Mutagenetix > Incidental Mutation

Incidental Mutation 'R4167:Snx20'

320623

Institutional Source

Beutler Lab

Gene Symbol

Snx20

Ensembl Gene

ENSMUSG00000031662

Gene Name

sorting nexin 20

Synonyms

9130017C17Rik

MMRRC Submission

041008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4167 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89353191-89362756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89354013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 239 (R239Q)

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: R239Q

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034087
Gene: ENSMUSG00000031662
AA Change: R239Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209806

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.5%
20x: 96.0%

Validation Efficiency

94% (31/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casp6	A	G	3: 129,706,993 (GRCm39)	H201R	probably damaging	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Cdh16	A	G	8: 105,344,362 (GRCm39)	L59P	probably benign	Het
Dcp2	T	A	18: 44,529,034 (GRCm39)	Y50N	probably damaging	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Fam78b	T	C	1: 166,829,301 (GRCm39)	V51A	possibly damaging	Het
Gabrb2	A	T	11: 42,312,155 (GRCm39)		probably benign	Het
Glyctk	G	T	9: 106,034,961 (GRCm39)	A35E	probably benign	Het
Kat14	A	G	2: 144,236,030 (GRCm39)	E254G	probably damaging	Het
Kcng1	T	A	2: 168,104,617 (GRCm39)	S410C	probably damaging	Het
Krt74	A	G	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrp12	T	C	15: 39,748,409 (GRCm39)	T70A	probably damaging	Het
Man2c1	A	G	9: 57,045,310 (GRCm39)	D473G	probably benign	Het
Mindy4	G	A	6: 55,201,331 (GRCm39)	G339S	possibly damaging	Het
Naip1	C	T	13: 100,580,794 (GRCm39)	G151D	probably benign	Het
Ndufaf7	G	A	17: 79,252,415 (GRCm39)	V275I	probably benign	Het
Nppb	T	A	4: 148,071,431 (GRCm39)	L121*	probably null	Het
Oog2	A	T	4: 143,922,782 (GRCm39)	Q349L	probably benign	Het
Or5d39	T	C	2: 87,980,189 (GRCm39)	H58R	probably damaging	Het
Or5v1b	T	C	17: 37,840,897 (GRCm39)	S10P	possibly damaging	Het
Pcdhgb8	T	G	18: 37,895,596 (GRCm39)	V222G	possibly damaging	Het
Plcd3	A	T	11: 102,969,290 (GRCm39)	C226S	probably damaging	Het
Plxdc2	A	G	2: 16,570,196 (GRCm39)	E125G	probably damaging	Het
Rnf213	A	G	11: 119,332,069 (GRCm39)	E2426G	probably damaging	Het
Rraga	T	C	4: 86,494,304 (GRCm39)	V50A	possibly damaging	Het
Scmh1	T	C	4: 120,386,473 (GRCm39)		probably benign	Het
Slc9a9	A	G	9: 95,110,952 (GRCm39)	Y590C	probably damaging	Het
Vmn2r59	A	G	7: 41,670,732 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	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
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
R8556:Snx20	UTSW	8	89,356,661 (GRCm39)	missense	probably benign	0.04
R9519:Snx20	UTSW	8	89,354,400 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CTCAAGGGTCACAAGATGGCTC -3'
(R):5'- AGTACCTGCGGCTGCTTTAC -3'

Sequencing Primer
(F):5'- TTGTCCAAAGCCGTCCAG -3'
(R):5'- TCGACTTCCTCACGCGG -3'

Posted On

2015-06-12