Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Slc7a9'

390208

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

042598-MU

Accession Numbers

Essential gene?

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

Stock #

R5007 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

35148221-35165461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35153554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 185 (M185K)

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: M185K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: M185K

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: M185K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: M185K

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: M185K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: M185K

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,827,590 (GRCm39)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,217,393 (GRCm39)	Y134C	probably damaging	Het
Alg9	T	A	9: 50,699,524 (GRCm39)	M183K	probably damaging	Het
Ambra1	T	C	2: 91,602,655 (GRCm39)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,504,466 (GRCm39)	V376D	probably benign	Het
Ano4	A	C	10: 88,948,807 (GRCm39)	V166G	probably benign	Het
Aox3	T	A	1: 58,202,583 (GRCm39)	C730S	probably benign	Het
Apc	T	A	18: 34,446,016 (GRCm39)	Y953N	probably damaging	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,610,135 (GRCm39)		probably null	Het
B3gnt9	A	G	8: 105,981,122 (GRCm39)	Y89H	probably damaging	Het
Cd38	T	G	5: 44,063,506 (GRCm39)	F200V	probably damaging	Het
Cep170	G	T	1: 176,597,380 (GRCm39)	R388S	probably benign	Het
Col22a1	A	T	15: 71,816,271 (GRCm39)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,378,463 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,463,695 (GRCm39)	S114T	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dmtf1	T	C	5: 9,172,439 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,362,283 (GRCm39)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,009,297 (GRCm39)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,698 (GRCm39)	R136L	probably benign	Het
Eml5	A	T	12: 98,797,224 (GRCm39)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,685,853 (GRCm39)	L179*	probably null	Het
Flot1	G	T	17: 36,135,267 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,571,866 (GRCm39)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,859,049 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,666,863 (GRCm39)	D195G	probably benign	Het
Golga4	T	G	9: 118,387,368 (GRCm39)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,215,868 (GRCm39)	C33*	probably null	Het
Hectd1	A	T	12: 51,849,443 (GRCm39)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 35,177,086 (GRCm39)	A300T	probably benign	Het
Igf2bp2	A	G	16: 21,898,246 (GRCm39)	I233T	probably damaging	Het
Iqce	C	A	5: 140,661,003 (GRCm39)	A491S	possibly damaging	Het
Irak3	A	G	10: 119,982,334 (GRCm39)		probably null	Het
Kcnip1	T	A	11: 33,592,495 (GRCm39)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,640 (GRCm39)	R393Q	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Map2	T	C	1: 66,452,448 (GRCm39)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,706,380 (GRCm39)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,468,890 (GRCm39)	I385F	probably benign	Het
Mical3	A	C	6: 121,015,030 (GRCm39)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,100,478 (GRCm39)	*39R	probably null	Het
Mre11a	A	G	9: 14,721,116 (GRCm39)	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nat1	T	G	8: 67,944,077 (GRCm39)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,161,905 (GRCm39)	D851G	probably damaging	Het
Npas4	A	C	19: 5,039,684 (GRCm39)	V54G	possibly damaging	Het
Or13n4	T	C	7: 106,423,364 (GRCm39)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,339,292 (GRCm39)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,770,737 (GRCm39)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,708,906 (GRCm39)	N803S	probably benign	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Ppm1l	T	A	3: 69,224,931 (GRCm39)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,864,411 (GRCm39)	V658E	probably damaging	Het
Prr12	C	T	7: 44,699,225 (GRCm39)		probably benign	Het
Prxl2b	A	G	4: 154,981,531 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,444,137 (GRCm39)	V1489A	probably benign	Het
Ryr1	T	A	7: 28,768,540 (GRCm39)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,551,950 (GRCm39)	L413P	probably damaging	Het
Stag2	C	T	X: 41,355,130 (GRCm39)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,290,298 (GRCm39)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,086,868 (GRCm39)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,344,550 (GRCm39)	C17*	probably null	Het
Vmn2r68	C	A	7: 84,881,622 (GRCm39)	R486L	probably benign	Het
Xkr9	T	A	1: 13,771,387 (GRCm39)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,925,704 (GRCm39)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,259,362 (GRCm39)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 75,875,048 (GRCm39)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,729,772 (GRCm39)	C602S	probably benign	Het
Zfp616	A	T	11: 73,974,643 (GRCm39)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,783,867 (GRCm39)	I862M	probably benign	Het
Zfp715	T	C	7: 42,949,019 (GRCm39)	T314A	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
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
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
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'- TACTCCCTTCACTGAGGGTG -3'
(R):5'- AGAAGGCTATGACTTGTGACCC -3'

Sequencing Primer
(F):5'- CCTTCACTGAGGGTGGGGAG -3'
(R):5'- ATCAGTCAGTCAGTCAGTCAGTC -3'

Posted On

2016-06-06