Mutagenetix > Incidental Mutation

Incidental Mutation 'R4740:Slc3a1'

359660

Institutional Source

Beutler Lab

Gene Symbol

Slc3a1

Ensembl Gene

ENSMUSG00000024131

Gene Name

solute carrier family 3, member 1

Synonyms

NTAA, D2H

MMRRC Submission

041965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85335804-85371664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85354181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 335 (I335V)

Ref Sequence

ENSEMBL: ENSMUSP00000024944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024944]

AlphaFold

Q91WV7

Predicted Effect

probably benign
Transcript: ENSMUST00000024944
AA Change: I335V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: I335V

Domain	Start	End	E-Value	Type
transmembrane domain	87	109	N/A	INTRINSIC
Aamy	124	504	6.7e-110	SMART

Meta Mutation Damage Score

0.0805

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	C	T	16: 21,513,146 (GRCm39)	A4T	probably benign	Het
Aacs	T	C	5: 125,583,316 (GRCm39)	S291P	probably damaging	Het
Abcb1a	T	C	5: 8,752,280 (GRCm39)		probably null	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Baiap2l2	T	A	15: 79,143,951 (GRCm39)	Y381F	probably benign	Het
Chd6	A	T	2: 160,812,103 (GRCm39)	D1363E	probably benign	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cir1	T	C	2: 73,142,867 (GRCm39)		probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Clec4d	T	A	6: 123,245,072 (GRCm39)	H117Q	probably damaging	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Coro6	A	G	11: 77,360,025 (GRCm39)	E362G	possibly damaging	Het
Ctr9	T	A	7: 110,634,578 (GRCm39)	C196S	probably benign	Het
Cyp2c55	A	G	19: 39,007,173 (GRCm39)	K190E	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dnah11	A	G	12: 118,084,279 (GRCm39)	F1242L	probably benign	Het
Dnah2	A	G	11: 69,348,868 (GRCm39)	W2534R	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Eml4	T	G	17: 83,717,459 (GRCm39)	D10E	probably damaging	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Epn1	A	G	7: 5,093,012 (GRCm39)	D108G	probably damaging	Het
Eps15	A	G	4: 109,200,387 (GRCm39)	Y2C	probably damaging	Het
Fam135b	C	T	15: 71,335,920 (GRCm39)	V425I	probably benign	Het
Frem2	G	A	3: 53,443,240 (GRCm39)	A2508V	probably benign	Het
Fzd3	T	A	14: 65,473,193 (GRCm39)	M192L	possibly damaging	Het
Gls	C	T	1: 52,271,947 (GRCm39)	A69T	probably damaging	Het
Gm10051	T	A	5: 133,504,113 (GRCm39)		noncoding transcript	Het
Gm9271	A	G	7: 39,013,346 (GRCm39)		noncoding transcript	Het
Gramd1b	T	C	9: 40,227,128 (GRCm39)		probably null	Het
Gvin-ps6	G	A	7: 106,022,782 (GRCm39)		noncoding transcript	Het
H2-T23	A	T	17: 36,343,016 (GRCm39)		probably benign	Het
H2-T5	T	A	17: 36,478,448 (GRCm39)	I195F	probably damaging	Het
Hmbox1	G	A	14: 65,134,483 (GRCm39)	T39I	probably damaging	Het
Hmx1	A	G	5: 35,549,115 (GRCm39)	E136G	probably damaging	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	G	8: 111,173,071 (GRCm39)	N918S	probably benign	Het
Igkv5-37	T	A	6: 69,940,306 (GRCm39)	S113C	probably damaging	Het
Il36rn	T	C	2: 24,167,503 (GRCm39)		probably benign	Het
Mab21l4	A	C	1: 93,083,890 (GRCm39)	M189R	probably benign	Het
Marco	G	T	1: 120,422,499 (GRCm39)	T61K	probably damaging	Het
Med1	T	A	11: 98,071,090 (GRCm39)	R86*	probably null	Het
Mertk	A	G	2: 128,593,914 (GRCm39)	Y306C	probably damaging	Het
Mgat4c	T	C	10: 102,224,265 (GRCm39)	F160L	probably damaging	Het
Midn	A	T	10: 79,987,238 (GRCm39)	E88V	probably null	Het
Muc4	G	A	16: 32,596,277 (GRCm39)	R3163H	possibly damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nhlrc4	T	C	17: 26,162,577 (GRCm39)	T57A	probably benign	Het
Nlrp1a	T	C	11: 71,004,466 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,730,879 (GRCm39)	K270*	probably null	Het
Or10a3	T	G	7: 108,480,689 (GRCm39)	E41D	probably benign	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or8g26	T	A	9: 39,095,664 (GRCm39)	Y60*	probably null	Het
Or8k40	C	T	2: 86,584,155 (GRCm39)	C309Y	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pabpc4l	C	G	3: 46,400,570 (GRCm39)	G358A	possibly damaging	Het
Pabpc4l	C	T	3: 46,400,579 (GRCm39)	R355H	probably benign	Het
Parp1	T	C	1: 180,417,033 (GRCm39)	S606P	probably damaging	Het
Pkhd1	A	G	1: 20,594,354 (GRCm39)	V1253A	probably benign	Het
Psg29	G	A	7: 16,942,458 (GRCm39)	R153H	probably benign	Het
Rbm25	A	G	12: 83,691,181 (GRCm39)	M58V	possibly damaging	Het
Rbm28	T	C	6: 29,125,353 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,671,933 (GRCm39)	S3436P	possibly damaging	Het
Slc4a4	T	C	5: 89,373,753 (GRCm39)	F953S	probably damaging	Het
Spata20	A	G	11: 94,375,404 (GRCm39)	I130T	possibly damaging	Het
Spata31h1	T	C	10: 82,119,481 (GRCm39)	T4510A	possibly damaging	Het
Srcap	T	C	7: 127,148,471 (GRCm39)	S1879P	probably damaging	Het
St18	G	C	1: 6,887,828 (GRCm39)	V466L	probably benign	Het
Stard3nl	A	T	13: 19,551,948 (GRCm39)	M166K	probably benign	Het
Stard3nl	G	A	13: 19,560,736 (GRCm39)	T13M	probably damaging	Het
Stil	A	G	4: 114,863,979 (GRCm39)	T74A	probably benign	Het
Syt6	T	G	3: 103,532,972 (GRCm39)	M367R	probably damaging	Het
Tacc1	T	C	8: 25,672,581 (GRCm39)	T125A	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tcaf1	A	G	6: 42,663,809 (GRCm39)	S24P	probably benign	Het
Trim75	T	G	8: 65,435,199 (GRCm39)	Y417S	probably damaging	Het
Ttll12	T	C	15: 83,464,321 (GRCm39)	Y503C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Zfp593	T	C	4: 133,972,077 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	probably damaging	Het

