Mutagenetix > Incidental Mutation

Incidental Mutation 'R9363:Snx18'

726307

Institutional Source

Beutler Lab

Gene Symbol

Snx18

Ensembl Gene

ENSMUSG00000042364

Gene Name

sorting nexin 18

Synonyms

Snag1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R9363 (G1)

Quality Score

67.0074

Status

Validated

Chromosome

Chromosomal Location

113728715-113755100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113754732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 67 (P67L)

Ref Sequence

ENSEMBL: ENSMUSP00000104864 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109241
AA Change: P67L

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: P67L

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (40/40)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Alkbh1	A	T	12: 87,487,080 (GRCm39)	Y96*	probably null	Het
Alkbh8	T	A	9: 3,385,576 (GRCm39)	C658S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Blm	T	C	7: 80,108,663 (GRCm39)	Y1327C	probably damaging	Het
Ccdc28a	C	T	10: 18,094,050 (GRCm39)	D190N	unknown	Het
Chdh	A	G	14: 29,753,310 (GRCm39)	E73G	probably damaging	Het
Dab2	C	T	15: 6,460,481 (GRCm39)	P463L	probably benign	Het
Dcun1d2	A	G	8: 13,309,014 (GRCm39)	Y184H	probably benign	Het
Dst	T	C	1: 34,235,060 (GRCm39)	L3535P	probably damaging	Het
Egr3	A	G	14: 70,316,761 (GRCm39)	I153V	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Jkampl	T	A	6: 73,446,487 (GRCm39)	I21F	possibly damaging	Het
Mdc1	C	A	17: 36,162,019 (GRCm39)	Q942K	probably benign	Het
Med15	C	T	16: 17,489,414 (GRCm39)	V387I	unknown	Het
Muc4	C	T	16: 32,576,992 (GRCm39)	S94L		Het
Or5ak23	T	A	2: 85,244,993 (GRCm39)	I77F	probably damaging	Het
Otud3	G	T	4: 138,623,133 (GRCm39)	N369K	probably benign	Het
Parp14	C	T	16: 35,678,586 (GRCm39)	E461K	possibly damaging	Het
Paxbp1	T	A	16: 90,827,395 (GRCm39)	Q480L	probably damaging	Het
Polr3a	G	A	14: 24,500,831 (GRCm39)	A1319V	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkg2	A	T	5: 99,172,257 (GRCm39)	S153T	probably benign	Het
Scara3	T	C	14: 66,168,720 (GRCm39)	D299G	probably benign	Het
Scube1	C	A	15: 83,499,080 (GRCm39)	E712*	probably null	Het
Setd4	T	A	16: 93,388,009 (GRCm39)	E159V	probably benign	Het
Slc15a2	T	A	16: 36,572,672 (GRCm39)	I670F	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
St3gal5	A	T	6: 72,119,301 (GRCm39)	K165*	probably null	Het
Sun5	A	G	2: 153,700,365 (GRCm39)	I294T	probably benign	Het
Svil	A	G	18: 5,037,155 (GRCm39)	K37E	probably benign	Het
Tmem104	T	C	11: 115,134,691 (GRCm39)	I409T	probably benign	Het
Tnxb	T	C	17: 34,917,294 (GRCm39)	Y2230H	possibly damaging	Het
Trps1	A	G	15: 50,524,676 (GRCm39)	S1085P	probably damaging	Het
Ttn	A	T	2: 76,612,592 (GRCm39)	N17162K	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,616 (GRCm39)	F258L	probably damaging	Het
Vmn2r102	C	T	17: 19,897,614 (GRCm39)	H210Y	probably benign	Het
Vmn2r75	A	T	7: 85,815,423 (GRCm39)	V147E	probably benign	Het
Zhx3	G	A	2: 160,621,785 (GRCm39)	A794V	probably benign	Het
Zscan2	A	G	7: 80,525,331 (GRCm39)	T351A	probably benign	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
R4557:Snx18	UTSW	13	113,754,364 (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
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'- TATCCACCGTAGAGCTGCTG -3'
(R):5'- CGGCAATGGATTAGCTCTGCTG -3'

Sequencing Primer
(F):5'- TAGAGCTGCTGGGGCGAC -3'
(R):5'- AATGGATTAGCTCTGCTGGGGAC -3'

Posted On

2022-09-30