Mutagenetix > Incidental Mutation

Incidental Mutation 'R9075:Slc15a3'

689760

Institutional Source

Beutler Lab

Gene Symbol

Slc15a3

Ensembl Gene

ENSMUSG00000024737

Gene Name

solute carrier family 15, member 3

Synonyms

Ci1, cI-1

MMRRC Submission

068896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10819908-10835279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10826094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 262 (S262P)

Ref Sequence

ENSEMBL: ENSMUSP00000025646 (fasta)

Gene Model

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

AlphaFold

Q8BPX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025646
AA Change: S262P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
AA Change: S262P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	G	1: 120,097,014 (GRCm39)	S137A		Het
Actl6a	G	T	3: 32,769,641 (GRCm39)	C152F	possibly damaging	Het
Adam26b	A	T	8: 43,973,405 (GRCm39)	D532E	probably benign	Het
Adamts6	A	G	13: 104,598,793 (GRCm39)	N878S	probably benign	Het
Ap1b1	T	C	11: 4,975,597 (GRCm39)	S387P	possibly damaging	Het
Cdh23	A	G	10: 60,153,541 (GRCm39)	S2350P	probably damaging	Het
Cdh4	A	G	2: 179,501,940 (GRCm39)	D300G	probably damaging	Het
Cngb1	T	C	8: 95,979,993 (GRCm39)	Y969C	probably damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Fam168a	T	A	7: 100,484,582 (GRCm39)	V224D	probably damaging	Het
Fam210a	C	T	18: 68,405,693 (GRCm39)	V177M	probably damaging	Het
Flnc	A	T	6: 29,447,646 (GRCm39)	I1150F	probably damaging	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Gm11555	C	T	11: 99,540,694 (GRCm39)	C95Y		Het
Gns	A	G	10: 121,226,542 (GRCm39)	N397S	probably benign	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Ifi204	T	A	1: 173,589,282 (GRCm39)	N50Y	possibly damaging	Het
Iqub	T	A	6: 24,446,124 (GRCm39)	I767F	probably damaging	Het
Lama2	A	T	10: 26,857,588 (GRCm39)	L3087Q	probably damaging	Het
Mars2	A	G	1: 55,278,154 (GRCm39)	T586A	probably damaging	Het
Mrps28	G	T	3: 8,867,312 (GRCm39)	S185R	probably benign	Het
Nphp4	T	C	4: 152,591,905 (GRCm39)	Y363H	probably damaging	Het
Nploc4	T	C	11: 120,304,526 (GRCm39)	T232A	possibly damaging	Het
Pate3	A	G	9: 35,557,893 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,339 (GRCm39)	A1041V	probably benign	Het
Plpp5	T	A	8: 26,210,379 (GRCm39)	Y50N	probably benign	Het
Ppp4r4	G	T	12: 103,570,290 (GRCm39)	G755*	probably null	Het
Psmd14	T	A	2: 61,607,021 (GRCm39)	V156D	probably damaging	Het
Ptch1	G	A	13: 63,681,335 (GRCm39)	R651C	possibly damaging	Het
Rai14	T	C	15: 10,589,403 (GRCm39)	E265G	probably damaging	Het
Rbmx	G	A	X: 56,432,717 (GRCm39)	P301L	probably benign	Het
Rimbp2	T	A	5: 128,851,312 (GRCm39)	D878V	probably damaging	Het
Sarm1	T	C	11: 78,374,023 (GRCm39)	K668R	probably benign	Het
Slc10a2	C	A	8: 5,155,267 (GRCm39)		probably benign	Het
Slf2	T	C	19: 44,930,860 (GRCm39)	Y646H	probably damaging	Het
Smpd4	C	T	16: 17,457,849 (GRCm39)	P406S	unknown	Het
Sv2b	A	G	7: 74,789,845 (GRCm39)	V396A	possibly damaging	Het
Swt1	A	G	1: 151,246,245 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,776,563 (GRCm39)	E485G	probably benign	Het
Tbc1d9	T	C	8: 83,982,501 (GRCm39)	V762A	probably benign	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tie1	C	A	4: 118,341,356 (GRCm39)	G275V	possibly damaging	Het
Tmprss15	T	C	16: 78,754,259 (GRCm39)	Y998C	probably damaging	Het
Trappc10	A	T	10: 78,040,130 (GRCm39)	V607E	possibly damaging	Het
Trim69	A	T	2: 122,009,264 (GRCm39)	R441S	probably benign	Het
Trio	G	T	15: 27,774,022 (GRCm39)	S1814*	probably null	Het
Vmn1r192	C	T	13: 22,371,333 (GRCm39)	V296I	probably benign	Het
Vmn1r223	A	G	13: 23,433,600 (GRCm39)	S65G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r41	A	G	7: 8,141,250 (GRCm39)	V738A	probably benign	Het
Zfp408	A	G	2: 91,476,065 (GRCm39)	V363A	possibly damaging	Het
Zfp583	A	T	7: 6,319,870 (GRCm39)	C381S	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
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
R9639:Slc15a3	UTSW	19	10,820,717 (GRCm39)	nonsense	probably null
Z1176:Slc15a3	UTSW	19	10,825,922 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCAGGTGATGGATCTCG -3'
(R):5'- GCAGAGCAGCTTTTCATTCAG -3'

Sequencing Primer
(F):5'- CAACTGGTTCTATTGGAGCATCAACC -3'
(R):5'- GAGCAGCTTTTCATTCAGTGCCAG -3'

Posted On

2021-11-19