Mutagenetix > Incidental Mutation

Incidental Mutation 'R7516:Slc3a1'

582493

Institutional Source

Beutler Lab

Gene Symbol

Slc3a1

Ensembl Gene

ENSMUSG00000024131

Gene Name

solute carrier family 3, member 1

Synonyms

NTAA, D2H

MMRRC Submission

045589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85335804-85371664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85371190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 581 (Y581H)

Ref Sequence

ENSEMBL: ENSMUSP00000024944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024944] [ENSMUST00000072406] [ENSMUST00000171795]

AlphaFold

Q91WV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000024944
AA Change: Y581H

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

SMART Domains

Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: Y581H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072406

SMART Domains

Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S9_N	15	339	7.4e-28	PFAM
Pfam:Peptidase_S9	399	623	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171795

SMART Domains

Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S9_N	86	428	5.2e-30	PFAM
Pfam:Peptidase_S9	486	710	2e-35	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,868,125 (GRCm39)	I407F	probably damaging	Het
Agbl1	A	G	7: 76,075,669 (GRCm39)	Y437C	probably damaging	Het
Alkbh5	T	C	11: 60,429,979 (GRCm39)	V244A	probably damaging	Het
Arap1	T	C	7: 101,058,538 (GRCm39)	F1390L	probably benign	Het
Asph	T	C	4: 9,630,940 (GRCm39)	D136G	possibly damaging	Het
Atp8a2	A	T	14: 60,094,516 (GRCm39)	Y841N	probably damaging	Het
Cald1	A	T	6: 34,686,492 (GRCm39)		probably benign	Het
Capn11	A	G	17: 45,949,766 (GRCm39)	I400T	possibly damaging	Het
Cdh18	T	A	15: 23,259,684 (GRCm39)		probably null	Het
Ces2h	T	A	8: 105,743,458 (GRCm39)	L204Q	probably damaging	Het
Chrna3	G	A	9: 54,922,653 (GRCm39)	A385V	probably benign	Het
Clca4a	A	T	3: 144,672,009 (GRCm39)	L311Q	probably damaging	Het
Clip1	A	G	5: 123,721,448 (GRCm39)	V1149A	probably benign	Het
Clip3	T	A	7: 29,998,268 (GRCm39)	V238D	possibly damaging	Het
Col12a1	A	G	9: 79,520,192 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,562,992 (GRCm39)	V54A	probably benign	Het
Crem	T	C	18: 3,299,141 (GRCm39)		probably null	Het
Dennd5b	T	C	6: 148,969,878 (GRCm39)	I192V	probably benign	Het
Dst	A	G	1: 34,209,560 (GRCm39)	N1209S	probably benign	Het
Ero1a	T	A	14: 45,525,480 (GRCm39)	M385L	probably benign	Het
Fam13a	A	T	6: 58,932,248 (GRCm39)	V375D	probably damaging	Het
Fgfbp3	T	A	19: 36,896,324 (GRCm39)	Y98F	possibly damaging	Het
Frem3	T	C	8: 81,338,712 (GRCm39)	V335A	probably damaging	Het
Gm19410	T	A	8: 36,263,433 (GRCm39)	D951E	probably benign	Het
Gpatch1	T	C	7: 35,007,625 (GRCm39)	D145G	probably benign	Het
H60c	G	T	10: 3,209,746 (GRCm39)	C180*	probably null	Het
Hmcn1	T	C	1: 150,498,718 (GRCm39)	T4054A	probably benign	Het
Hrg	A	G	16: 22,780,048 (GRCm39)	Y442C	unknown	Het
Hspg2	C	T	4: 137,269,931 (GRCm39)	R2327C	possibly damaging	Het
