Mutagenetix > Incidental Mutation

Incidental Mutation 'R9741:Snx21'

731823

Institutional Source

Beutler Lab

Gene Symbol

Snx21

Ensembl Gene

ENSMUSG00000050373

Gene Name

sorting nexin family member 21

Synonyms

5730407K14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9741 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164627743-164635736 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164634231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 339 (A339V)

Ref Sequence

ENSEMBL: ENSMUSP00000054137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017451] [ENSMUST00000056181] [ENSMUST00000103094] [ENSMUST00000134611] [ENSMUST00000152471] [ENSMUST00000172577] [ENSMUST00000174070]

AlphaFold

Q3UR97

Predicted Effect

probably benign
Transcript: ENSMUST00000017451

SMART Domains

Protein: ENSMUSP00000017451
Gene: ENSMUSG00000017307

Domain	Start	End	E-Value	Type
Pfam:Acyl_CoA_thio	38	132	4.6e-9	PFAM
Pfam:4HBT_3	45	255	8.8e-30	PFAM
Pfam:Acyl_CoA_thio	180	253	2.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056181
AA Change: A339V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373
AA Change: A339V

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: ENSMUST00000103094

SMART Domains

Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307

Domain	Start	End	E-Value	Type
Pfam:Acyl_CoA_thio	39	132	5e-9	PFAM
Pfam:4HBT_3	45	309	2.7e-44	PFAM
Pfam:Acyl_CoA_thio	180	308	5.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134611

SMART Domains

Protein: ENSMUSP00000133718
Gene: ENSMUSG00000017307

Domain	Start	End	E-Value	Type
low complexity region	79	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152471

SMART Domains

Protein: ENSMUSP00000133914
Gene: ENSMUSG00000050373

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

SMART Domains

Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373

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

SMART Domains

Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,860,339 (GRCm39)	K35*	probably null	Het
Apoc3	G	T	9: 46,145,998 (GRCm39)	T5K	unknown	Het
Arhgap20	T	A	9: 51,760,730 (GRCm39)	Y860*	probably null	Het
Arhgef11	T	C	3: 87,595,156 (GRCm39)	S123P	probably benign	Het
Armh4	A	G	14: 50,008,081 (GRCm39)	I464T	probably benign	Het
Axdnd1	T	A	1: 156,169,385 (GRCm39)	Y827F	probably benign	Het
Bbs5	A	G	2: 69,484,695 (GRCm39)	T122A	probably benign	Het
Btbd6	T	A	12: 112,940,923 (GRCm39)	D173E	probably benign	Het
Cblb	T	C	16: 51,932,490 (GRCm39)	I149T	probably damaging	Het
Cyp2ab1	G	A	16: 20,132,953 (GRCm39)	R214C	probably damaging	Het
Dbn1	C	T	13: 55,624,114 (GRCm39)	S372N	possibly damaging	Het
Dlg1	T	A	16: 31,676,735 (GRCm39)	Y776*	probably null	Het
Dock9	A	T	14: 121,877,516 (GRCm39)	I409N	probably damaging	Het
Ect2	A	T	3: 27,156,607 (GRCm39)	N815K	probably benign	Het
Fbxw11	G	T	11: 32,685,358 (GRCm39)	V398L	probably damaging	Het
Gcsam	T	C	16: 45,436,319 (GRCm39)	F34S	possibly damaging	Het
Ghsr	G	A	3: 27,428,898 (GRCm39)	V308I	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
H1f10	A	G	6: 87,958,200 (GRCm39)	Y47H	probably damaging	Het
Hspg2	T	C	4: 137,239,962 (GRCm39)	F510S	probably damaging	Het
Htr1a	T	C	13: 105,581,861 (GRCm39)	V367A	possibly damaging	Het
Iars1	T	G	13: 49,844,978 (GRCm39)	F163C	probably damaging	Het
Igfn1	T	C	1: 135,895,383 (GRCm39)	T1728A	probably benign	Het
Ighv7-3	C	T	12: 114,116,995 (GRCm39)	V56I	probably benign	Het
Lrp1b	A	T	2: 41,002,300 (GRCm39)	I2133N		Het
Lrrc37	T	C	11: 103,504,255 (GRCm39)	E2571G	possibly damaging	Het
Or2d2	A	G	7: 106,728,366 (GRCm39)	V78A	possibly damaging	Het
Or52z1	G	T	7: 103,436,941 (GRCm39)	P181H	probably benign	Het
Pkd1l1	T	C	11: 8,897,224 (GRCm39)	T562A		Het
Ppp1r10	G	A	17: 36,237,331 (GRCm39)	R167Q	possibly damaging	Het
Ppp1r13l	C	T	7: 19,103,725 (GRCm39)	R69W	probably damaging	Het
Proser2	G	A	2: 6,105,580 (GRCm39)	A328V	probably benign	Het
Rhou	A	G	8: 124,380,914 (GRCm39)	Y77C	possibly damaging	Het
Rprml	T	A	11: 103,540,857 (GRCm39)	L84Q	probably damaging	Het
Ryr3	C	T	2: 112,477,271 (GRCm39)	C4515Y	probably benign	Het
Slc9a3	T	A	13: 74,306,994 (GRCm39)	I373N	possibly damaging	Het
Srpk1	G	A	17: 28,818,652 (GRCm39)	P395S	probably benign	Het
Syt14	A	T	1: 192,666,449 (GRCm39)	S152T	unknown	Het
Urb2	G	T	8: 124,755,751 (GRCm39)	R486L	probably damaging	Het
Utrn	T	A	10: 12,702,564 (GRCm39)	M7L	probably benign	Het
Vmn2r59	T	A	7: 41,708,209 (GRCm39)	D66V	probably damaging	Het
Znrf2	T	C	6: 54,855,370 (GRCm39)	I197T	probably damaging	Het

Other mutations in Snx21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Snx21	APN	2	164,628,140 (GRCm39)	missense	probably damaging	1.00
IGL02329:Snx21	APN	2	164,634,310 (GRCm39)	utr 3 prime	probably benign
R4162:Snx21	UTSW	2	164,628,770 (GRCm39)	missense	probably damaging	1.00
R4164:Snx21	UTSW	2	164,628,770 (GRCm39)	missense	probably damaging	1.00
R5092:Snx21	UTSW	2	164,628,666 (GRCm39)	missense	probably damaging	0.99
R5262:Snx21	UTSW	2	164,633,741 (GRCm39)	missense	probably damaging	0.99
R6875:Snx21	UTSW	2	164,633,822 (GRCm39)	missense	probably damaging	1.00
R7231:Snx21	UTSW	2	164,628,121 (GRCm39)	missense	probably benign	0.00
R7757:Snx21	UTSW	2	164,628,085 (GRCm39)	missense	probably damaging	1.00
R8001:Snx21	UTSW	2	164,628,657 (GRCm39)	missense	probably benign	0.03
R8341:Snx21	UTSW	2	164,633,805 (GRCm39)	missense	probably damaging	1.00
R8796:Snx21	UTSW	2	164,628,749 (GRCm39)	missense	possibly damaging	0.53
R9340:Snx21	UTSW	2	164,633,849 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCGTGAGGCTCTGGCATTG -3'
(R):5'- TACTCAATAGGCTCCCAGCTG -3'

Sequencing Primer
(F):5'- AGCTGCAGACCCAGTTGG -3'
(R):5'- AATAGGCTCCCAGCTGCTGTG -3'

Posted On

2022-11-14