Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02470:Slc15a3'

294684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc15a3

Ensembl Gene

ENSMUSG00000024737

Gene Name

solute carrier family 15, member 3

Synonyms

cI-1, Ci1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

10839727-10859362 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10853170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 295 (N295S)

Ref Sequence

ENSEMBL: ENSMUSP00000025646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [ENSMUST00000120524]

AlphaFold

Q8BPX9

Predicted Effect

probably benign
Transcript: ENSMUST00000025645

SMART Domains

Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:TMEM132D_N	44	167	1.6e-35	PFAM
low complexity region	206	223	N/A	INTRINSIC
Pfam:TMEM132	403	745	4.1e-108	PFAM
low complexity region	759	776	N/A	INTRINSIC
Pfam:TMEM132D_C	809	897	1.5e-31	PFAM
low complexity region	906	923	N/A	INTRINSIC
low complexity region	932	944	N/A	INTRINSIC
low complexity region	960	976	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025646
AA Change: N295S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: N295S

Domain	Start	End	E-Value	Type
low complexity region	21	37	N/A	INTRINSIC
Pfam:MFS_1	38	508	3.4e-10	PFAM
Pfam:PTR2	101	519	3.2e-79	PFAM
transmembrane domain	538	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120524

SMART Domains

Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	206	223	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138263

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: The gene is involved in pathogen sensing by dendritic cells. Homozygous KO results in a reduction of the number of these cells displaying tubular endo-lysosomes after LPS treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
Adcy10	A	G	1: 165,567,726	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,183,194	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,577,407	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,036,748		probably benign	Het
BB014433	A	T	8: 15,042,803	F17I	unknown	Het
Best1	T	C	19: 9,992,976	S91G	probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcc	A	T	18: 71,955,082		probably benign	Het
Dnajc13	G	A	9: 104,175,747	T1672I	probably benign	Het
Elf3	A	T	1: 135,255,012	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,839,460	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,461,720	Y646H	probably damaging	Het
Fzd6	A	T	15: 39,036,557		probably benign	Het
Gnb1	T	A	4: 155,527,513		probably benign	Het
Mast1	C	A	8: 84,921,212	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,704,621	I424M	possibly damaging	Het
Mobp	A	G	9: 120,168,006	T68A	probably benign	Het
Myh11	T	C	16: 14,218,046	E1006G	probably damaging	Het
Ncstn	A	G	1: 172,082,599		probably null	Het
Olfr1089	A	T	2: 86,733,585	V9E	probably damaging	Het
Olfr340	A	G	2: 36,452,597	D4G	probably benign	Het
Phip	A	T	9: 82,890,454	V1075D	possibly damaging	Het
Serpinb1a	C	T	13: 32,850,393	S5N	probably damaging	Het
Trmt13	A	C	3: 116,590,228		probably null	Het
Trp63	A	C	16: 25,820,384		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Slc15a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slc15a3	APN	19	10853263	missense	probably null	0.60
IGL01131:Slc15a3	APN	19	10857622	unclassified	probably benign
IGL02098:Slc15a3	APN	19	10848678	missense	probably damaging	1.00
IGL03078:Slc15a3	APN	19	10857245	missense	probably damaging	0.99
IGL03197:Slc15a3	APN	19	10855079	critical splice donor site	probably null
R0019:Slc15a3	UTSW	19	10856040	missense	probably damaging	1.00
R0055:Slc15a3	UTSW	19	10843042	nonsense	probably null
R0127:Slc15a3	UTSW	19	10855986	missense	probably damaging	0.99
R0133:Slc15a3	UTSW	19	10843250	missense	probably damaging	1.00
R1079:Slc15a3	UTSW	19	10855980	missense	probably benign	0.02
R1595:Slc15a3	UTSW	19	10854311	missense	probably benign
R1644:Slc15a3	UTSW	19	10857231	missense	possibly damaging	0.79
R1912:Slc15a3	UTSW	19	10848613	missense	probably damaging	1.00
R2074:Slc15a3	UTSW	19	10857299	missense	probably damaging	1.00
R2397:Slc15a3	UTSW	19	10843043	missense	probably benign
R4758:Slc15a3	UTSW	19	10854362	critical splice donor site	probably null
R4948:Slc15a3	UTSW	19	10843046	missense	probably benign	0.09
R5138:Slc15a3	UTSW	19	10856005	missense	probably damaging	1.00
R5319:Slc15a3	UTSW	19	10855932	missense	probably damaging	1.00
R5646:Slc15a3	UTSW	19	10843210	missense	probably benign	0.19
R6145:Slc15a3	UTSW	19	10857251	missense	probably damaging	1.00
R6606:Slc15a3	UTSW	19	10848682	missense	possibly damaging	0.91
R9038:Slc15a3	UTSW	19	10843502	missense	probably damaging	1.00
R9075:Slc15a3	UTSW	19	10848730	missense	probably damaging	1.00
Z1176:Slc15a3	UTSW	19	10848558	missense	probably null	1.00

Posted On

2015-04-16