Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Snx21'

616349

Institutional Source

Beutler Lab

Gene Symbol

Snx21

Ensembl Gene

ENSMUSG00000050373

Gene Name

sorting nexin family member 21

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164785823-164793816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164786737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 100 (L100P)

Ref Sequence

ENSEMBL: ENSMUSP00000054137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056181] [ENSMUST00000152471] [ENSMUST00000172577] [ENSMUST00000174070]

AlphaFold

Q3UR97

Predicted Effect

probably benign
Transcript: ENSMUST00000056181
AA Change: L100P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373
AA Change: L100P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC
PX	124	232	4.19e-10	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	334	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140519

Predicted Effect

probably benign
Transcript: ENSMUST00000152471
AA Change: L100P

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133914
Gene: ENSMUSG00000050373
AA Change: L100P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172577
AA Change: L100P

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373
AA Change: L100P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174070
AA Change: L100P

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373
AA Change: L100P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	28	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	95	106	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Snx21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Snx21	APN	2	164786220	missense	probably damaging	1.00
IGL02329:Snx21	APN	2	164792390	utr 3 prime	probably benign
R4162:Snx21	UTSW	2	164786850	missense	probably damaging	1.00
R4164:Snx21	UTSW	2	164786850	missense	probably damaging	1.00
R5092:Snx21	UTSW	2	164786746	missense	probably damaging	0.99
R5262:Snx21	UTSW	2	164791821	missense	probably damaging	0.99
R6875:Snx21	UTSW	2	164791902	missense	probably damaging	1.00
R7231:Snx21	UTSW	2	164786201	missense	probably benign	0.00
R7757:Snx21	UTSW	2	164786165	missense	probably damaging	1.00
R8341:Snx21	UTSW	2	164791885	missense	probably damaging	1.00
R8796:Snx21	UTSW	2	164786829	missense	possibly damaging	0.53
R9340:Snx21	UTSW	2	164791929	utr 3 prime	probably benign
R9741:Snx21	UTSW	2	164792311	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCATCCACTGTAAGCCAGG -3'
(R):5'- GGACATCCTTTTATAACTGCATGGC -3'

Sequencing Primer
(F):5'- GCGCTGGGGTGAAGCAC -3'
(R):5'- TTTATAACTGCATGGCCACGAC -3'

Posted On

2020-01-23