Mutagenetix > Incidental Mutation

Incidental Mutation 'R8556:Snx20'

660110

Institutional Source

Beutler Lab

Gene Symbol

Snx20

Ensembl Gene

ENSMUSG00000031662

Gene Name

sorting nexin 20

Synonyms

9130017C17Rik

MMRRC Submission

068519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8556 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89353191-89362756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89356661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 52 (M52L)

Ref Sequence

ENSEMBL: ENSMUSP00000034087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034087]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034087
AA Change: M52L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034087
Gene: ENSMUSG00000031662
AA Change: M52L

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
PX	69	184	2.76e-10	SMART
low complexity region	219	234	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010]
PHENOTYPE: Homozygous null mice are viable and healthy with no apparent defects in neutrophil morphology or physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	A	T	11: 69,904,376 (GRCm39)	M148K	probably benign	Het
Adcy2	T	C	13: 68,779,094 (GRCm39)	Y982C	possibly damaging	Het
Adgrl4	T	C	3: 151,216,302 (GRCm39)	I495T	probably damaging	Het
Ankfn1	A	T	11: 89,332,268 (GRCm39)	I426K	possibly damaging	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
Cdan1	C	T	2: 120,553,471 (GRCm39)	V971M	probably damaging	Het
Col6a4	A	G	9: 105,944,252 (GRCm39)	F1074S	probably damaging	Het
Crk	A	G	11: 75,583,347 (GRCm39)	K189R	probably benign	Het
Dennd5b	A	G	6: 148,895,268 (GRCm39)	L1254P	probably damaging	Het
Dlec1	A	G	9: 118,955,289 (GRCm39)	T658A	probably benign	Het
Dock2	T	C	11: 34,212,457 (GRCm39)	D1228G	possibly damaging	Het
Dync2h1	T	C	9: 7,113,198 (GRCm39)	Y209C	probably benign	Het
Edem3	G	A	1: 151,660,586 (GRCm39)	V283I	possibly damaging	Het
Elavl1	A	G	8: 4,345,388 (GRCm39)	S202P	possibly damaging	Het
Eprs1	G	A	1: 185,152,485 (GRCm39)		probably null	Het
Esp31	A	T	17: 38,951,942 (GRCm39)	M1L	probably benign	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Helz2	A	G	2: 180,871,350 (GRCm39)	V2754A	probably damaging	Het
Hgsnat	C	T	8: 26,443,308 (GRCm39)		probably null	Het
Hoxb6	G	T	11: 96,191,543 (GRCm39)	R155L	probably damaging	Het
Igkv6-17	T	C	6: 70,348,746 (GRCm39)	V39A	probably damaging	Het
Iqgap1	G	A	7: 80,375,787 (GRCm39)	L1363F	probably damaging	Het
Lcor	TCA	T	19: 41,546,863 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,382,136 (GRCm39)	S476P	probably damaging	Het
Mdh1b	A	C	1: 63,750,141 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,552,233 (GRCm39)	I4687L	probably benign	Het
Mylk3	T	C	8: 86,053,902 (GRCm39)	M672V	possibly damaging	Het
Nbea	A	G	3: 55,554,807 (GRCm39)	F2614L	probably benign	Het
Or4p8	A	T	2: 88,727,382 (GRCm39)	C186*	probably null	Het
Otop3	T	A	11: 115,235,782 (GRCm39)	D471E	probably benign	Het
Pds5b	G	A	5: 150,716,073 (GRCm39)	M1077I	probably benign	Het
Plppr5	T	A	3: 117,465,679 (GRCm39)	L310Q	probably benign	Het
Ptpn13	G	A	5: 103,707,038 (GRCm39)	E1416K	probably damaging	Het
Ptprj	A	G	2: 90,271,044 (GRCm39)	L1228P	probably damaging	Het
Rbm12	T	C	2: 155,938,481 (GRCm39)	D597G	probably damaging	Het
Ret	A	G	6: 118,146,149 (GRCm39)	F777L	probably damaging	Het
Rrbp1	A	T	2: 143,831,045 (GRCm39)	V374D	possibly damaging	Het
Scin	T	C	12: 40,127,593 (GRCm39)		probably null	Het
Serpina1a	T	A	12: 103,822,229 (GRCm39)	K234N	probably damaging	Het
Svs6	T	C	2: 164,159,485 (GRCm39)	S83P	possibly damaging	Het
Tdp1	T	C	12: 99,857,527 (GRCm39)	S29P	probably benign	Het
Tet1	T	C	10: 62,675,985 (GRCm39)	N697S	probably benign	Het
Trgc4	A	G	13: 19,528,952 (GRCm39)		probably benign	Het
Trpv3	A	G	11: 73,178,291 (GRCm39)	I453V	probably benign	Het
Trrap	T	C	5: 144,762,747 (GRCm39)	F2407L	probably benign	Het
Tsc22d4	T	C	5: 137,745,849 (GRCm39)	S158P	probably damaging	Het
Uaca	A	T	9: 60,777,923 (GRCm39)	K768M	probably damaging	Het
Wdr20rt	G	A	12: 65,273,739 (GRCm39)	V228I	probably benign	Het
Zbtb7b	T	C	3: 89,300,444 (GRCm39)		probably null	Het

Other mutations in Snx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0562:Snx20	UTSW	8	89,356,630 (GRCm39)	missense	probably benign	0.41
R1571:Snx20	UTSW	8	89,356,597 (GRCm39)	missense	probably damaging	1.00
R4167:Snx20	UTSW	8	89,354,013 (GRCm39)	missense	probably benign	0.11
R4198:Snx20	UTSW	8	89,354,226 (GRCm39)	missense	possibly damaging	0.86
R4706:Snx20	UTSW	8	89,354,439 (GRCm39)	missense	probably damaging	1.00
R5907:Snx20	UTSW	8	89,353,923 (GRCm39)	missense	possibly damaging	0.93
R7052:Snx20	UTSW	8	89,356,606 (GRCm39)	missense	probably benign
R7684:Snx20	UTSW	8	89,353,863 (GRCm39)	missense	probably benign	0.43
R8060:Snx20	UTSW	8	89,354,273 (GRCm39)	nonsense	probably null
R9519:Snx20	UTSW	8	89,354,400 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GAAGTGGAAAGCTGTGATCTCCC -3'
(R):5'- TCTAGCTGATGTCCCCACAG -3'

Sequencing Primer
(F):5'- GAAAGCTGTGATCTCCCAAGGC -3'
(R):5'- CACAGGGAGGGTGGCAG -3'

Posted On

2021-01-18