Other mutations in Slc3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Slc3a1	APN	17	85,368,261 (GRCm39)	missense	probably damaging	1.00
IGL00647:Slc3a1	APN	17	85,371,233 (GRCm39)	missense	probably damaging	0.99
IGL02755:Slc3a1	APN	17	85,344,605 (GRCm39)	missense	probably damaging	1.00
IGL03079:Slc3a1	APN	17	85,367,251 (GRCm39)	nonsense	probably null
IGL03390:Slc3a1	APN	17	85,340,205 (GRCm39)	missense	probably damaging	1.00
R0031:Slc3a1	UTSW	17	85,340,274 (GRCm39)	missense	probably damaging	1.00
R0097:Slc3a1	UTSW	17	85,340,288 (GRCm39)	missense	probably damaging	0.99
R0097:Slc3a1	UTSW	17	85,340,288 (GRCm39)	missense	probably damaging	0.99
R0363:Slc3a1	UTSW	17	85,340,273 (GRCm39)	missense	probably damaging	1.00
R0531:Slc3a1	UTSW	17	85,336,077 (GRCm39)	missense	possibly damaging	0.66
R0636:Slc3a1	UTSW	17	85,340,222 (GRCm39)	missense	possibly damaging	0.78
R0662:Slc3a1	UTSW	17	85,344,635 (GRCm39)	missense	possibly damaging	0.89
R0725:Slc3a1	UTSW	17	85,368,263 (GRCm39)	nonsense	probably null
R0930:Slc3a1	UTSW	17	85,367,171 (GRCm39)	missense	probably benign	0.01
R1141:Slc3a1	UTSW	17	85,336,077 (GRCm39)	missense	possibly damaging	0.66
R2025:Slc3a1	UTSW	17	85,340,273 (GRCm39)	missense	probably damaging	1.00
R2271:Slc3a1	UTSW	17	85,371,220 (GRCm39)	missense	probably benign	0.00
R4196:Slc3a1	UTSW	17	85,368,306 (GRCm39)	missense	probably damaging	1.00
R5049:Slc3a1	UTSW	17	85,340,273 (GRCm39)	missense	probably damaging	1.00
R5255:Slc3a1	UTSW	17	85,335,881 (GRCm39)	splice site	probably null
R5261:Slc3a1	UTSW	17	85,359,403 (GRCm39)	missense	probably damaging	1.00
R5601:Slc3a1	UTSW	17	85,340,319 (GRCm39)	missense	probably benign	0.00
R5853:Slc3a1	UTSW	17	85,340,008 (GRCm39)	missense	probably damaging	1.00
R6063:Slc3a1	UTSW	17	85,335,951 (GRCm39)	missense	probably benign
R6332:Slc3a1	UTSW	17	85,335,860 (GRCm39)	start codon destroyed	probably damaging	0.99
R7162:Slc3a1	UTSW	17	85,371,442 (GRCm39)	nonsense	probably null
R7269:Slc3a1	UTSW	17	85,339,873 (GRCm39)	missense	probably damaging	1.00
R7516:Slc3a1	UTSW	17	85,371,190 (GRCm39)	missense	probably damaging	1.00
R7807:Slc3a1	UTSW	17	85,371,371 (GRCm39)	missense	probably benign	0.09
R8269:Slc3a1	UTSW	17	85,339,982 (GRCm39)	missense	probably benign	0.00
R8351:Slc3a1	UTSW	17	85,335,924 (GRCm39)	missense	possibly damaging	0.68
R8361:Slc3a1	UTSW	17	85,344,640 (GRCm39)	nonsense	probably null
R8451:Slc3a1	UTSW	17	85,335,924 (GRCm39)	missense	possibly damaging	0.68
R8543:Slc3a1	UTSW	17	85,335,925 (GRCm39)	missense	probably benign	0.42
R9764:Slc3a1	UTSW	17	85,371,419 (GRCm39)	missense	probably damaging	1.00
X0020:Slc3a1	UTSW	17	85,336,236 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTGTTAATGTCCCAGC -3'
(R):5'- ATCTTAGACTAAAACCGAGGCC -3'

Sequencing Primer
(F):5'- CACTGTTAATGTCCCAGCTATTG -3'
(R):5'- GATAGAGACTGCTCACTGCCCTTG -3'

Posted On

2015-11-11