Klhl31	G	T	9: 77,558,429 (GRCm39)	A382S	probably damaging	Het
Knl1	T	C	2: 118,901,179 (GRCm39)	V960A	probably damaging	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Me3	G	T	7: 89,497,183 (GRCm39)	E395*	probably null	Het
Morc2b	G	A	17: 33,356,435 (GRCm39)	H446Y	probably benign	Het
Mroh7	A	T	4: 106,548,316 (GRCm39)	M1054K	probably benign	Het
Ms4a6b	T	C	19: 11,506,907 (GRCm39)	V232A	probably benign	Het
Nmt2	C	A	2: 3,313,767 (GRCm39)	D224E	probably damaging	Het
Nox4	C	A	7: 86,970,905 (GRCm39)	R261S	probably benign	Het
Obscn	T	A	11: 59,015,416 (GRCm39)	K1019*	probably null	Het
Or4a15	T	A	2: 89,193,719 (GRCm39)	N18I	probably benign	Het
Or4g7	T	A	2: 111,309,282 (GRCm39)	V51D	probably benign	Het
Or5p67	G	A	7: 107,922,223 (GRCm39)	S220F	probably damaging	Het
Or8k24	C	T	2: 86,216,328 (GRCm39)	V145I	probably benign	Het
Pcdha11	A	T	18: 37,144,671 (GRCm39)	N254I	probably damaging	Het
Pck2	T	A	14: 55,779,913 (GRCm39)	I54N	probably benign	Het
Pkd1l3	T	A	8: 110,361,861 (GRCm39)	W978R	probably damaging	Het
Plxna4	T	C	6: 32,214,703 (GRCm39)	T593A	probably benign	Het
Podn	G	A	4: 107,879,321 (GRCm39)	R266W	probably damaging	Het
Ptpn22	A	G	3: 103,792,854 (GRCm39)	D335G	probably benign	Het
Pxn	A	G	5: 115,644,922 (GRCm39)	D3G	unknown	Het
Rapgefl1	T	G	11: 98,736,960 (GRCm39)	V320G	probably benign	Het
Rel	A	G	11: 23,692,785 (GRCm39)	I416T	probably benign	Het
Sema5b	A	G	16: 35,471,540 (GRCm39)	N378D	probably benign	Het
Sh3bp4	C	A	1: 89,073,368 (GRCm39)	L739M	probably damaging	Het
Skint2	A	T	4: 112,483,168 (GRCm39)	D191V	probably damaging	Het
Smcr8	G	T	11: 60,670,814 (GRCm39)	C654F	probably benign	Het
Spta1	A	C	1: 174,025,349 (GRCm39)	Q738P	probably damaging	Het
Sptlc3	C	A	2: 139,431,438 (GRCm39)	A320D	probably benign	Het
Thnsl2	T	A	6: 71,108,990 (GRCm39)	K274*	probably null	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmtc4	G	A	14: 123,180,735 (GRCm39)	A326V	possibly damaging	Het
Tnks2	T	A	19: 36,849,064 (GRCm39)	S179T	possibly damaging	Het
Trim34b	G	T	7: 103,978,918 (GRCm39)	C55F	probably damaging	Het
Trpm4	T	A	7: 44,954,444 (GRCm39)	E1129V	probably damaging	Het
Tvp23b	T	C	11: 62,782,867 (GRCm39)	S188P	possibly damaging	Het
Usp1	A	G	4: 98,822,356 (GRCm39)	T557A	probably damaging	Het
Vmn2r66	C	T	7: 84,661,176 (GRCm39)	C18Y	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,852 (GRCm39)	T611S	probably damaging	Het
Vps13c	T	C	9: 67,862,289 (GRCm39)	S2969P	possibly damaging	Het
Wdr74	T	A	19: 8,713,554 (GRCm39)	C62*	probably null	Het
Wfikkn1	A	T	17: 26,097,020 (GRCm39)	C435S	probably damaging	Het
Zbtb45	A	T	7: 12,740,269 (GRCm39)	F449I	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
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
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'- TACTTGGACAGTGTAAAGGGCAAAC -3'
(R):5'- TCTCCAGAGAAATGGCACGG -3'

Sequencing Primer
(F):5'- GGGGGTGTGGATAATTCTTAAAATC -3'
(R):5'- GGTGTCAACAGCACTGCCTTTG -3'

Posted On

2019-10-17