Mutagenetix > Incidental Mutation

Incidental Mutation 'R9340:Snx21'

707425

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 #

R9340 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

164627743-164635736 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

CACCTGCAGGCAGTGCCAGAGCTACGCCAAGCTCCGGACCTGCAGG to CACCTGCAGG at 164633849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133344 (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

SMART Domains

Protein: ENSMUSP00000054137
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
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: ENSMUST00000140519

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,001,647 (GRCm39)	M58L	probably benign	Het
Abca8b	A	G	11: 109,840,939 (GRCm39)	V1078A	probably benign	Het
Acvr2b	A	G	9: 119,257,492 (GRCm39)	D175G	probably damaging	Het
Adad2	A	G	8: 120,339,769 (GRCm39)	M84V	probably benign	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ahsa1	T	C	12: 87,315,053 (GRCm39)	S69P	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Antxr2	G	T	5: 98,086,306 (GRCm39)	P434T	probably damaging	Het
Arap1	T	C	7: 101,037,382 (GRCm39)	Y470H	probably damaging	Het
Baz1a	A	G	12: 54,963,372 (GRCm39)	I907T	probably damaging	Het
Baz1b	A	T	5: 135,246,729 (GRCm39)	Q726L	probably benign	Het
Bcar3	C	T	3: 122,298,462 (GRCm39)		probably benign	Het
Bean1	C	T	8: 104,908,739 (GRCm39)	R39C	probably damaging	Het
Cass4	A	T	2: 172,268,686 (GRCm39)	N256I	possibly damaging	Het
Cnot10	T	C	9: 114,460,897 (GRCm39)	K91R	probably benign	Het
Col6a6	C	T	9: 105,651,757 (GRCm39)	V1085M	probably damaging	Het
Dpf3	A	G	12: 83,534,449 (GRCm39)		probably null	Het
Dync1i2	T	A	2: 71,093,019 (GRCm39)	W605R	probably damaging	Het
Exoc5	A	T	14: 49,286,297 (GRCm39)	V110E	probably damaging	Het
Fgfr2	T	A	7: 129,782,136 (GRCm39)	H563L	probably damaging	Het
Fosl2	A	G	5: 32,304,379 (GRCm39)	T105A	probably benign	Het
Fsip2	A	G	2: 82,818,604 (GRCm39)	H4779R	possibly damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Galnt13	G	A	2: 54,770,161 (GRCm39)	E318K	probably damaging	Het
Hc	G	A	2: 34,876,294 (GRCm39)	T1584I	probably damaging	Het
Helb	T	C	10: 119,928,556 (GRCm39)	K762E	probably damaging	Het
Hspg2	T	G	4: 137,296,827 (GRCm39)	L4335R	probably damaging	Het
Ift88	A	C	14: 57,718,920 (GRCm39)	Q635P	probably damaging	Het
Inpp5a	C	A	7: 138,969,380 (GRCm39)	D25E	probably benign	Het
Kcnu1	A	G	8: 26,376,786 (GRCm39)	T387A	possibly damaging	Het
Lamb1	G	A	12: 31,374,223 (GRCm39)	D1529N	probably benign	Het
Lamb1	A	T	12: 31,374,224 (GRCm39)	D1529V	probably benign	Het
Lnx1	T	C	5: 74,758,584 (GRCm39)	N476S	probably benign	Het
Mup17	T	C	4: 61,512,633 (GRCm39)	M87V	probably benign	Het
Naip6	G	A	13: 100,452,494 (GRCm39)	T189I	probably damaging	Het
Nf1	T	A	11: 79,447,629 (GRCm39)	Y462N	possibly damaging	Het
Nup133	T	C	8: 124,664,881 (GRCm39)	D270G	probably benign	Het
Obox2	T	C	7: 15,130,789 (GRCm39)	L7S	probably damaging	Het
Obox6	A	T	7: 15,567,722 (GRCm39)	S242T	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Pigyl	C	T	9: 22,069,130 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,369,649 (GRCm39)	V891A	probably damaging	Het
Rxrg	A	G	1: 167,458,890 (GRCm39)	D292G	possibly damaging	Het
Saal1	A	G	7: 46,351,248 (GRCm39)	F243L	probably benign	Het
Sec24c	G	A	14: 20,729,598 (GRCm39)	V59M	probably benign	Het
Sema4f	C	A	6: 82,890,890 (GRCm39)	G639V	probably damaging	Het
Serpinb1c	A	T	13: 33,066,172 (GRCm39)	C258S	probably benign	Het
Syndig1	T	C	2: 149,845,175 (GRCm39)	S233P	probably damaging	Het
Taf6l	A	T	19: 8,752,636 (GRCm39)	L377M	probably damaging	Het
Tcl1	T	C	12: 105,184,979 (GRCm39)	Y77C	probably damaging	Het
Tekt2	C	A	4: 126,216,952 (GRCm39)	M272I	probably benign	Het
Trp53bp1	T	C	2: 121,100,460 (GRCm39)	E98G	probably benign	Het
Ubr4	T	A	4: 139,182,763 (GRCm39)	I383N	unknown	Het
Wdr89	G	T	12: 75,679,937 (GRCm39)	P106T	probably benign	Het
Zfp534	T	C	4: 147,758,698 (GRCm39)	E657G	possibly damaging	Het
Zfp69	T	C	4: 120,788,013 (GRCm39)	K434R	probably damaging	Het
Zfyve26	T	A	12: 79,321,680 (GRCm39)	K980*	probably null	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
R9741:Snx21	UTSW	2	164,634,231 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCGAGGTTTTACATCAGCC -3'
(R):5'- AAGGATGGGGTCTCTTGTCC -3'

Sequencing Primer
(F):5'- GAGGTTTTACATCAGCCCTGAC -3'
(R):5'- GGATCCTCCAGCTCCTGATG -3'

Posted On

2022-04-18