Mutagenetix > Incidental Mutation

Incidental Mutation 'R3821:Slc17a4'

274942

Institutional Source

Beutler Lab

Gene Symbol

Slc17a4

Ensembl Gene

ENSMUSG00000021336

Gene Name

solute carrier family 17 (sodium phosphate), member 4

Synonyms

9130214H05Rik

MMRRC Submission

040883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3821 (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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	A	11: 101,301,971 (GRCm39)	I332F	probably damaging	Het
Abcd2	C	T	15: 91,058,908 (GRCm39)	G512D	probably damaging	Het
Acp3	G	T	9: 104,201,916 (GRCm39)	Q76K	probably damaging	Het
Adamtsl3	G	T	7: 82,255,687 (GRCm39)		probably benign	Het
Alox8	T	A	11: 69,077,308 (GRCm39)	I481F	probably damaging	Het
Anp32e	A	T	3: 95,842,181 (GRCm39)	I100L	probably benign	Het
Arpin	G	A	7: 79,579,408 (GRCm39)	R72C	probably damaging	Het
C6	A	G	15: 4,819,066 (GRCm39)	E466G	probably benign	Het
Ccdc13	C	A	9: 121,660,085 (GRCm39)	L76F	probably damaging	Het
Cd44	T	C	2: 102,731,738 (GRCm39)		probably null	Het
Clgn	A	G	8: 84,147,106 (GRCm39)	I353V	probably null	Het
Cnot6	A	T	11: 49,579,999 (GRCm39)	S98T	probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cramp1	G	A	17: 25,193,756 (GRCm39)	T908I	probably damaging	Het
Dnah9	C	A	11: 65,741,829 (GRCm39)		probably null	Het
Ehd3	A	T	17: 74,134,390 (GRCm39)	I250F	probably benign	Het
Eml2	T	C	7: 18,936,911 (GRCm39)	V555A	possibly damaging	Het
Erbb4	A	G	1: 68,345,072 (GRCm39)	S550P	probably damaging	Het
Fchsd1	A	G	18: 38,102,510 (GRCm39)		probably benign	Het
Flad1	T	A	3: 89,318,494 (GRCm39)	I20F	probably damaging	Het
Frem2	A	T	3: 53,559,836 (GRCm39)	L1557Q	probably damaging	Het
Gbf1	T	C	19: 46,253,246 (GRCm39)	I506T	probably damaging	Het
Gm20730	C	T	6: 43,058,656 (GRCm39)	S52N	probably benign	Het
Hoxc9	A	G	15: 102,890,596 (GRCm39)	K171R	probably benign	Het
Hscb	A	T	5: 110,984,194 (GRCm39)	D52E	probably damaging	Het
Htr1b	A	T	9: 81,514,487 (GRCm39)	I40N	probably benign	Het
Ido2	T	C	8: 25,023,771 (GRCm39)	I356V	probably benign	Het
Insyn2b	T	C	11: 34,353,007 (GRCm39)	S350P	probably benign	Het
Irs1	T	C	1: 82,267,770 (GRCm39)	T149A	probably benign	Het
Itgam	A	G	7: 127,711,458 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,319,224 (GRCm39)	H244Q	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Kdm3a	A	T	6: 71,588,661 (GRCm39)	D449E	probably benign	Het
Lama1	C	A	17: 68,086,041 (GRCm39)		probably null	Het
Lhfpl4	A	G	6: 113,171,069 (GRCm39)	V39A	probably benign	Het
Marf1	A	T	16: 13,960,418 (GRCm39)	L542Q	probably damaging	Het
Mns1	A	G	9: 72,346,730 (GRCm39)	E71G	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrpl19	C	A	6: 81,938,987 (GRCm39)	E272*	probably null	Het
Ncoa6	T	A	2: 155,248,858 (GRCm39)	N1482I	probably damaging	Het
Neto2	C	A	8: 86,389,924 (GRCm39)	E180*	probably null	Het
Or2a51	A	G	6: 43,178,604 (GRCm39)	T9A	probably benign	Het
Pcdhga10	A	G	18: 37,880,995 (GRCm39)	N252S	probably damaging	Het
Pcdhgb7	C	A	18: 37,885,286 (GRCm39)	T152K	possibly damaging	Het
Ptprb	G	T	10: 116,185,979 (GRCm39)	R1678L	probably benign	Het
Ptprg	A	T	14: 12,226,375 (GRCm38)	I1323L	probably benign	Het
Rab40b	T	A	11: 121,248,874 (GRCm39)	N127I	probably damaging	Het
Scn10a	A	G	9: 119,467,699 (GRCm39)	C814R	probably benign	Het
Sdhb	C	T	4: 140,706,399 (GRCm39)	R279*	probably null	Het
Shroom4	C	T	X: 6,536,276 (GRCm39)	Q1165*	probably null	Het
Slc20a2	A	G	8: 23,028,918 (GRCm39)	I130V	probably benign	Het
Slitrk3	T	C	3: 72,956,549 (GRCm39)	Y741C	possibly damaging	Het
Tas1r1	G	T	4: 152,119,138 (GRCm39)	L144I	probably benign	Het
Tenm2	A	T	11: 35,915,147 (GRCm39)	I2129N	probably damaging	Het
Tmbim1	A	G	1: 74,333,089 (GRCm39)	V92A	probably damaging	Het
Tmem131	T	A	1: 36,847,477 (GRCm39)	H1207L	probably damaging	Het
Tmem209	G	T	6: 30,505,959 (GRCm39)	P116T	probably damaging	Het
Tmem8b	C	A	4: 43,689,745 (GRCm39)	H800N	probably damaging	Het
Tnfsf8	A	G	4: 63,779,127 (GRCm39)	V57A	probably benign	Het
Topaz1	A	G	9: 122,626,848 (GRCm39)	D1492G	possibly damaging	Het
Trank1	G	A	9: 111,207,887 (GRCm39)	G1711R	probably damaging	Het
Trpc6	A	T	9: 8,610,279 (GRCm39)	D249V	probably damaging	Het
Ubr3	G	A	2: 69,824,157 (GRCm39)		probably null	Het
Ufc1	A	G	1: 171,117,172 (GRCm39)		probably benign	Het
Unc5cl	T	C	17: 48,767,001 (GRCm39)	L125P	possibly damaging	Het
Usb1	G	A	8: 96,060,061 (GRCm39)	S57N	probably benign	Het
Wdfy1	A	G	1: 79,684,017 (GRCm39)	S373P	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	Het
Zfp831	T	C	2: 174,485,816 (GRCm39)	S164P	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
R3837: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'- TGGAGATGTAGCACCGATGTTAC -3'
(R):5'- CCTCCGACTTGTCACTATCAGG -3'

Sequencing Primer
(F):5'- AGATGTAGCACCGATGTTACTCTGC -3'
(R):5'- ATCAGGAAGCTCTTCACTGCTGTAG -3'

Posted On

2015-04-02