Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Slc7a9'

90033

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc7a9

Ensembl Gene

ENSMUSG00000030492

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 9

Synonyms

b, +AT, b, + amino acid transporter, CSNU3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

35148221-35165461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35153589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 197 (V197F)

Ref Sequence

ENSEMBL: ENSMUSP00000112726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032703] [ENSMUST00000118383] [ENSMUST00000118969] [ENSMUST00000141245]

AlphaFold

Q9QXA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032703
AA Change: V197F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: V197F

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	30	456	9e-67	PFAM
Pfam:AA_permease	35	468	4.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118383
AA Change: V197F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: V197F

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	30	456	9e-67	PFAM
Pfam:AA_permease	35	468	4.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118969
AA Change: V197F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: V197F

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	30	457	1.8e-65	PFAM
Pfam:AA_permease	35	468	2.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147026

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	Het

Other mutations in Slc7a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Slc7a9	APN	7	35,160,312 (GRCm39)	missense	probably damaging	0.97
IGL01860:Slc7a9	APN	7	35,156,485 (GRCm39)	missense	probably damaging	1.00
IGL02291:Slc7a9	APN	7	35,156,439 (GRCm39)	missense	probably damaging	1.00
IGL02436:Slc7a9	APN	7	35,156,478 (GRCm39)	missense	probably benign	0.23
IGL02525:Slc7a9	APN	7	35,152,860 (GRCm39)	missense	probably damaging	1.00
IGL03296:Slc7a9	APN	7	35,151,852 (GRCm39)	missense	probably damaging	1.00
R0006:Slc7a9	UTSW	7	35,169,525 (GRCm39)	unclassified	probably benign
R1703:Slc7a9	UTSW	7	35,154,000 (GRCm39)	missense	probably benign
R1886:Slc7a9	UTSW	7	35,152,828 (GRCm39)	missense	probably damaging	0.96
R1886:Slc7a9	UTSW	7	35,152,827 (GRCm39)	missense	possibly damaging	0.94
R1907:Slc7a9	UTSW	7	35,149,279 (GRCm39)	missense	probably benign	0.00
R2027:Slc7a9	UTSW	7	35,153,562 (GRCm39)	missense	probably damaging	0.97
R2133:Slc7a9	UTSW	7	35,152,918 (GRCm39)	missense	probably damaging	0.99
R2937:Slc7a9	UTSW	7	35,163,167 (GRCm39)	nonsense	probably null
R3684:Slc7a9	UTSW	7	35,152,926 (GRCm39)	missense	probably benign	0.02
R4506:Slc7a9	UTSW	7	35,152,845 (GRCm39)	missense	probably damaging	1.00
R4731:Slc7a9	UTSW	7	35,152,988 (GRCm39)	nonsense	probably null
R4732:Slc7a9	UTSW	7	35,152,988 (GRCm39)	nonsense	probably null
R4733:Slc7a9	UTSW	7	35,152,988 (GRCm39)	nonsense	probably null
R5007:Slc7a9	UTSW	7	35,153,554 (GRCm39)	missense	probably benign	0.09
R6175:Slc7a9	UTSW	7	35,165,277 (GRCm39)	missense	probably damaging	1.00
R6405:Slc7a9	UTSW	7	35,154,064 (GRCm39)	missense	probably damaging	1.00
R6701:Slc7a9	UTSW	7	35,159,274 (GRCm39)	missense	probably damaging	1.00
R6932:Slc7a9	UTSW	7	35,151,936 (GRCm39)	missense	probably benign	0.16
R7760:Slc7a9	UTSW	7	35,156,500 (GRCm39)	missense	possibly damaging	0.88
R8121:Slc7a9	UTSW	7	35,153,542 (GRCm39)	missense	probably damaging	1.00
R8177:Slc7a9	UTSW	7	35,155,558 (GRCm39)	missense	probably benign
R8185:Slc7a9	UTSW	7	35,151,842 (GRCm39)	missense	probably damaging	1.00
R8416:Slc7a9	UTSW	7	35,152,858 (GRCm39)	missense	probably benign	0.41
R8732:Slc7a9	UTSW	7	35,156,443 (GRCm39)	missense	probably benign	0.26
R8803:Slc7a9	UTSW	7	35,163,143 (GRCm39)	missense	possibly damaging	0.90
R9052:Slc7a9	UTSW	7	35,153,017 (GRCm39)	missense	probably benign	0.03
X0022:Slc7a9	UTSW	7	35,151,927 (GRCm39)	missense	possibly damaging	0.91
Z1177:Slc7a9	UTSW	7	35,152,995 (GRCm39)	missense	possibly damaging	0.76

Posted On

2013-12-03