Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01394:Snx8'

79365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx8

Ensembl Gene

ENSMUSG00000029560

Gene Name

sorting nexin 8

Synonyms

B130023O14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01394

Quality Score

Status

Chromosome

Chromosomal Location

140326054-140375017 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140337934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 237 (G237V)

Ref Sequence

ENSEMBL: ENSMUSP00000142556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000196020] [ENSMUST00000196130] [ENSMUST00000196566] [ENSMUST00000197880] [ENSMUST00000198945]

AlphaFold

Q8CFD4

Predicted Effect

probably benign
Transcript: ENSMUST00000031539
AA Change: G285V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: G285V

Domain	Start	End	E-Value	Type
low complexity region	7	30	N/A	INTRINSIC
PX	60	173	1.56e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195982

Predicted Effect

probably benign
Transcript: ENSMUST00000196020

SMART Domains

Protein: ENSMUSP00000142491
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
Pfam:PX	1	51	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196130
AA Change: G237V

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

SMART Domains

Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: G237V

Domain	Start	End	E-Value	Type
PX	12	125	9.7e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196566
AA Change: G237V

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

SMART Domains

Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: G237V

Domain	Start	End	E-Value	Type
PX	12	125	9.7e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197880

SMART Domains

Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
Pfam:PX	15	88	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198945

SMART Domains

Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
PX	34	147	9.7e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	A	7: 130,747,960 (GRCm39)	Q11*	probably null	Het
Acot5	T	C	12: 84,122,262 (GRCm39)	I282T	probably benign	Het
Adcy2	A	G	13: 69,130,521 (GRCm39)	V122A	probably damaging	Het
Aldh16a1	A	C	7: 44,794,937 (GRCm39)	S511A	probably benign	Het
Arid3b	T	C	9: 57,702,317 (GRCm39)	E480G	probably damaging	Het
Baz2a	T	C	10: 127,954,514 (GRCm39)	V723A	possibly damaging	Het
Bmpr1b	A	G	3: 141,568,742 (GRCm39)		probably null	Het
Ccdc83	T	C	7: 89,873,209 (GRCm39)	E382G	probably damaging	Het
Cfap46	A	G	7: 139,246,895 (GRCm39)	Y349H	probably damaging	Het
Clpx	T	C	9: 65,217,495 (GRCm39)	V21A	probably damaging	Het
Clstn1	A	G	4: 149,719,239 (GRCm39)	N356S	possibly damaging	Het
Ctnnd1	A	G	2: 84,435,600 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,367,945 (GRCm39)	N505S	probably benign	Het
Eaf2	G	A	16: 36,630,928 (GRCm39)	P82S	probably damaging	Het
Fbxw26	T	C	9: 109,547,057 (GRCm39)	Y456C	probably benign	Het
Foxred2	T	C	15: 77,839,820 (GRCm39)	T157A	probably benign	Het
Fscb	A	T	12: 64,520,578 (GRCm39)	I296K	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,424 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,751,926 (GRCm39)	E3120G	probably damaging	Het
Ift140	A	G	17: 25,313,676 (GRCm39)	D1369G	probably benign	Het
Kcnk13	T	C	12: 100,027,921 (GRCm39)	V332A	probably benign	Het
Lama3	T	A	18: 12,664,983 (GRCm39)	D661E	probably null	Het
Lum	A	T	10: 97,404,834 (GRCm39)	D243V	probably damaging	Het
Mgat4c	A	G	10: 102,220,975 (GRCm39)	T86A	possibly damaging	Het
Mpdz	A	T	4: 81,210,728 (GRCm39)	V1706D	possibly damaging	Het
Myrfl	T	C	10: 116,658,592 (GRCm39)	Q455R	probably benign	Het
Or6k2	T	C	1: 173,986,423 (GRCm39)	F28S	probably damaging	Het
Or8c20	T	A	9: 38,261,101 (GRCm39)	S241T	possibly damaging	Het
Papolg	G	A	11: 23,817,235 (GRCm39)	T654I	probably benign	Het
Pappa2	G	A	1: 158,592,674 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,864,858 (GRCm39)	T82I	probably benign	Het
Prrc2a	A	G	17: 35,372,080 (GRCm39)	V1773A	probably benign	Het
Psmb8	G	T	17: 34,419,703 (GRCm39)	V186L	probably damaging	Het
Rin3	T	C	12: 102,339,862 (GRCm39)	V604A	probably damaging	Het
Rtn1	T	C	12: 72,355,190 (GRCm39)	D252G	probably benign	Het
Sdk1	C	T	5: 141,598,970 (GRCm39)	H212Y	probably benign	Het
Slc5a5	G	T	8: 71,342,032 (GRCm39)	Y307*	probably null	Het
Slc9a9	T	A	9: 95,005,090 (GRCm39)	L499Q	probably benign	Het
Spata18	T	A	5: 73,836,688 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,536,808 (GRCm39)	E417G	possibly damaging	Het
Ubr5	T	C	15: 38,009,875 (GRCm39)	D1034G	possibly damaging	Het
Upf2	A	G	2: 6,045,024 (GRCm39)		probably null	Het
Xrcc6	A	G	15: 81,909,862 (GRCm39)	K89R	possibly damaging	Het
Yeats2	T	C	16: 19,980,782 (GRCm39)	V237A	probably damaging	Het
Zdhhc6	A	G	19: 55,298,324 (GRCm39)	W178R	probably benign	Het
Zfp280b	C	A	10: 75,875,497 (GRCm39)	Q459K	probably damaging	Het
Zfp811	C	A	17: 33,016,794 (GRCm39)	K414N	probably damaging	Het

Other mutations in Snx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Snx8	APN	5	140,343,851 (GRCm39)	missense	probably damaging	1.00
Dickens	UTSW	5	140,343,905 (GRCm39)	missense	probably damaging	1.00
R4247:Snx8	UTSW	5	140,341,800 (GRCm39)	missense	probably damaging	1.00
R4248:Snx8	UTSW	5	140,341,800 (GRCm39)	missense	probably damaging	1.00
R4249:Snx8	UTSW	5	140,341,800 (GRCm39)	missense	probably damaging	1.00
R4250:Snx8	UTSW	5	140,341,800 (GRCm39)	missense	probably damaging	1.00
R4670:Snx8	UTSW	5	140,341,713 (GRCm39)	critical splice donor site	probably null
R4982:Snx8	UTSW	5	140,337,989 (GRCm39)	missense	probably benign	0.06
R5339:Snx8	UTSW	5	140,343,905 (GRCm39)	missense	probably damaging	1.00
R5341:Snx8	UTSW	5	140,343,886 (GRCm39)	missense	probably damaging	1.00
R5755:Snx8	UTSW	5	140,338,796 (GRCm39)	missense	possibly damaging	0.48
R5945:Snx8	UTSW	5	140,339,235 (GRCm39)	missense	probably benign
R7214:Snx8	UTSW	5	140,346,008 (GRCm39)	missense	possibly damaging	0.83
R7527:Snx8	UTSW	5	140,341,827 (GRCm39)	missense	probably benign	0.32
R7851:Snx8	UTSW	5	140,343,914 (GRCm39)	missense	probably damaging	1.00
R7960:Snx8	UTSW	5	140,343,848 (GRCm39)	missense	probably benign	0.00
R8444:Snx8	UTSW	5	140,343,929 (GRCm39)	missense	possibly damaging	0.69

Posted On

2013-11-05