Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Slc15a4'

172003

Institutional Source

Beutler Lab

Gene Symbol

Slc15a4

Ensembl Gene

ENSMUSG00000029416

Gene Name

solute carrier family 15, member 4

Synonyms

C130069N12Rik, PTR4, PHT1

MMRRC Submission

039583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1544 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

127672728-127709961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127680832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 396 (H396Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031367] [ENSMUST00000152727] [ENSMUST00000153832]

AlphaFold

Q91W98

Predicted Effect

probably benign
Transcript: ENSMUST00000031367
AA Change: H396Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031367
Gene: ENSMUSG00000029416
AA Change: H396Y

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
Pfam:MFS_1	33	505	7.8e-13	PFAM
Pfam:PTR2	96	519	3.6e-127	PFAM
transmembrane domain	533	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124569

SMART Domains

Protein: ENSMUSP00000121595
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PTR2	49	242	8.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144603

SMART Domains

Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
Pfam:PTR2	7	127	2.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152727

SMART Domains

Protein: ENSMUSP00000116529
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
Pfam:PTR2	1	81	3.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153832

SMART Domains

Protein: ENSMUSP00000123116
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
transmembrane domain	67	89	N/A	INTRINSIC
Pfam:PTR2	96	292	5e-52	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000198486
AA Change: H105Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200212

