Mutagenetix > Incidental Mutation

Incidental Mutation 'R4557:Snx18'

381250

Institutional Source

Beutler Lab

Gene Symbol

Snx18

Ensembl Gene

ENSMUSG00000042364

Gene Name

sorting nexin 18

Synonyms

Snag1

MMRRC Submission

041784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R4557 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

113728715-113755100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113754364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 190 (S190P)

Ref Sequence

ENSEMBL: ENSMUSP00000104864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109241]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109241
AA Change: S190P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: S190P

Domain	Start	End	E-Value	Type
SH3	3	60	1.04e-14	SMART
low complexity region	61	76	N/A	INTRINSIC
low complexity region	82	105	N/A	INTRINSIC
low complexity region	112	123	N/A	INTRINSIC
low complexity region	141	153	N/A	INTRINSIC
low complexity region	172	182	N/A	INTRINSIC
PX	264	373	8.75e-22	SMART
Pfam:BAR_3_WASP_bdg	377	613	7.1e-111	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224883

Meta Mutation Damage Score

0.0648

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	C	13: 48,667,937 (GRCm39)		probably benign	Het
Acad11	T	C	9: 103,960,038 (GRCm39)	F219L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adamts17	A	T	7: 66,677,641 (GRCm39)	E518D	probably damaging	Het
Adamts3	A	G	5: 89,848,346 (GRCm39)	Y659H	probably benign	Het
Adgrb3	T	C	1: 25,123,360 (GRCm39)	R1414G	probably damaging	Het
Apba1	T	A	19: 23,894,956 (GRCm39)	I464N	probably damaging	Het
Bahcc1	A	G	11: 120,165,914 (GRCm39)	T1057A	probably damaging	Het
Bcl11a	A	G	11: 24,114,004 (GRCm39)	E449G	probably damaging	Het
Ccdc162	T	A	10: 41,463,384 (GRCm39)	I1453L	probably benign	Het
Ccdc175	T	A	12: 72,175,080 (GRCm39)	E531V	probably benign	Het
Cep68	A	T	11: 20,189,113 (GRCm39)		probably benign	Het
Dlgap1	C	A	17: 70,823,684 (GRCm39)	T223K	probably benign	Het
Exoc1	G	A	5: 76,709,290 (GRCm39)	V24M	probably damaging	Het
Fbxo4	A	G	15: 3,995,187 (GRCm39)	*386R	probably null	Het
Gm10100	G	A	10: 77,562,365 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,438,291 (GRCm39)	V622A	probably damaging	Het
Gpr149	A	C	3: 62,511,918 (GRCm39)	M27R	probably benign	Het
Ighv3-6	T	C	12: 114,251,818 (GRCm39)	N101D	probably benign	Het
Igkv4-78	A	G	6: 69,036,755 (GRCm39)	S93P	possibly damaging	Het
Kmt2c	A	T	5: 25,505,313 (GRCm39)	W3332R	probably damaging	Het
Marf1	T	C	16: 13,971,841 (GRCm39)		probably benign	Het
Mcrs1	A	G	15: 99,141,028 (GRCm39)	I459T	probably benign	Het
Mdn1	G	T	4: 32,754,437 (GRCm39)	C4646F	probably damaging	Het
Med17	T	C	9: 15,182,993 (GRCm39)	K351E	possibly damaging	Het
Nalcn	T	C	14: 123,558,647 (GRCm39)		probably benign	Het
Or14j8	C	A	17: 38,263,142 (GRCm39)	A258S	probably benign	Het
Or1e29	G	A	11: 73,667,307 (GRCm39)	T282I	possibly damaging	Het
Or1r1	A	T	11: 73,875,425 (GRCm39)	V3E	probably benign	Het
Or6c69	A	G	10: 129,747,398 (GRCm39)	Y250H	probably damaging	Het
Phrf1	C	T	7: 140,838,842 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,085 (GRCm39)	Q135R	probably benign	Het
Prdm16	T	A	4: 154,613,284 (GRCm39)	M48L	probably benign	Het
Ptpn13	A	G	5: 103,688,976 (GRCm39)	E923G	probably damaging	Het
Rp1	A	T	1: 4,414,886 (GRCm39)	S2075R	possibly damaging	Het
Sft2d2	A	G	1: 165,011,553 (GRCm39)	C114R	probably damaging	Het
Sipa1l2	T	G	8: 126,191,154 (GRCm39)	R945S	probably damaging	Het
Slc12a1	A	G	2: 125,028,561 (GRCm39)	N517S	probably damaging	Het
Slc44a2	T	G	9: 21,258,079 (GRCm39)	L443R	possibly damaging	Het
Smok4a	T	C	17: 13,746,643 (GRCm39)		noncoding transcript	Het
Thap12	A	G	7: 98,365,052 (GRCm39)	N407D	probably benign	Het
Tmc5	T	C	7: 118,269,956 (GRCm39)	I902T	probably benign	Het
Ttc27	T	G	17: 75,136,544 (GRCm39)	S584A	probably benign	Het
Ttn	A	T	2: 76,779,359 (GRCm39)	Y1174N	probably damaging	Het
Zbtb44	T	G	9: 30,975,544 (GRCm39)	S391R	probably damaging	Het

