Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Slc7a9'

189885

Institutional Source

Beutler Lab

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

MMRRC Submission

039736-MU

Accession Numbers

Essential gene?

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

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35148221-35165461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35154000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 208 (Q208K)

Ref Sequence

ENSEMBL: ENSMUSP00000112726 (fasta)

Gene Model

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

AlphaFold

Q9QXA6

Predicted Effect

probably benign
Transcript: ENSMUST00000032703
AA Change: Q208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: Q208K

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 benign
Transcript: ENSMUST00000118383
AA Change: Q208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: Q208K

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 benign
Transcript: ENSMUST00000118969
AA Change: Q208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: Q208K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,431 (GRCm39)	Y401*	probably null	Het
4932415M13Rik	C	A	17: 54,032,065 (GRCm39)		noncoding transcript	Het
Abtb3	A	G	10: 85,223,248 (GRCm39)	D19G	unknown	Het
Acoxl	T	A	2: 127,820,692 (GRCm39)	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,584,924 (GRCm39)	C915R	probably damaging	Het
Adgra3	C	T	5: 50,164,117 (GRCm39)	M287I	probably benign	Het
Afg1l	T	G	10: 42,276,395 (GRCm39)	D250A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Amfr	T	C	8: 94,700,871 (GRCm39)	T530A	probably benign	Het
Ank2	C	T	3: 126,723,415 (GRCm39)	V971M	probably damaging	Het
App	A	G	16: 84,762,656 (GRCm39)	S656P	probably damaging	Het
Arid5a	T	A	1: 36,358,656 (GRCm39)		probably null	Het
Asic5	T	A	3: 81,907,029 (GRCm39)	V60D	possibly damaging	Het
Atm	G	T	9: 53,412,000 (GRCm39)	H1019N	probably benign	Het
Cep250	A	G	2: 155,807,466 (GRCm39)	K277R	probably benign	Het
Chrna7	C	T	7: 62,749,255 (GRCm39)	R409H	probably damaging	Het
Chrng	A	T	1: 87,138,628 (GRCm39)	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,087,739 (GRCm39)	S199G	probably benign	Het
Clstn2	A	T	9: 97,340,290 (GRCm39)	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,391,181 (GRCm39)		probably benign	Het
Cyp2c69	T	A	19: 39,864,810 (GRCm39)	I223F	probably benign	Het
Dennd1b	A	T	1: 139,097,492 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,917,575 (GRCm39)	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,213,463 (GRCm39)	M506V	probably benign	Het
Ecsit	A	G	9: 21,986,107 (GRCm39)	V173A	probably damaging	Het
Fam13b	T	C	18: 34,584,492 (GRCm39)		probably null	Het
Fgl2	T	A	5: 21,577,730 (GRCm39)	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,767,038 (GRCm39)	R503H	probably damaging	Het
Gramd1a	C	T	7: 30,838,959 (GRCm39)	V247M	possibly damaging	Het
Grip2	A	T	6: 91,754,379 (GRCm39)	I632N	probably damaging	Het
Hspg2	T	C	4: 137,286,462 (GRCm39)	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,691,390 (GRCm39)	Y660C	probably benign	Het
Isg15	T	C	4: 156,284,265 (GRCm39)	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,730,870 (GRCm39)	D388E	probably benign	Het
Jhy	T	C	9: 40,856,133 (GRCm39)	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kif21a	A	G	15: 90,833,250 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,142,667 (GRCm39)	Y604N	probably damaging	Het
Lrp3	T	G	7: 34,912,586 (GRCm39)	S34R	possibly damaging	Het
Lrrc37	C	T	11: 103,431,700 (GRCm39)	V1372I	probably benign	Het
Lyn	T	C	4: 3,738,867 (GRCm39)		probably null	Het
Mroh8	C	T	2: 157,113,896 (GRCm39)	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,098,093 (GRCm39)	F977L	probably damaging	Het
Nol8	C	T	13: 49,820,933 (GRCm39)	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,515,845 (GRCm39)	N169K	probably damaging	Het
Oplah	A	G	15: 76,180,867 (GRCm39)	Y1279H	probably benign	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or4c101	T	A	2: 88,390,599 (GRCm39)	M262K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,458 (GRCm39)	N129S	probably benign	Het
Pcyt2	G	T	11: 120,503,894 (GRCm39)	P185T	probably benign	Het
Pdlim2	A	G	14: 70,411,784 (GRCm39)		probably null	Het
Pgs1	T	C	11: 117,905,554 (GRCm39)		probably benign	Het
Qprt	A	G	7: 126,707,343 (GRCm39)	V251A	probably benign	Het
Rasal2	A	C	1: 156,985,170 (GRCm39)	L834R	probably damaging	Het
Reg1	T	C	6: 78,405,432 (GRCm39)	C161R	probably damaging	Het
Rp1	T	A	1: 4,415,392 (GRCm39)	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,155,346 (GRCm39)	D360G	possibly damaging	Het
Sart3	C	A	5: 113,890,280 (GRCm39)	V482F	probably benign	Het
Scarf2	A	G	16: 17,620,713 (GRCm39)	E127G	probably damaging	Het
Serinc5	T	C	13: 92,825,305 (GRCm39)	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,821,087 (GRCm39)	R57L	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sgca	A	T	11: 94,860,217 (GRCm39)	L307M	probably damaging	Het
Slfn10-ps	C	T	11: 82,920,869 (GRCm39)		noncoding transcript	Het
Spam1	A	T	6: 24,796,256 (GRCm39)	D69V	probably damaging	Het
Tanc1	A	G	2: 59,673,365 (GRCm39)	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,123,416 (GRCm39)	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tlx1	A	G	19: 45,144,443 (GRCm39)	D55G	possibly damaging	Het
Tram2	G	T	1: 21,074,458 (GRCm39)	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,744 (GRCm39)	Y325C	probably damaging	Het
Ubac2	T	A	14: 122,142,582 (GRCm39)	S27T	probably benign	Het
Utrn	G	A	10: 12,603,473 (GRCm39)		probably benign	Het
Vnn3	A	T	10: 23,741,828 (GRCm39)	M378L	probably benign	Het
Vps18	T	A	2: 119,119,538 (GRCm39)	D6E	probably benign	Het
Xkr5	T	A	8: 18,989,134 (GRCm39)	I253F	probably benign	Het
Yeats4	A	T	10: 117,051,628 (GRCm39)	C210S	probably benign	Het
Zdhhc20	A	G	14: 58,076,545 (GRCm39)		probably null	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
IGL01538:Slc7a9	APN	7	35,153,589 (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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTTCCAGTGTTTATCACGACAG -3'
(R):5'- GGAAAGGGGACATCTTTGCTCTCTG -3'

Sequencing Primer
(F):5'- gactgactgactgactgactg -3'
(R):5'- ATCTTTGCTCTCTGTAGCAGC -3'

Posted On

2014-05-14