Meta Mutation Damage Score

0.1700

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation display abrogation of both Toll-like receptor (TLR)-induced type I IFN and proinflammatory cytokine production by plasmacytoid dendritic cells. Conventional dendritic cells respond normally to TLR ligands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,543 (GRCm39)	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,187,105 (GRCm39)		probably benign	Het
A730018C14Rik	A	G	12: 112,381,924 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,593,394 (GRCm39)	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,221,694 (GRCm39)	V227I	probably benign	Het
Abcd3	T	C	3: 121,578,122 (GRCm39)	Q168R	probably benign	Het
Adamts4	A	G	1: 171,080,311 (GRCm39)	Q288R	probably benign	Het
Atad2	G	A	15: 57,966,760 (GRCm39)	A611V	probably damaging	Het
Aup1	T	C	6: 83,032,187 (GRCm39)	V118A	possibly damaging	Het
Bend7	T	A	2: 4,768,122 (GRCm39)		probably benign	Het
Brd4	A	G	17: 32,417,646 (GRCm39)		probably benign	Het
C4b	C	A	17: 34,957,941 (GRCm39)	R580L	probably benign	Het
Cct8	G	T	16: 87,288,342 (GRCm39)		probably benign	Het
Cfhr4	A	T	1: 139,664,608 (GRCm39)	C484S	probably damaging	Het
Cilp	T	C	9: 65,183,127 (GRCm39)	Y344H	probably benign	Het
Clic6	A	T	16: 92,288,961 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,703 (GRCm39)	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,224,955 (GRCm39)	A212S	probably benign	Het
Csmd3	A	C	15: 47,475,294 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,679,393 (GRCm39)	D366G	probably benign	Het
Dhx33	A	G	11: 70,890,354 (GRCm39)	S222P	probably damaging	Het
Dhx40	T	A	11: 86,697,379 (GRCm39)	I63F	possibly damaging	Het
Dipk2b	A	C	X: 18,286,701 (GRCm39)	L285V	possibly damaging	Het
Dlgap2	T	A	8: 14,879,861 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,105,957 (GRCm39)	D20E	unknown	Het
Dnase2b	C	A	3: 146,290,312 (GRCm39)	A220S	probably benign	Het
Dock10	T	C	1: 80,570,352 (GRCm39)	E362G	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Epha10	C	A	4: 124,779,389 (GRCm39)	N78K	probably damaging	Het
Epha3	A	G	16: 63,593,416 (GRCm39)	V224A	probably damaging	Het
Fcgr4	C	A	1: 170,847,523 (GRCm39)	D40E	probably damaging	Het
Fer1l4	T	C	2: 155,887,553 (GRCm39)	M548V	probably benign	Het
Flii	C	T	11: 60,610,518 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,444,079 (GRCm39)	Y631F	probably benign	Het
Gm6871	A	C	7: 41,195,514 (GRCm39)		probably null	Het
Gtf2ird1	A	T	5: 134,387,772 (GRCm39)	S1028T	possibly damaging	Het
Hycc1	A	T	5: 24,170,139 (GRCm39)	D403E	probably benign	Het
Hydin	A	G	8: 111,301,486 (GRCm39)	H3739R	probably benign	Het
Iqcg	A	T	16: 32,865,895 (GRCm39)	N149K	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Itih2	T	G	2: 10,110,025 (GRCm39)	D576A	probably benign	Het
Kcmf1	T	C	6: 72,825,212 (GRCm39)	T243A	probably benign	Het
Kif1a	A	G	1: 93,002,670 (GRCm39)		probably benign	Het
Klf10	C	T	15: 38,297,030 (GRCm39)	G337S	probably damaging	Het
Krt31	T	C	11: 99,938,699 (GRCm39)	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,882,823 (GRCm39)	E556G	probably benign	Het
Mael	A	T	1: 166,029,859 (GRCm39)	S354T	probably benign	Het
Mast3	T	C	8: 71,238,816 (GRCm39)	D496G	probably damaging	Het
Med12l	A	G	3: 59,172,661 (GRCm39)	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,944,260 (GRCm39)		probably null	Het
Moap1	A	T	12: 102,709,504 (GRCm39)	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,764,683 (GRCm39)	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myo9b	T	A	8: 71,743,620 (GRCm39)	L227Q	probably damaging	Het
Myom2	T	C	8: 15,154,059 (GRCm39)		probably benign	Het
Naip6	C	A	13: 100,452,983 (GRCm39)	R26L	probably benign	Het
Nbea	T	C	3: 55,966,248 (GRCm39)	T405A	probably damaging	Het
Nrp2	T	A	1: 62,802,063 (GRCm39)	I502N	probably damaging	Het
Nt5el	A	T	13: 105,246,129 (GRCm39)	H230L	probably benign	Het
Nufip2	G	A	11: 77,582,733 (GRCm39)	E216K	possibly damaging	Het
Oaf	A	G	9: 43,133,930 (GRCm39)	Y264H	probably damaging	Het
Or51a42	A	G	7: 103,708,431 (GRCm39)	V126A	probably damaging	Het
Or5m10	T	C	2: 85,717,615 (GRCm39)	L157P	probably damaging	Het
Or6c217	A	T	10: 129,738,293 (GRCm39)	C95*	probably null	Het
Pax1	T	C	2: 147,210,321 (GRCm39)	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,764,974 (GRCm39)		probably null	Het
Plxna3	G	A	X: 73,383,772 (GRCm39)		probably null	Het
Pnpla3	T	C	15: 84,065,247 (GRCm39)	V347A	probably benign	Het
Ppl	T	A	16: 4,920,461 (GRCm39)	K350*	probably null	Het
Pramel28	T	C	4: 143,692,632 (GRCm39)	D123G	probably benign	Het
Prb1a	T	A	6: 132,186,424 (GRCm39)		probably null	Het
Prb1a	C	A	6: 132,186,423 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,275,574 (GRCm39)	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,747 (GRCm39)	H946N	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad51b	A	G	12: 79,349,317 (GRCm39)	E51G	possibly damaging	Het
Rin2	T	C	2: 145,700,366 (GRCm39)	V181A	probably damaging	Het
Rnf157	T	A	11: 116,245,188 (GRCm39)		probably null	Het
Rnf207	A	G	4: 152,398,328 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,299,183 (GRCm39)	K852M	probably damaging	Het
Sbp	T	A	17: 24,164,043 (GRCm39)	I102K	probably benign	Het
Scaf8	T	C	17: 3,195,429 (GRCm39)	I33T	probably damaging	Het
Scn5a	C	T	9: 119,315,699 (GRCm39)	V1670I	probably damaging	Het
Serhl	C	T	15: 82,989,877 (GRCm39)	T42M	probably damaging	Het
Sin3a	A	G	9: 57,011,281 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,012,374 (GRCm39)	S166G	probably benign	Het
Slc2a7	A	T	4: 150,239,143 (GRCm39)	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,992,199 (GRCm39)	T118M	possibly damaging	Het
Spns2	A	T	11: 72,347,193 (GRCm39)	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,650 (GRCm39)	S112T	probably damaging	Het
Stard10	A	T	7: 100,993,233 (GRCm39)	D190V	probably damaging	Het
Stil	A	T	4: 114,881,049 (GRCm39)	K531M	probably damaging	Het
Strc	T	C	2: 121,203,219 (GRCm39)		probably null	Het
Svil	T	A	18: 5,046,817 (GRCm39)	I21N	possibly damaging	Het
Syt11	T	C	3: 88,656,110 (GRCm39)	M14V	probably benign	Het
Tasor2	A	T	13: 3,640,413 (GRCm39)	H241Q	possibly damaging	Het
Tg	A	T	15: 66,577,081 (GRCm39)	Q1468L	probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,486,658 (GRCm39)	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 106,554,383 (GRCm39)		probably benign	Het
Tyr	C	A	7: 87,141,914 (GRCm39)	L138F	probably damaging	Het
Ubash3b	A	G	9: 40,927,901 (GRCm39)	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,709,098 (GRCm39)	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,658,968 (GRCm39)	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,740,465 (GRCm39)	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Wdr90	T	C	17: 26,068,284 (GRCm39)	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,324,187 (GRCm39)	C261S	probably benign	Het
Zfp809	T	A	9: 22,146,395 (GRCm39)	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,239,066 (GRCm39)	Q99L	probably damaging	Het