Other mutations in Snx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Snx18	APN	13	113,754,052 (GRCm39)	missense	probably benign	0.13
IGL02068:Snx18	APN	13	113,753,601 (GRCm39)	missense	probably damaging	1.00
IGL02195:Snx18	APN	13	113,753,376 (GRCm39)	missense	probably damaging	0.99
IGL02541:Snx18	APN	13	113,731,302 (GRCm39)	missense	probably damaging	0.98
R2419:Snx18	UTSW	13	113,753,755 (GRCm39)	missense	possibly damaging	0.52
R2958:Snx18	UTSW	13	113,753,422 (GRCm39)	nonsense	probably null
R3010:Snx18	UTSW	13	113,753,422 (GRCm39)	nonsense	probably null
R3011:Snx18	UTSW	13	113,753,422 (GRCm39)	nonsense	probably null
R4461:Snx18	UTSW	13	113,753,731 (GRCm39)	missense	probably damaging	1.00
R4732:Snx18	UTSW	13	113,754,310 (GRCm39)	missense	probably benign	0.04
R4733:Snx18	UTSW	13	113,754,310 (GRCm39)	missense	probably benign	0.04
R5308:Snx18	UTSW	13	113,753,383 (GRCm39)	nonsense	probably null
R6157:Snx18	UTSW	13	113,753,725 (GRCm39)	missense	probably damaging	1.00
R6995:Snx18	UTSW	13	113,731,265 (GRCm39)	missense	probably damaging	0.99
R8092:Snx18	UTSW	13	113,753,685 (GRCm39)	missense	probably damaging	1.00
R8253:Snx18	UTSW	13	113,731,317 (GRCm39)	missense	probably damaging	1.00
R8924:Snx18	UTSW	13	113,754,931 (GRCm39)	start codon destroyed	probably benign	0.30
R9098:Snx18	UTSW	13	113,754,310 (GRCm39)	missense	probably benign	0.04
R9363:Snx18	UTSW	13	113,754,732 (GRCm39)	missense	probably benign	0.25
R9547:Snx18	UTSW	13	113,753,754 (GRCm39)	missense	possibly damaging	0.92
R9776:Snx18	UTSW	13	113,754,039 (GRCm39)	missense	probably benign	0.18
Z1177:Snx18	UTSW	13	113,754,681 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TCATGCCCTTGAACTTGGTC -3'
(R):5'- AGCAGCTCTACGGTGGATAC -3'

Sequencing Primer
(F):5'- CGTCGATGGTGCACTGGAAG -3'
(R):5'- TGGATACCAGGCCAGCC -3'

Posted On

2016-04-22