Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Snx1'

166377

Institutional Source

Beutler Lab

Gene Symbol

Snx1

Ensembl Gene

ENSMUSG00000032382

Gene Name

sorting nexin 1

Synonyms

MMRRC Submission

039568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65995409-66032168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66016825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 34 (D34G)

Ref Sequence

ENSEMBL: ENSMUSP00000120746 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034946
AA Change: D82G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: D82G

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 damaging
Transcript: ENSMUST00000137542
AA Change: D34G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382
AA Change: D34G

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: ENSMUST00000145449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146893

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,530 (GRCm39)	Q262L	possibly damaging	Het
Abcg4	T	C	9: 44,186,020 (GRCm39)	Y617C	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ano1	T	G	7: 144,149,303 (GRCm39)	S853R	probably damaging	Het
Ap4e1	T	A	2: 126,853,743 (GRCm39)	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,439,693 (GRCm39)	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,940,171 (GRCm39)	D982V	probably damaging	Het
Atxn2	T	C	5: 121,951,593 (GRCm39)	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,847,755 (GRCm39)	C136R	possibly damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Cacna1i	A	G	15: 80,275,975 (GRCm39)		probably null	Het
Ccdc122	T	A	14: 77,305,379 (GRCm39)	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,522,078 (GRCm39)	D90G	probably damaging	Het
Cep104	T	G	4: 154,078,965 (GRCm39)	V323G	probably benign	Het
Chmp6	A	G	11: 119,807,541 (GRCm39)	D128G	probably benign	Het
Clec18a	A	T	8: 111,805,498 (GRCm39)	M201K	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,952,419 (GRCm39)	M493K	probably damaging	Het
Crygd	A	C	1: 65,102,216 (GRCm39)		probably null	Het
Dennd1c	T	C	17: 57,373,935 (GRCm39)	T543A	probably benign	Het
Erbb4	A	T	1: 68,117,741 (GRCm39)	C891*	probably null	Het
Ercc5	A	T	1: 44,217,401 (GRCm39)	K915*	probably null	Het
Ercc6	A	T	14: 32,240,979 (GRCm39)	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,863,384 (GRCm39)	P6T	unknown	Het
Exoc1	A	G	5: 76,697,411 (GRCm39)	K396R	possibly damaging	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Fcsk	A	T	8: 111,609,873 (GRCm39)	L1047Q	probably damaging	Het
Fgf7	T	A	2: 125,877,738 (GRCm39)	M35K	probably damaging	Het
Fras1	G	A	5: 96,784,678 (GRCm39)	G887D	probably damaging	Het
Gbp4	A	T	5: 105,269,658 (GRCm39)		probably null	Het
Homez	A	T	14: 55,095,162 (GRCm39)	M182K	probably benign	Het
Hrnr	G	A	3: 93,230,101 (GRCm39)	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,589,072 (GRCm39)	S83A	probably benign	Het
Ildr2	A	G	1: 166,098,064 (GRCm39)		probably null	Het
Klhdc1	A	T	12: 69,309,972 (GRCm39)	R291S	probably benign	Het
Krt77	T	A	15: 101,769,523 (GRCm39)	I413F	probably damaging	Het
Lipn	A	G	19: 34,046,070 (GRCm39)	I14M	probably damaging	Het
Macf1	T	G	4: 123,369,807 (GRCm39)	R86S	probably benign	Het
Mroh8	C	A	2: 157,071,975 (GRCm39)	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,470,033 (GRCm39)	D1255E	possibly damaging	Het
Nckap5	C	T	1: 125,952,659 (GRCm39)	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,081,723 (GRCm39)	K668E	probably damaging	Het
Nod2	T	C	8: 89,391,217 (GRCm39)	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,450,016 (GRCm39)	M97V	possibly damaging	Het
Nsd3	G	A	8: 26,188,795 (GRCm39)	V43M	probably damaging	Het
Nubp2	A	G	17: 25,103,388 (GRCm39)	V163A	probably damaging	Het
Oas1e	A	T	5: 120,926,054 (GRCm39)	F338Y	probably damaging	Het
Oat	C	A	7: 132,165,998 (GRCm39)	G196C	probably damaging	Het
Or4a69	C	T	2: 89,312,897 (GRCm39)	G194D	probably damaging	Het
Or52e8b	A	T	7: 104,673,971 (GRCm39)	L72Q	probably damaging	Het
Or7a41	T	C	10: 78,871,398 (GRCm39)	L256P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Phf8-ps	A	G	17: 33,286,215 (GRCm39)	S196P	probably damaging	Het
Pja2	C	A	17: 64,616,217 (GRCm39)	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,468,427 (GRCm39)	S332P	probably damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Prdm10	A	G	9: 31,268,582 (GRCm39)	T844A	probably damaging	Het
Ripk1	C	T	13: 34,212,130 (GRCm39)	P480L	probably benign	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,801 (GRCm39)	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,126,110 (GRCm39)	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,349,681 (GRCm39)	L23S	probably benign	Het
Setd5	T	A	6: 113,098,699 (GRCm39)	F758L	probably damaging	Het
Smlr1	C	A	10: 25,411,976 (GRCm39)	V4L	possibly damaging	Het
Spaca5	A	T	X: 20,942,892 (GRCm39)	T92S	probably benign	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Swi5	C	A	2: 32,170,716 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,012,874 (GRCm39)	D2689E	probably benign	Het
Tcof1	T	A	18: 60,948,071 (GRCm39)	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,872,069 (GRCm39)	T49I	probably damaging	Het
Tmx3	T	A	18: 90,555,210 (GRCm39)	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,006,506 (GRCm39)	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,536,989 (GRCm39)	H248Q	probably benign	Het
Ttn	T	C	2: 76,567,412 (GRCm39)	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 139,613,696 (GRCm39)		probably benign	Het
Vwf	A	C	6: 125,585,254 (GRCm39)	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,407,828 (GRCm39)	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,897,292 (GRCm39)	D219G	probably benign	Het
Zc3h6	C	T	2: 128,858,989 (GRCm39)	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,784,050 (GRCm39)		probably null	Het
Zfp369	T	A	13: 65,439,979 (GRCm39)	I221N	probably damaging	Het
Zfp655	A	T	5: 145,181,411 (GRCm39)	N423I	probably damaging	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
FR4589:Snx1	UTSW	9	66,012,208 (GRCm39)	small insertion	probably benign
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
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'- agactctattgtgccaggcttAGACTTT -3'
(R):5'- GACCAACCGACTGCTTCCTTCC -3'

Sequencing Primer
(F):5'- gccaggcttAGACTTTCTAAATTATG -3'
(R):5'- ccaggacagccaggactac -3'

Posted On

2014-04-13