Other mutations in Slc15a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Slc15a4	APN	5	127,679,024 (GRCm39)	missense	probably benign	0.13
IGL01543:Slc15a4	APN	5	127,680,830 (GRCm39)	missense	probably benign	0.12
IGL01805:Slc15a4	APN	5	127,685,900 (GRCm39)	missense	possibly damaging	0.91
IGL02958:Slc15a4	APN	5	127,681,729 (GRCm39)	missense	possibly damaging	0.93
IGL03367:Slc15a4	APN	5	127,679,005 (GRCm39)	missense	probably damaging	1.00
bondage	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
feeble	UTSW	5	127,685,834 (GRCm39)	unclassified	probably benign
R0018:Slc15a4	UTSW	5	127,679,074 (GRCm39)	missense	probably damaging	1.00
R0018:Slc15a4	UTSW	5	127,679,074 (GRCm39)	missense	probably damaging	1.00
R0838:Slc15a4	UTSW	5	127,694,067 (GRCm39)	missense	possibly damaging	0.53
R1662:Slc15a4	UTSW	5	127,686,043 (GRCm39)	missense	probably damaging	1.00
R2504:Slc15a4	UTSW	5	127,694,303 (GRCm39)	missense	possibly damaging	0.92
R2843:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R2845:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R2846:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R2900:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R2971:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3018:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3020:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3021:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3027:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3053:Slc15a4	UTSW	5	127,673,746 (GRCm39)	missense	possibly damaging	0.83
R3155:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R3432:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4356:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4357:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4359:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4448:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4449:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4450:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4514:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4544:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4546:Slc15a4	UTSW	5	127,681,600 (GRCm39)	critical splice donor site	probably null
R4952:Slc15a4	UTSW	5	127,680,901 (GRCm39)	missense	probably damaging	1.00
R5278:Slc15a4	UTSW	5	127,694,033 (GRCm39)	missense	probably damaging	0.99
R6393:Slc15a4	UTSW	5	127,693,950 (GRCm39)	missense	probably benign	0.13
R6527:Slc15a4	UTSW	5	127,673,773 (GRCm39)	missense	probably damaging	1.00
R7409:Slc15a4	UTSW	5	127,681,742 (GRCm39)	missense	probably benign	0.04
R8223:Slc15a4	UTSW	5	127,686,080 (GRCm39)	missense	possibly damaging	0.65
R8708:Slc15a4	UTSW	5	127,673,715 (GRCm39)	missense	probably benign	0.00
R8848:Slc15a4	UTSW	5	127,679,021 (GRCm39)	missense	probably benign	0.22
R9301:Slc15a4	UTSW	5	127,673,812 (GRCm39)	missense	probably benign	0.11
R9396:Slc15a4	UTSW	5	127,694,463 (GRCm39)	intron	probably benign
R9695:Slc15a4	UTSW	5	127,694,400 (GRCm39)	missense	possibly damaging	0.78
Z1177:Slc15a4	UTSW	5	127,677,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACTTGAAGAGTCACCAGCTACC -3'
(R):5'- CTCCCAGCTCTGAGCACACTTATTG -3'

Sequencing Primer
(F):5'- AGCTACCCAGTGCCTTCAG -3'
(R):5'- TCTGAGCACACTTATTGCCAGAC -3'

Posted On

2014-04-13