probably null	Het
Krt10	TCC	TCCGCCGCC	11: 99,280,102 (GRCm39)		probably benign	Het
Las1l	TC	TCTTCCAC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 94,984,225 (GRCm39)		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 94,984,227 (GRCm39)		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 92,925,575 (GRCm39)		probably benign	Homo
Loricrin	GCCGCCGCC	GC	3: 91,989,201 (GRCm39)		probably null	Het
Lrit3	AC	ACATCC	3: 129,597,562 (GRCm39)		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,381,048 (GRCm39)		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,549,753 (GRCm39)		probably benign	Het
Ndufc2	G	C	7: 97,049,497 (GRCm39)	M34I	probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,119,223 (GRCm39)		probably benign	Het
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,006,680 (GRCm39)		probably null	Homo
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,006,679 (GRCm39)		probably null	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,468,295 (GRCm39)		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,571,037 (GRCm39)		probably benign	Homo
Prtg	G	A	9: 72,764,147 (GRCm39)	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,246,817 (GRCm39)		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,164,391 (GRCm39)		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,588,607 (GRCm39)		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 85,682,800 (GRCm39)		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,026,742 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Shf	TCT	TCTGCT	2: 122,184,658 (GRCm39)		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,536,115 (GRCm39)		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,928,793 (GRCm39)		probably benign	Het
Spag17	AGG	AGGGGG	3: 99,963,561 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,574 (GRCm39)		probably benign	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Supt20	A	AGCAGCT	3: 54,635,092 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,635,072 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,076 (GRCm39)		probably benign	Het
Tcof1	GGGTA	G	18: 60,961,722 (GRCm39)		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,796,423 (GRCm39)		probably benign	Het
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,788,230 (GRCm39)		probably null	Homo
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Tob1	CA	CAGCAA	11: 94,105,303 (GRCm39)		probably null	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,149,485 (GRCm39)		probably null	Homo
Trim16	A	AAGC	11: 62,711,521 (GRCm39)		probably benign	Homo
Tsbp1	GCA	GCACCA	17: 34,679,027 (GRCm39)		probably benign	Het
Tsbp1	AGC	AGCCGC	17: 34,679,047 (GRCm39)		probably benign	Het
Tubgcp4	GTGA	G	2: 121,005,944 (GRCm39)		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,223,544 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,197,769 (GRCm39)		probably benign	Het
Vars1	GTGG	GTGGAGTCCTGGTTGG	17: 35,234,964 (GRCm39)		probably benign	Homo
Vmn2r52	C	T	7: 9,892,947 (GRCm39)	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,561,038 (GRCm39)		probably benign	Het
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,561,037 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 109,682,733 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,881,725 (GRCm39)		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,556,394 (GRCm39)		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,753 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,261 (GRCm39)		probably benign	Het
Zfp997	G	A	13: 66,270,022 (GRCm39)	S396N	probably benign	Het

Other mutations in Snx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Snx1	APN	9	65,996,867 (GRCm39)	nonsense	probably null
IGL01015:Snx1	APN	9	66,001,713 (GRCm39)	missense	possibly damaging	0.72
IGL02070:Snx1	APN	9	66,005,731 (GRCm39)	missense	probably damaging	0.97
IGL02225:Snx1	APN	9	66,016,903 (GRCm39)	missense	probably benign	0.03
IGL02984:Snx1	APN	9	65,996,390 (GRCm39)	splice site	probably benign
IGL03069:Snx1	APN	9	66,001,906 (GRCm39)	missense	probably benign
IGL03188:Snx1	APN	9	66,001,734 (GRCm39)	missense	probably damaging	1.00
FR4976:Snx1	UTSW	9	66,012,212 (GRCm39)	small insertion	probably benign
FR4976:Snx1	UTSW	9	66,012,211 (GRCm39)	small insertion	probably benign
R0116:Snx1	UTSW	9	65,995,821 (GRCm39)	nonsense	probably null
R0243:Snx1	UTSW	9	66,008,608 (GRCm39)	splice site	probably benign
R0755:Snx1	UTSW	9	66,005,738 (GRCm39)	missense	probably damaging	1.00
R0981:Snx1	UTSW	9	66,016,841 (GRCm39)	missense	probably benign
R1495:Snx1	UTSW	9	66,003,879 (GRCm39)	missense	probably benign	0.23
R1528:Snx1	UTSW	9	66,016,825 (GRCm39)	missense	probably damaging	1.00
R1725:Snx1	UTSW	9	66,005,611 (GRCm39)	critical splice donor site	probably null
R3752:Snx1	UTSW	9	66,012,933 (GRCm39)	splice site	probably null
R4487:Snx1	UTSW	9	65,996,877 (GRCm39)	missense	possibly damaging	0.90
R4778:Snx1	UTSW	9	66,008,698 (GRCm39)	intron	probably benign
R4975:Snx1	UTSW	9	66,012,187 (GRCm39)	nonsense	probably null
R5043:Snx1	UTSW	9	66,004,718 (GRCm39)	missense	probably benign	0.04
R6346:Snx1	UTSW	9	66,001,930 (GRCm39)	missense	possibly damaging	0.62
R8063:Snx1	UTSW	9	66,004,676 (GRCm39)	unclassified	probably benign
R9679:Snx1	UTSW	9	65,998,002 (GRCm39)	missense	probably benign	0.14
RF045:Snx1	UTSW	9	66,012,204 (GRCm39)	small insertion	probably benign
T0722:Snx1	UTSW	9	66,012,209 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAAGCTTAGTTCCAGGAAAGAC -3'
(R):5'- ACTTGTAGGCATTGGTTCACTG -3'

Sequencing Primer
(F):5'- CTTAGTTCCAGGAAAGACACTGATG -3'
(R):5'- TGAGCACTGAGAAGAACATCTTGAC -3'

Posted On

2018-04-05