Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00843:Slc15a3'

14044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc15a3

Ensembl Gene

ENSMUSG00000024737

Gene Name

solute carrier family 15, member 3

Synonyms

Ci1, cI-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

10819908-10835279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10830627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 326 (M326K)

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 null
Transcript: ENSMUST00000025646
AA Change: M326K

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: M326K

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,291,657 (GRCm39)		probably null	Het
Bpnt2	T	C	4: 4,776,308 (GRCm39)		probably benign	Het
Clcn2	T	C	16: 20,522,391 (GRCm39)	T772A	probably benign	Het
Cldn18	A	T	9: 99,580,874 (GRCm39)	F125I	probably benign	Het
Ehhadh	A	G	16: 21,581,379 (GRCm39)	S538P	possibly damaging	Het
Ets2	T	G	16: 95,510,837 (GRCm39)	F32V	probably benign	Het
F5	G	A	1: 164,039,360 (GRCm39)	R1990Q	probably benign	Het
Fetub	A	G	16: 22,748,379 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,422,158 (GRCm39)	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240 (GRCm39)	M332T	probably benign	Het
Hmcn1	A	G	1: 150,486,464 (GRCm39)	I4314T	possibly damaging	Het
Lonrf2	C	A	1: 38,851,616 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,510,191 (GRCm39)	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,641,261 (GRCm39)	V1606A	possibly damaging	Het
Oog2	G	T	4: 143,921,742 (GRCm39)	L217F	probably damaging	Het
Plxnc1	T	C	10: 94,683,411 (GRCm39)	H791R	probably benign	Het
Prdm2	G	A	4: 142,860,884 (GRCm39)	S802L	probably damaging	Het
Prss32	T	A	17: 24,076,336 (GRCm39)	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,582,099 (GRCm39)	V1337E	probably benign	Het
Slc25a54	A	T	3: 109,020,176 (GRCm39)	T397S	possibly damaging	Het
Slfn3	C	T	11: 83,104,257 (GRCm39)	T376M	probably damaging	Het
Stradb	T	A	1: 59,033,568 (GRCm39)	D410E	probably benign	Het
Tdh	T	C	14: 63,733,213 (GRCm39)	T178A	probably damaging	Het
Tspan12	T	A	6: 21,851,081 (GRCm39)		probably benign	Het
Ube2b	A	T	11: 51,886,202 (GRCm39)	D50E	probably benign	Het
Zranb1	A	C	7: 132,551,622 (GRCm39)	H117P	probably benign	Het

Other mutations in Slc15a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Slc15a3	APN	19	10,834,986 (GRCm39)	unclassified	probably benign
IGL02098:Slc15a3	APN	19	10,826,042 (GRCm39)	missense	probably damaging	1.00
IGL02470:Slc15a3	APN	19	10,830,534 (GRCm39)	missense	probably benign
IGL03078:Slc15a3	APN	19	10,834,609 (GRCm39)	missense	probably damaging	0.99
IGL03197:Slc15a3	APN	19	10,832,443 (GRCm39)	critical splice donor site	probably null
R0019:Slc15a3	UTSW	19	10,833,404 (GRCm39)	missense	probably damaging	1.00
R0055:Slc15a3	UTSW	19	10,820,406 (GRCm39)	nonsense	probably null
R0127:Slc15a3	UTSW	19	10,833,350 (GRCm39)	missense	probably damaging	0.99
R0133:Slc15a3	UTSW	19	10,820,614 (GRCm39)	missense	probably damaging	1.00
R1079:Slc15a3	UTSW	19	10,833,344 (GRCm39)	missense	probably benign	0.02
R1595:Slc15a3	UTSW	19	10,831,675 (GRCm39)	missense	probably benign
R1644:Slc15a3	UTSW	19	10,834,595 (GRCm39)	missense	possibly damaging	0.79
R1912:Slc15a3	UTSW	19	10,825,977 (GRCm39)	missense	probably damaging	1.00
R2074:Slc15a3	UTSW	19	10,834,663 (GRCm39)	missense	probably damaging	1.00
R2397:Slc15a3	UTSW	19	10,820,407 (GRCm39)	missense	probably benign
R4758:Slc15a3	UTSW	19	10,831,726 (GRCm39)	critical splice donor site	probably null
R4948:Slc15a3	UTSW	19	10,820,410 (GRCm39)	missense	probably benign	0.09
R5138:Slc15a3	UTSW	19	10,833,369 (GRCm39)	missense	probably damaging	1.00
R5319:Slc15a3	UTSW	19	10,833,296 (GRCm39)	missense	probably damaging	1.00
R5646:Slc15a3	UTSW	19	10,820,574 (GRCm39)	missense	probably benign	0.19
R6145:Slc15a3	UTSW	19	10,834,615 (GRCm39)	missense	probably damaging	1.00
R6606:Slc15a3	UTSW	19	10,826,046 (GRCm39)	missense	possibly damaging	0.91
R9038:Slc15a3	UTSW	19	10,820,866 (GRCm39)	missense	probably damaging	1.00
R9075:Slc15a3	UTSW	19	10,826,094 (GRCm39)	missense	probably damaging	1.00
R9639:Slc15a3	UTSW	19	10,820,717 (GRCm39)	nonsense	probably null
Z1176:Slc15a3	UTSW	19	10,825,922 (GRCm39)	missense	probably null	1.00

Posted On

2012-12-06