Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Slc3a1'

61928

Institutional Source

Beutler Lab

Gene Symbol

Slc3a1

Ensembl Gene

ENSMUSG00000024131

Gene Name

solute carrier family 3, member 1

Synonyms

NTAA, D2H

MMRRC Submission

038847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0662 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

85335804-85371664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85344635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

Ref Sequence

ENSEMBL: ENSMUSP00000024944 (fasta)

Gene Model

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

AlphaFold

Q91WV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024944
AA Change: E267G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: E267G

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,338 (GRCm39)	S241P	probably benign	Het
Ankrd53	G	T	6: 83,740,625 (GRCm39)	V83L	probably damaging	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
C4b	G	A	17: 34,949,862 (GRCm39)	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,367,582 (GRCm39)	I154T	probably damaging	Het
Cand2	A	G	6: 115,764,171 (GRCm39)	D315G	probably benign	Het
Celsr2	A	T	3: 108,305,836 (GRCm39)	S2089R	probably damaging	Het
Chd9	A	C	8: 91,704,304 (GRCm39)	K247Q	probably damaging	Het
Chi3l1	A	C	1: 134,116,311 (GRCm39)	S263R	probably damaging	Het
Clec12b	A	C	6: 129,353,200 (GRCm39)	C262W	probably damaging	Het
Cpsf7	T	C	19: 10,503,372 (GRCm39)	M1T	probably null	Het
Cul3	T	C	1: 80,249,282 (GRCm39)	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,802,964 (GRCm39)	V251A	possibly damaging	Het
Dennd2b	G	T	7: 109,156,633 (GRCm39)	P39Q	probably damaging	Het
Eno2	A	T	6: 124,740,774 (GRCm39)	F218I	probably damaging	Het
Frmd6	A	T	12: 70,946,218 (GRCm39)	R549*	probably null	Het
Fyb2	G	A	4: 104,852,895 (GRCm39)	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,514,164 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,482,910 (GRCm39)	I132T	probably benign	Het
Itga7	G	T	10: 128,789,400 (GRCm39)	R981L	probably damaging	Het
Itgbl1	T	A	14: 124,065,306 (GRCm39)	N153K	probably damaging	Het
Itih1	T	C	14: 30,655,317 (GRCm39)	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcna2	A	T	3: 107,012,717 (GRCm39)	T433S	probably benign	Het
Map4k5	A	G	12: 69,859,927 (GRCm39)	V673A	probably damaging	Het
Mmp27	T	A	9: 7,577,651 (GRCm39)	V281E	probably benign	Het
Nr2c1	A	T	10: 94,026,600 (GRCm39)	I492F	probably damaging	Het
Or14c39	A	G	7: 86,343,838 (GRCm39)	Y58C	possibly damaging	Het
Or2ag19	A	T	7: 106,443,856 (GRCm39)	I13F	probably benign	Het
Or2r3	C	T	6: 42,448,708 (GRCm39)	V135M	possibly damaging	Het
Or2y3	A	G	17: 38,393,824 (GRCm39)	I15T	probably benign	Het
Or7d10	G	C	9: 19,831,796 (GRCm39)	C97S	probably damaging	Het
Or7e170	T	C	9: 19,795,248 (GRCm39)	M118V	probably benign	Het
Or8b47	T	A	9: 38,435,322 (GRCm39)	M98K	probably damaging	Het
Pank3	T	C	11: 35,669,477 (GRCm39)	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,125,767 (GRCm39)	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,249,477 (GRCm39)	V310M	probably damaging	Het
Ryr1	A	T	7: 28,799,614 (GRCm39)	D906E	probably damaging	Het
Sez6l	A	T	5: 112,621,288 (GRCm39)	L262Q	probably damaging	Het
Shprh	G	A	10: 11,062,591 (GRCm39)	V1233I	probably damaging	Het
Slc5a5	T	A	8: 71,336,519 (GRCm39)	T616S	probably benign	Het
Syne3	T	G	12: 104,927,769 (GRCm39)	E318A	probably benign	Het
Tecpr2	A	G	12: 110,862,662 (GRCm39)	T25A	probably benign	Het
Ubxn1	T	A	19: 8,852,561 (GRCm39)		probably null	Het
Unc5b	C	A	10: 60,608,362 (GRCm39)	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,083,290 (GRCm39)	T278A	probably benign	Het
Utp14b	A	G	1: 78,642,716 (GRCm39)	T205A	probably damaging	Het
Vmn1r219	T	C	13: 23,347,623 (GRCm39)	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 85,879,578 (GRCm39)	V241M	probably benign	Het
Zbtb24	G	A	10: 41,338,275 (GRCm39)	G429D	probably damaging	Het
Zdhhc2	T	C	8: 40,900,139 (GRCm39)	S68P	probably damaging	Het
Zfp719	G	A	7: 43,233,678 (GRCm39)	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,311,950 (GRCm39)	N221S	probably benign	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
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
R4740:Slc3a1	UTSW	17	85,354,181 (GRCm39)	missense	probably benign	0.00
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'- ACTTCGCGCTCTCCCTAGAAAGAC -3'
(R):5'- GGGTGTTCACACTCAGGTTCTCAC -3'

Sequencing Primer
(F):5'- GACAGCTCCAAGGATTTATGC -3'
(R):5'- CTCAGGTTCCCACTAATGGAGAAG -3'

Posted On

2013-07-30