Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Snx33'

589704

Institutional Source

Beutler Lab

Gene Symbol

Snx33

Ensembl Gene

ENSMUSG00000032733

Gene Name

sorting nexin 33

Synonyms

E130307J07Rik, Sh3px3

MMRRC Submission

045720-MU

Accession Numbers

Essential gene?

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

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56824477-56835655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56833702 bp (GRCm39)

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: 141,211,236 (GRCm39)	D924G	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,327,860 (GRCm39)	I97V	possibly damaging	Het
Bach1	A	G	16: 87,517,031 (GRCm39)	D524G	probably benign	Het
Caprin2	T	C	6: 148,784,954 (GRCm39)	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,918,209 (GRCm39)	I207T	probably benign	Het
Cdh11	T	C	8: 103,400,515 (GRCm39)	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,115 (GRCm39)		probably null	Het
Cep83	A	T	10: 94,586,502 (GRCm39)	R433W	probably damaging	Het
Cspg4b	C	A	13: 113,457,420 (GRCm39)	S1155R		Het
D3Ertd751e	A	G	3: 41,708,163 (GRCm39)	E100G	probably benign	Het
Dchs2	C	T	3: 83,255,357 (GRCm39)	A2351V	probably benign	Het
Dhx40	T	C	11: 86,690,263 (GRCm39)	T253A	probably benign	Het
Dqx1	A	G	6: 83,036,680 (GRCm39)	D228G	probably benign	Het
Dync1h1	T	C	12: 110,627,327 (GRCm39)	M4002T	probably benign	Het
Flcn	C	T	11: 59,686,625 (GRCm39)	W376*	probably null	Het
Flnc	A	T	6: 29,446,984 (GRCm39)	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,745,096 (GRCm39)	V9E	probably benign	Het
Fv1	T	A	4: 147,954,392 (GRCm39)	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,361,727 (GRCm39)	G298V	probably benign	Het
Gm5800	T	A	14: 51,953,905 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,709,553 (GRCm39)	M1331T	probably benign	Het
Hyou1	A	G	9: 44,292,433 (GRCm39)		probably null	Het
Igkv1-117	C	A	6: 68,098,792 (GRCm39)	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,282,048 (GRCm39)	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,772,968 (GRCm39)	N754S	probably damaging	Het
Isl2	G	A	9: 55,448,440 (GRCm39)		probably null	Het
Kat2a	G	A	11: 100,599,422 (GRCm39)	Q523*	probably null	Het
Lypd3	T	C	7: 24,337,865 (GRCm39)	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,394,084 (GRCm39)	L297P	probably benign	Het
Naca	T	C	10: 127,876,375 (GRCm39)	V469A	unknown	Het
Notch3	C	T	17: 32,377,480 (GRCm39)	V199I	probably benign	Het
Or4k44	T	C	2: 111,368,521 (GRCm39)	I38V	possibly damaging	Het
Or5b119	T	C	19: 13,456,795 (GRCm39)	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,598,212 (GRCm39)		probably null	Het
Pcdhb8	A	T	18: 37,488,648 (GRCm39)	I109L	probably benign	Het
Pde2a	A	G	7: 101,133,801 (GRCm39)	D104G	possibly damaging	Het
Phip	A	G	9: 82,785,243 (GRCm39)	V824A	probably benign	Het
Plekhg4	T	C	8: 106,106,782 (GRCm39)	Y853H	probably damaging	Het
Plod1	T	C	4: 148,011,481 (GRCm39)	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,953,600 (GRCm39)	Y656N	probably benign	Het
Pogz	G	A	3: 94,763,517 (GRCm39)		probably null	Het
Ppp1r3e	T	A	14: 55,114,526 (GRCm39)	S79C	probably damaging	Het
Pprc1	T	A	19: 46,060,721 (GRCm39)	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,547,783 (GRCm39)	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,507,116 (GRCm39)	V346A	possibly damaging	Het
Rgs12	T	A	5: 35,122,934 (GRCm39)	L239H	probably damaging	Het
Rrp8	T	C	7: 105,385,727 (GRCm39)		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,656,503 (GRCm39)	V792D	unknown	Het
Scrn2	G	T	11: 96,923,968 (GRCm39)	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,423,948 (GRCm39)	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,702,080 (GRCm39)	T434A	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Srebf2	G	T	15: 82,069,497 (GRCm39)	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,155,544 (GRCm39)	V5M	probably benign	Het
Tfg	A	G	16: 56,532,997 (GRCm39)	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,156,060 (GRCm39)	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787 (GRCm39)	K444R	probably benign	Het
Trim25	T	G	11: 88,906,602 (GRCm39)	L446R	probably null	Het
Usp37	T	C	1: 74,507,533 (GRCm39)	T495A	probably benign	Het
Vmn1r94	T	G	7: 19,901,696 (GRCm39)	T203P	probably damaging	Het
Ywhah	T	A	5: 33,184,010 (GRCm39)	M71K	probably benign	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
R3789:Snx33	UTSW	9	56,825,844 (GRCm39)	missense	probably benign	0.00
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
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'- AAACGATTGAGGTTCCGTCC -3'
(R):5'- CTTCTTACGTCGAGATTGTCCG -3'

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

Posted On

2019-10-24