Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01131:Slc15a3'

53283

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 #

IGL01131

Quality Score

Status

Chromosome

Chromosomal Location

10819908-10835279 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 10834986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113696 (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

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737

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
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Cfap20	T	C	8: 96,151,287 (GRCm39)	D18G	probably damaging	Het
Cpne3	T	C	4: 19,543,318 (GRCm39)	D160G	probably damaging	Het
Ercc3	A	G	18: 32,402,942 (GRCm39)	*784W	probably null	Het
Fam53b	T	C	7: 132,317,511 (GRCm39)	E377G	probably damaging	Het
Far2	T	C	6: 148,052,096 (GRCm39)	V125A	possibly damaging	Het
Fasn	T	C	11: 120,705,445 (GRCm39)	E1192G	probably benign	Het
Irf5	A	G	6: 29,536,102 (GRCm39)	E372G	probably damaging	Het
Kif2c	C	T	4: 117,029,562 (GRCm39)	V140M	probably damaging	Het
Klre1	T	C	6: 129,561,133 (GRCm39)	F165L	possibly damaging	Het
Kmt2a	C	T	9: 44,732,467 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,329,583 (GRCm39)	C1728Y	probably damaging	Het
Muc4	C	A	16: 32,753,901 (GRCm38)	T1259N	possibly damaging	Het
Nlrp9b	A	G	7: 19,757,462 (GRCm39)	D233G	probably damaging	Het
Nuf2	T	C	1: 169,349,933 (GRCm39)		probably benign	Het
Nynrin	A	G	14: 56,110,142 (GRCm39)	K1750E	probably damaging	Het
Or5b109	A	G	19: 13,212,103 (GRCm39)	D163G	probably benign	Het
Parp4	C	A	14: 56,823,217 (GRCm39)		probably benign	Het
Rbms1	T	C	2: 60,589,180 (GRCm39)	M287V	probably benign	Het
Rhox3c	G	A	X: 36,651,982 (GRCm39)	R71K	probably damaging	Het
Rufy1	A	G	11: 50,282,850 (GRCm39)	L638P	probably damaging	Het
Slc26a9	T	C	1: 131,683,280 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,298,600 (GRCm39)	Y150C	probably damaging	Het
Slitrk6	A	T	14: 110,989,008 (GRCm39)	L233Q	probably damaging	Het
Ugt3a1	T	A	15: 9,365,248 (GRCm39)	I287N	probably damaging	Het
Unc13c	T	C	9: 73,471,335 (GRCm39)	N1778S	probably benign	Het
Vmn1r212	T	C	13: 23,067,329 (GRCm39)	N335D	unknown	Het
Wdfy1	C	T	1: 79,691,589 (GRCm39)	V273I	probably benign	Het

Other mutations in Slc15a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slc15a3	APN	19	10,830,627 (GRCm39)	missense	probably null	0.60
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

2013-06-21