Mutagenetix > Incidental Mutations

Incidental Mutation 'R5321:Slc15a5'

406108

Institutional Source

Beutler Lab

Gene Symbol

Slc15a5

Ensembl Gene

ENSMUSG00000044378

Gene Name

solute carrier family 15, member 5

Synonyms

MMRRC Submission

042904-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137983586-138079916 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137987438 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 496 (N496K)

Ref Sequence

ENSEMBL: ENSMUSP00000129239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171804]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050132

SMART Domains

Protein: ENSMUSP00000050794
Gene: ENSMUSG00000044378

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	69	88	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
Pfam:PTR2	167	345	1.2e-8	PFAM
transmembrane domain	375	394	N/A	INTRINSIC
low complexity region	417	424	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111873
AA Change: N188K

SMART Domains

Protein: ENSMUSP00000107504
Gene: ENSMUSG00000044378
AA Change: N188K

Domain	Start	End	E-Value	Type
transmembrane domain	7	28	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	167	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171804
AA Change: N496K

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: N496K

Domain	Start	End	E-Value	Type
Pfam:PTR2	101	485	4.3e-23	PFAM
low complexity region	536	543	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,327,825	F72L	probably benign	Het
Btrc	G	A	19: 45,507,758	V211M	probably damaging	Het
Col6a5	A	T	9: 105,928,465	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,707,230	Y109C	probably benign	Het
Dlec1	T	A	9: 119,112,601	S352T	probably benign	Het
Dzip3	T	G	16: 48,957,675	T349P	possibly damaging	Het
Endou	A	G	15: 97,721,032	V37A	probably damaging	Het
Exosc1	A	T	19: 41,924,060	C129*	probably null	Het
Flywch1	C	G	17: 23,756,651	R539P	probably damaging	Het
Gm14410	G	A	2: 177,193,505	T322I	probably damaging	Het
Gm340	G	T	19: 41,585,204	W799C	probably damaging	Het
Lpin2	G	A	17: 71,246,858	V857M	probably damaging	Het
Olfr629	T	C	7: 103,740,655	N195S	probably damaging	Het
Patl1	A	G	19: 11,921,421	Q160R	probably damaging	Het
Phtf1	C	T	3: 104,003,511	T606I	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,519,170	S207G	unknown	Het
Slc17a2	A	T	13: 23,812,631	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,478,094	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,425,658	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,487,215	C35R	probably damaging	Het
Tpte	A	T	8: 22,297,203	R33*	probably null	Het
Trpv2	T	A	11: 62,584,571	L270H	probably damaging	Het
Utp18	A	G	11: 93,866,434	L468P	probably damaging	Het
Uxs1	A	G	1: 43,805,645	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,432,442	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,956,197	L112*	probably null	Het
Vmn1r5	T	C	6: 56,985,607	L89P	probably damaging	Het
Vmn2r10	G	T	5: 108,995,639	A815E	probably damaging	Het
Zfp119a	A	T	17: 55,865,595	L416H	probably damaging	Het

Other mutations in Slc15a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Slc15a5	APN	6	138043538	missense	probably damaging	1.00
IGL02090:Slc15a5	APN	6	138043600	missense	probably benign	0.00
R0288:Slc15a5	UTSW	6	138017916	splice site	probably benign
R0355:Slc15a5	UTSW	6	138018114	splice site	probably benign
R0825:Slc15a5	UTSW	6	138018089	missense	possibly damaging	0.84
R1470:Slc15a5	UTSW	6	138072994	missense	probably benign	0.01
R1470:Slc15a5	UTSW	6	138072994	missense	probably benign	0.01
R1721:Slc15a5	UTSW	6	138072847	splice site	probably benign
R1897:Slc15a5	UTSW	6	138079764	missense	possibly damaging	0.93
R4159:Slc15a5	UTSW	6	138072940	missense	possibly damaging	0.84
R4415:Slc15a5	UTSW	6	138079756	missense	probably benign	0.34
R4703:Slc15a5	UTSW	6	138055645	missense	probably benign	0.08
R4951:Slc15a5	UTSW	6	138073066	missense	probably damaging	1.00
R4996:Slc15a5	UTSW	6	138043585	missense	probably damaging	1.00
R5268:Slc15a5	UTSW	6	138079753	missense	probably damaging	1.00
R5310:Slc15a5	UTSW	6	138073036	missense	probably benign	0.28
R5963:Slc15a5	UTSW	6	138079693	missense	probably damaging	1.00
R5988:Slc15a5	UTSW	6	138043531	missense	probably benign	0.07
R7400:Slc15a5	UTSW	6	138073057	missense	probably benign	0.01
R7515:Slc15a5	UTSW	6	138043498	missense	possibly damaging	0.89
R7604:Slc15a5	UTSW	6	138079786	missense	probably damaging	1.00
R7707:Slc15a5	UTSW	6	138079747	missense	probably damaging	1.00
R8344:Slc15a5	UTSW	6	138079900	missense	probably damaging	1.00
R8410:Slc15a5	UTSW	6	138012155	missense

Predicted Primers

PCR Primer
(F):5'- GCACTCATTTGGTGTGAGAATAGG -3'
(R):5'- TGAGCTTCCTCACACTGGTAAC -3'

Sequencing Primer
(F):5'- CCATTACATTTCTGCAGGATGCTAG -3'
(R):5'- CATTACCAAGGTGCACAATGTTC -3'

Posted On

2016-07-22