Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Slc7a9'

528746

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

044819-MU

Accession Numbers

Essential gene?

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

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35148221-35165461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35159274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 327 (L327P)

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: L327P

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

SMART Domains

Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: L327P

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: L327P

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

SMART Domains

Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: L327P

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: L327P

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

SMART Domains

Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: L327P

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: ENSMUST00000147026

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Ddx21	T	C	10: 62,426,470 (GRCm39)	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Hsd17b1	C	A	11: 100,970,981 (GRCm39)	C312*	probably null	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5g9	A	G	2: 85,552,675 (GRCm39)	K309E	probably benign	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,669,751 (GRCm39)	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,336,446 (GRCm39)		probably null	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	probably benign	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
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
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'- GGAGTTGAGCAGGTATCCACTC -3'
(R):5'- TGGCTCTCTCAGAAAGCCTG -3'

Sequencing Primer
(F):5'- GTTGAGCAGGTATCCACTCAGAAAC -3'
(R):5'- TCAGAAAGCCTGGGTTCAGC -3'

Posted On

2018-07-24