Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Slc17a4'

275710

Institutional Source

Beutler Lab

Gene Symbol

Slc17a4

Ensembl Gene

ENSMUSG00000021336

Gene Name

solute carrier family 17 (sodium phosphate), member 4

Synonyms

9130214H05Rik

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24081862-24098992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24085752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 387 (R387H)

Ref Sequence

ENSEMBL: ENSMUSP00000106037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000225797]

AlphaFold

Q5NCM1

Predicted Effect

probably benign
Transcript: ENSMUST00000021769
AA Change: R387H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: R387H

Domain	Start	End	E-Value	Type
Pfam:MFS_1	40	373	1.4e-48	PFAM
Pfam:MFS_1	361	492	2.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110407
AA Change: R387H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: R387H

Domain	Start	End	E-Value	Type
Pfam:MFS_1	40	371	1.7e-47	PFAM
Pfam:MFS_1	359	490	3.9e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225763

Predicted Effect

probably benign
Transcript: ENSMUST00000225797

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly damaging	Het

Other mutations in Slc17a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01724:Slc17a4	APN	13	24,089,516 (GRCm39)	missense	probably benign	0.06
IGL02976:Slc17a4	APN	13	24,089,407 (GRCm39)	missense	probably damaging	0.99
PIT4581001:Slc17a4	UTSW	13	24,086,001 (GRCm39)	missense	probably damaging	0.99
PIT4696001:Slc17a4	UTSW	13	24,084,497 (GRCm39)	missense	probably benign	0.02
R1490:Slc17a4	UTSW	13	24,088,736 (GRCm39)	missense	probably benign	0.29
R1726:Slc17a4	UTSW	13	24,089,574 (GRCm39)	nonsense	probably null
R1866:Slc17a4	UTSW	13	24,084,528 (GRCm39)	missense	possibly damaging	0.67
R3820:Slc17a4	UTSW	13	24,085,752 (GRCm39)	missense	probably benign
R3821:Slc17a4	UTSW	13	24,085,752 (GRCm39)	missense	probably benign
R3838:Slc17a4	UTSW	13	24,085,752 (GRCm39)	missense	probably benign
R3839:Slc17a4	UTSW	13	24,085,752 (GRCm39)	missense	probably benign
R5347:Slc17a4	UTSW	13	24,092,800 (GRCm39)	missense	possibly damaging	0.63
R5489:Slc17a4	UTSW	13	24,082,825 (GRCm39)	splice site	probably null
R6607:Slc17a4	UTSW	13	24,089,397 (GRCm39)	splice site	probably null
R7614:Slc17a4	UTSW	13	24,090,580 (GRCm39)	missense	probably benign	0.02
R7730:Slc17a4	UTSW	13	24,084,503 (GRCm39)	nonsense	probably null
R7744:Slc17a4	UTSW	13	24,085,767 (GRCm39)	missense	probably benign	0.08
R8532:Slc17a4	UTSW	13	24,088,718 (GRCm39)	missense	probably damaging	1.00
R8802:Slc17a4	UTSW	13	24,089,274 (GRCm39)	missense	probably damaging	1.00
R8804:Slc17a4	UTSW	13	24,087,245 (GRCm39)	missense	probably benign	0.01
R9454:Slc17a4	UTSW	13	24,085,910 (GRCm39)	missense	probably benign	0.05
R9628:Slc17a4	UTSW	13	24,089,512 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TTGCATCAGAACAAGGGTAGC -3'
(R):5'- TGGCTGTGTCTGCATCATC -3'

Sequencing Primer
(F):5'- CTAGTGCTCCTGGACCTGAAC -3'
(R):5'- ATCATCCTTGGGGGCCTACTG -3'

Posted On

2015-04-06