Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Slc3a1'

30212

Institutional Source

Beutler Lab

Gene Symbol

Slc3a1

Ensembl Gene

ENSMUSG00000024131

Gene Name

solute carrier family 3, member 1

Synonyms

NTAA, D2H

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85335804-85371664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85340273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 232 (Y232H)

Ref Sequence

ENSEMBL: ENSMUSP00000024944 (fasta)

Gene Model

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

AlphaFold

Q91WV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024944
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: Y232H

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

Meta Mutation Damage Score

0.8923

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Ciz1	G	C	2: 32,267,375 (GRCm39)		probably null	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	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
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
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'- GAATTTGGTTGCTGCCATCCATGAC -3'
(R):5'- TTTCCAACCTGAAGGGCTTCCCAC -3'

Sequencing Primer
(F):5'- GCTGCCATCCATGACAAAGG -3'
(R):5'- ACTTGTCCAGCTCAGTGAGTC -3'

Posted On

2013-04-24