Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Slc20a1'

506037

Institutional Source

Beutler Lab

Gene Symbol

Slc20a1

Ensembl Gene

ENSMUSG00000027397

Gene Name

solute carrier family 20, member 1

Synonyms

PiT-1, Glvr1, Glvr-1

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129198764-129211616 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129208004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 361 (N361D)

Ref Sequence

ENSEMBL: ENSMUSP00000105944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028880] [ENSMUST00000110315]

AlphaFold

Q61609

Predicted Effect

probably damaging
Transcript: ENSMUST00000028880
AA Change: N361D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028880
Gene: ENSMUSG00000027397
AA Change: N361D

Domain	Start	End	E-Value	Type
Pfam:PHO4	43	667	1.8e-162	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110315
AA Change: N361D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105944
Gene: ENSMUSG00000027397
AA Change: N361D

Domain	Start	End	E-Value	Type
Pfam:PHO4	43	667	1.3e-132	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144025

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit mid-gestation lethality associated with abnormal vitelline vasculature, growth retardation, and anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Slc20a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Slc20a1	APN	2	129209226	splice site	probably benign
IGL02563:Slc20a1	APN	2	129207684	missense	probably benign
R0037:Slc20a1	UTSW	2	129210772	missense	probably damaging	1.00
R0514:Slc20a1	UTSW	2	129199891	missense	probably damaging	1.00
R1221:Slc20a1	UTSW	2	129208404	missense	probably benign	0.44
R2099:Slc20a1	UTSW	2	129207838	missense	probably benign	0.00
R2122:Slc20a1	UTSW	2	129199819	missense	possibly damaging	0.86
R2261:Slc20a1	UTSW	2	129206474	missense	possibly damaging	0.85
R2426:Slc20a1	UTSW	2	129208230	missense	probably benign	0.13
R3428:Slc20a1	UTSW	2	129200282	missense	probably benign
R4712:Slc20a1	UTSW	2	129199691	splice site	probably benign
R4981:Slc20a1	UTSW	2	129199999	missense	probably damaging	1.00
R5213:Slc20a1	UTSW	2	129200509	missense	probably damaging	1.00
R5395:Slc20a1	UTSW	2	129208337	missense	probably damaging	1.00
R5506:Slc20a1	UTSW	2	129210819	missense	probably benign	0.00
R6266:Slc20a1	UTSW	2	129209894	missense	possibly damaging	0.78
R7022:Slc20a1	UTSW	2	129200059	missense	probably damaging	0.99
R7091:Slc20a1	UTSW	2	129208272	missense	possibly damaging	0.85
R7175:Slc20a1	UTSW	2	129210742	missense	probably damaging	1.00
R7250:Slc20a1	UTSW	2	129209924	missense	possibly damaging	0.78
R7914:Slc20a1	UTSW	2	129207837	missense	probably benign	0.01
R7915:Slc20a1	UTSW	2	129207837	missense	probably benign	0.01
R7916:Slc20a1	UTSW	2	129207837	missense	probably benign	0.01
R7919:Slc20a1	UTSW	2	129207837	missense	probably benign	0.01
R8051:Slc20a1	UTSW	2	129208200	missense	possibly damaging	0.92
R8098:Slc20a1	UTSW	2	129209121	missense	probably damaging	1.00
R8181:Slc20a1	UTSW	2	129209127	missense	probably damaging	1.00
R8420:Slc20a1	UTSW	2	129199864	missense	probably damaging	1.00
R9124:Slc20a1	UTSW	2	129209222	missense	probably damaging	1.00
R9532:Slc20a1	UTSW	2	129200013	missense	probably damaging	1.00
X0067:Slc20a1	UTSW	2	129199888	missense	probably damaging	1.00
Z1176:Slc20a1	UTSW	2	129204100	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGACGGTGTCATTCAAACTTGG -3'
(R):5'- TTGCGTCTCAAGGGCTTGTC -3'

Sequencing Primer
(F):5'- CATTCAAACTTGGTGACCTGGAG -3'
(R):5'- GGCTTGTCCCCAGAATCTC -3'

Posted On

2018-02-28