Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Snx33'

589704

Institutional Source

Beutler Lab

Gene Symbol

Snx33

Ensembl Gene

ENSMUSG00000032733

Gene Name

sorting nexin 33

Synonyms

Sh3px3, E130307J07Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56917193-56928371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56926418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 122 (D122E)

Ref Sequence

ENSEMBL: ENSMUSP00000060225 (fasta)

Gene Model

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

AlphaFold

Q4VAA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000050916
AA Change: D122E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060225
Gene: ENSMUSG00000032733
AA Change: D122E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	probably benign	Het

Other mutations in Snx33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02261:Snx33	APN	9	56926578	missense	probably benign
IGL02646:Snx33	APN	9	56926759	missense	probably damaging	1.00
IGL03028:Snx33	APN	9	56926451	missense	probably benign
R0206:Snx33	UTSW	9	56926224	missense	probably damaging	1.00
R0755:Snx33	UTSW	9	56925457	missense	possibly damaging	0.84
R1218:Snx33	UTSW	9	56925985	missense	probably damaging	1.00
R1523:Snx33	UTSW	9	56926182	missense	possibly damaging	0.47
R1627:Snx33	UTSW	9	56925957	missense	probably damaging	1.00
R1758:Snx33	UTSW	9	56926698	missense	probably benign	0.29
R1856:Snx33	UTSW	9	56926011	missense	possibly damaging	0.85
R1885:Snx33	UTSW	9	56925837	missense	probably benign	0.42
R2113:Snx33	UTSW	9	56926440	missense	probably benign	0.28
R2422:Snx33	UTSW	9	56918538	missense	probably benign	0.03
R3789:Snx33	UTSW	9	56918560	missense	probably benign	0.00
R3870:Snx33	UTSW	9	56926740	missense	probably benign	0.05
R3871:Snx33	UTSW	9	56926740	missense	probably benign	0.05
R4734:Snx33	UTSW	9	56925901	missense	possibly damaging	0.84
R4884:Snx33	UTSW	9	56926180	missense	probably damaging	0.99
R5069:Snx33	UTSW	9	56926191	missense	probably damaging	0.97
R5555:Snx33	UTSW	9	56925397	missense	probably benign
R6153:Snx33	UTSW	9	56926699	missense	possibly damaging	0.74
R7178:Snx33	UTSW	9	56925867	missense	probably damaging	1.00
R7179:Snx33	UTSW	9	56925867	missense	probably damaging	1.00
R7315:Snx33	UTSW	9	56925867	missense	probably damaging	1.00
R7414:Snx33	UTSW	9	56925867	missense	probably damaging	1.00
R7593:Snx33	UTSW	9	56926774	missense	possibly damaging	0.52
R7607:Snx33	UTSW	9	56926713	missense	probably benign
R8022:Snx33	UTSW	9	56925340	missense	possibly damaging	0.65
R8460:Snx33	UTSW	9	56926192	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAACGATTGAGGTTCCGTCC -3'
(R):5'- CTTCTTACGTCGAGATTGTCCG -3'

Sequencing Primer
(F):5'- GATTGAGGTTCCGTCCTACCACAC -3'
(R):5'- AGATTGTCCGTCCTGGCATCAG -3'

Posted On

2019-10-24