Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Snx30'

412580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx30

Ensembl Gene

ENSMUSG00000028385

Gene Name

sorting nexin family member 30

Synonyms

4732481H14Rik, C030041J06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

59805840-59904737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59857452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 55 (I55T)

Ref Sequence

ENSEMBL: ENSMUSP00000030080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030080]

AlphaFold

Q8CE50

Predicted Effect

probably benign
Transcript: ENSMUST00000030080
AA Change: I55T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: I55T

Domain	Start	End	E-Value	Type
low complexity region	59	73	N/A	INTRINSIC
PX	88	206	2.21e-18	SMART
Pfam:BAR	264	432	4e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Ift56	C	T	6: 38,402,166 (GRCm39)	P553S	probably benign	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	Het

Other mutations in Snx30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Snx30	APN	4	59,886,404 (GRCm39)	splice site	probably benign
IGL01397:Snx30	APN	4	59,894,526 (GRCm39)	missense	probably benign	0.29
PIT4366001:Snx30	UTSW	4	59,894,653 (GRCm39)	missense	probably benign	0.45
R1274:Snx30	UTSW	4	59,885,133 (GRCm39)	missense	probably benign	0.16
R1415:Snx30	UTSW	4	59,879,261 (GRCm39)	missense	probably damaging	1.00
R2240:Snx30	UTSW	4	59,886,515 (GRCm39)	missense	probably damaging	1.00
R4459:Snx30	UTSW	4	59,885,022 (GRCm39)	nonsense	probably null
R4460:Snx30	UTSW	4	59,885,022 (GRCm39)	nonsense	probably null
R5279:Snx30	UTSW	4	59,885,070 (GRCm39)	missense	probably benign
R5394:Snx30	UTSW	4	59,879,329 (GRCm39)	missense	probably benign
R5754:Snx30	UTSW	4	59,868,275 (GRCm39)	missense	probably damaging	0.99
R7502:Snx30	UTSW	4	59,894,567 (GRCm39)	missense	possibly damaging	0.50
R7666:Snx30	UTSW	4	59,885,047 (GRCm39)	missense	probably benign	0.30
R8968:Snx30	UTSW	4	59,886,517 (GRCm39)	missense	possibly damaging	0.81
R9515:Snx30	UTSW	4	59,879,241 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02