Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Slc15a3'

15426

Institutional Source

Beutler Lab

Gene Symbol

Slc15a3

Ensembl Gene

ENSMUSG00000024737

Gene Name

solute carrier family 15, member 3

Synonyms

Ci1, cI-1

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10819908-10835279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10833404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 474 (I474V)

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 damaging
Transcript: ENSMUST00000025646
AA Change: I474V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: I474V

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

Meta Mutation Damage Score

0.2799

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,924,142 (GRCm39)		probably benign	Het
Arhgef12	A	T	9: 42,889,529 (GRCm39)	W1029R	probably damaging	Het
Aunip	T	A	4: 134,250,823 (GRCm39)	L256*	probably null	Het
Bahcc1	T	A	11: 120,180,597 (GRCm39)	M2607K	probably damaging	Het
Bltp3b	A	G	10: 89,611,831 (GRCm39)	T5A	probably damaging	Het
Cacng6	G	T	7: 3,480,384 (GRCm39)	M152I	possibly damaging	Het
Cep120	A	G	18: 53,842,119 (GRCm39)		probably benign	Het
D130043K22Rik	T	A	13: 25,064,795 (GRCm39)	V737D	probably damaging	Het
Dock10	A	G	1: 80,583,642 (GRCm39)	S187P	probably damaging	Het
Eogt	C	T	6: 97,111,234 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,698,824 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,431,099 (GRCm39)	V2745M	probably damaging	Het
Fshb	T	C	2: 106,887,690 (GRCm39)	S110G	probably benign	Het
Gpi1	A	G	7: 33,920,324 (GRCm39)	Y144H	probably damaging	Het
Gsap	T	C	5: 21,475,620 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc3	T	C	6: 58,862,050 (GRCm39)		probably benign	Het
Il1r2	C	T	1: 40,164,210 (GRCm39)	T359M	probably damaging	Het
Il6st	T	C	13: 112,637,682 (GRCm39)	C563R	possibly damaging	Het
Irs1	T	A	1: 82,264,977 (GRCm39)	K1080*	probably null	Het
Itpr1	T	C	6: 108,331,587 (GRCm39)	V182A	probably damaging	Het
Kalrn	C	T	16: 34,018,884 (GRCm39)		probably benign	Het
Kcnj11	G	A	7: 45,748,363 (GRCm39)	A320V	probably benign	Het
Lrig1	T	A	6: 94,584,330 (GRCm39)	R905*	probably null	Het
Lrrc43	T	C	5: 123,639,378 (GRCm39)	L469P	probably damaging	Het
Med29	A	T	7: 28,090,501 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,578,623 (GRCm39)	I18M	probably benign	Het
Nalcn	A	C	14: 123,744,901 (GRCm39)	C376G	probably benign	Het
Ncor2	C	T	5: 125,196,545 (GRCm39)		probably null	Het
Nek1	T	A	8: 61,542,768 (GRCm39)	M786K	probably benign	Het
Nrxn2	A	G	19: 6,559,987 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,231,080 (GRCm39)	I430V	probably benign	Het
Pcolce2	A	G	9: 95,577,017 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,241,932 (GRCm39)	L273M	probably damaging	Het
Pml	A	T	9: 58,127,776 (GRCm39)	S610R	probably damaging	Het
Polk	C	A	13: 96,641,124 (GRCm39)	R144S	probably damaging	Het
Rlf	A	G	4: 121,003,769 (GRCm39)	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,285,703 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,292,045 (GRCm39)	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,495,183 (GRCm39)	I296T	probably benign	Het
Sstr1	T	C	12: 58,259,935 (GRCm39)	L186S	probably damaging	Het
Tmem108	A	T	9: 103,366,539 (GRCm39)	V484D	possibly damaging	Het
Trim69	A	T	2: 122,004,958 (GRCm39)		probably null	Het
Trim80	T	G	11: 115,338,768 (GRCm39)	Y533D	probably damaging	Het
Unc13b	T	C	4: 43,096,990 (GRCm39)	I121T	possibly damaging	Het
Usp40	T	C	1: 87,906,133 (GRCm39)	T701A	probably benign	Het
Xpr1	A	G	1: 155,208,145 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,090 (GRCm39)	I219N	probably damaging	Het
Zfp219	G	T	14: 52,246,485 (GRCm39)	T169K	probably damaging	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
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
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

2012-12-21