Mutagenetix > Incidental Mutation

Incidental Mutation 'R3789:Snx33'

272442

Institutional Source

Beutler Lab

Gene Symbol

Snx33

Ensembl Gene

ENSMUSG00000032733

Gene Name

sorting nexin 33

Synonyms

E130307J07Rik, Sh3px3

MMRRC Submission

041604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3789 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

56824477-56835655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56825844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 539 (E539G)

Ref Sequence

ENSEMBL: ENSMUSP00000060225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050916]

AlphaFold

Q4VAA7

Predicted Effect

probably benign
Transcript: ENSMUST00000050916
AA Change: E539G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000060225
Gene: ENSMUSG00000032733
AA Change: E539G

Domain	Start	End	E-Value	Type
SH3	3	60	3.2e-15	SMART
low complexity region	111	122	N/A	INTRINSIC
PX	227	336	6.69e-18	SMART
Pfam:BAR_3_WASP_bdg	337	572	1.1e-113	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Acvrl1	C	T	15: 101,035,350 (GRCm39)	T292M	probably damaging	Het
Adamts8	T	C	9: 30,870,588 (GRCm39)	S688P	probably damaging	Het
Adprs	A	T	4: 126,210,544 (GRCm39)	I312N	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Clca4a	C	A	3: 144,680,717 (GRCm39)	G20V	probably damaging	Het
Col12a1	C	A	9: 79,547,005 (GRCm39)	V2276L	possibly damaging	Het
Cstdc2	C	A	2: 148,689,878 (GRCm39)	E92*	probably null	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,476,942 (GRCm39)		probably null	Het
Emc8	T	C	8: 121,384,869 (GRCm39)	T195A	probably benign	Het
Frs3	G	A	17: 48,010,621 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,813,058 (GRCm39)	S640P	probably damaging	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,955,613 (GRCm39)	S1310P	probably damaging	Het
Hltf	C	T	3: 20,123,211 (GRCm39)	P200S	probably damaging	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lrp1	T	C	10: 127,407,838 (GRCm39)	D1817G	possibly damaging	Het
Lrpprc	T	C	17: 85,078,956 (GRCm39)	I253V	probably benign	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Mcm9	G	A	10: 53,492,113 (GRCm39)	R403W	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Or56b2j	T	A	7: 104,353,156 (GRCm39)	D127E	probably damaging	Het
Pclo	A	G	5: 14,730,464 (GRCm39)		probably benign	Het
Plekha7	A	C	7: 115,774,969 (GRCm39)	I175R	probably damaging	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Rexo2	A	G	9: 48,384,362 (GRCm39)	I139T	probably damaging	Het
Rsbn1l	A	C	5: 21,101,106 (GRCm39)	S811R	probably benign	Het
Sec24b	T	C	3: 129,814,276 (GRCm39)	D345G	probably benign	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Sorcs3	A	G	19: 48,387,150 (GRCm39)	T212A	possibly damaging	Het
Spa17	T	G	9: 37,523,141 (GRCm39)	K49Q	possibly damaging	Het
St3gal6	C	T	16: 58,305,136 (GRCm39)	E109K	probably benign	Het
Stat4	A	G	1: 52,050,955 (GRCm39)	N5D	probably benign	Het
Tmem232	C	T	17: 65,689,520 (GRCm39)	D532N	probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tmem81	A	G	1: 132,435,809 (GRCm39)	N205S	probably benign	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r23	A	T	6: 123,718,348 (GRCm39)	N567I	probably damaging	Het

Other mutations in Snx33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02261:Snx33	APN	9	56,833,862 (GRCm39)	missense	probably benign
IGL02646:Snx33	APN	9	56,834,043 (GRCm39)	missense	probably damaging	1.00
IGL03028:Snx33	APN	9	56,833,735 (GRCm39)	missense	probably benign
R0206:Snx33	UTSW	9	56,833,508 (GRCm39)	missense	probably damaging	1.00
R0755:Snx33	UTSW	9	56,832,741 (GRCm39)	missense	possibly damaging	0.84
R1218:Snx33	UTSW	9	56,833,269 (GRCm39)	missense	probably damaging	1.00
R1523:Snx33	UTSW	9	56,833,466 (GRCm39)	missense	possibly damaging	0.47
R1627:Snx33	UTSW	9	56,833,241 (GRCm39)	missense	probably damaging	1.00
R1758:Snx33	UTSW	9	56,833,982 (GRCm39)	missense	probably benign	0.29
R1856:Snx33	UTSW	9	56,833,295 (GRCm39)	missense	possibly damaging	0.85
R1885:Snx33	UTSW	9	56,833,121 (GRCm39)	missense	probably benign	0.42
R2113:Snx33	UTSW	9	56,833,724 (GRCm39)	missense	probably benign	0.28
R2422:Snx33	UTSW	9	56,825,822 (GRCm39)	missense	probably benign	0.03
R3870:Snx33	UTSW	9	56,834,024 (GRCm39)	missense	probably benign	0.05
R3871:Snx33	UTSW	9	56,834,024 (GRCm39)	missense	probably benign	0.05
R4734:Snx33	UTSW	9	56,833,185 (GRCm39)	missense	possibly damaging	0.84
R4884:Snx33	UTSW	9	56,833,464 (GRCm39)	missense	probably damaging	0.99
R5069:Snx33	UTSW	9	56,833,475 (GRCm39)	missense	probably damaging	0.97
R5555:Snx33	UTSW	9	56,832,681 (GRCm39)	missense	probably benign
R6153:Snx33	UTSW	9	56,833,983 (GRCm39)	missense	possibly damaging	0.74
R7178:Snx33	UTSW	9	56,833,151 (GRCm39)	missense	probably damaging	1.00
R7179:Snx33	UTSW	9	56,833,151 (GRCm39)	missense	probably damaging	1.00
R7315:Snx33	UTSW	9	56,833,151 (GRCm39)	missense	probably damaging	1.00
R7414:Snx33	UTSW	9	56,833,151 (GRCm39)	missense	probably damaging	1.00
R7593:Snx33	UTSW	9	56,834,058 (GRCm39)	missense	possibly damaging	0.52
R7607:Snx33	UTSW	9	56,833,997 (GRCm39)	missense	probably benign
R7632:Snx33	UTSW	9	56,833,702 (GRCm39)	missense	probably damaging	0.98
R8022:Snx33	UTSW	9	56,832,624 (GRCm39)	missense	possibly damaging	0.65
R8460:Snx33	UTSW	9	56,833,476 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCCACTGCTAATGACAGGAG -3'
(R):5'- AATACGCCTGTCATTCACCCTG -3'

Sequencing Primer
(F):5'- CTGCTAATGACAGGAGTGGAATAGAC -3'
(R):5'- GGAGATACAAGCCCTGACCTG -3'

Posted On

2015-03-25