Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Slc7a14'

252087

Institutional Source

Beutler Lab

Gene Symbol

Slc7a14

Ensembl Gene

ENSMUSG00000069072

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 14

Synonyms

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31257007-31364527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31291650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 209 (N209K)

Ref Sequence

ENSEMBL: ENSMUSP00000088803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]

AlphaFold

Q8BXR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091259
AA Change: N209K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: N209K

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	53	443	2.1e-44	PFAM
Pfam:AA_permease	57	436	7.2e-38	PFAM
transmembrane domain	563	585	N/A	INTRINSIC
transmembrane domain	595	617	N/A	INTRINSIC
Pfam:AA_permease_C	627	677	9.2e-21	PFAM
low complexity region	737	757	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108245
AA Change: N209K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: N209K

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	53	445	2.5e-46	PFAM
Pfam:AA_permease	57	437	6.9e-41	PFAM
transmembrane domain	563	585	N/A	INTRINSIC
transmembrane domain	595	617	N/A	INTRINSIC
Pfam:AA_permease_C	627	668	1.4e-17	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,681 (GRCm39)	D28G	probably benign	Het
Abcg1	T	A	17: 31,311,369 (GRCm39)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,392,717 (GRCm39)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,575,569 (GRCm39)		probably null	Het
BC051665	C	T	13: 60,930,468 (GRCm39)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,381,983 (GRCm39)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,542,220 (GRCm39)	R573*	probably null	Het
Cd55b	A	T	1: 130,337,612 (GRCm39)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,320,907 (GRCm39)	V635E	probably benign	Het
Clec16a	T	C	16: 10,377,551 (GRCm39)		probably benign	Het
Clec4b1	A	G	6: 123,042,904 (GRCm39)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,126 (GRCm39)	D19E	probably benign	Het
Cop1	A	G	1: 159,060,375 (GRCm39)	N53S	probably damaging	Het
Cplane1	G	A	15: 8,248,700 (GRCm39)	E1750K	probably damaging	Het
Csad	A	T	15: 102,097,102 (GRCm39)	M1K	probably null	Het
Cyb5rl	A	G	4: 106,938,142 (GRCm39)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,443,237 (GRCm39)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 133,951,208 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,097,908 (GRCm39)		probably benign	Het
Dmap1	G	T	4: 117,532,495 (GRCm39)	T357K	probably damaging	Het
Dzip1	G	T	14: 119,118,456 (GRCm39)	T759K	probably benign	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml5	T	C	12: 98,810,364 (GRCm39)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,816,511 (GRCm39)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,423,988 (GRCm39)	I534F	probably damaging	Het
Epha4	A	C	1: 77,359,628 (GRCm39)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,106,272 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,536,545 (GRCm39)		probably null	Het
Fam229a	A	G	4: 129,385,279 (GRCm39)	D70G	probably damaging	Het
Fbn2	C	T	18: 58,226,431 (GRCm39)	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,508,163 (GRCm39)		probably benign	Het
Fbxo39	T	A	11: 72,208,111 (GRCm39)	S154R	probably benign	Het
Fer	T	A	17: 64,298,575 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,391,410 (GRCm39)	D428V	probably damaging	Het
Filip1l	A	G	16: 57,391,025 (GRCm39)	I538V	possibly damaging	Het
Fsip2	T	C	2: 82,809,954 (GRCm39)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,628,762 (GRCm39)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm39)	S74P	unknown	Het
Gm4787	T	G	12: 81,425,911 (GRCm39)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,358,683 (GRCm39)	I50T	unknown	Het
Hectd4	T	C	5: 121,402,030 (GRCm39)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,562,618 (GRCm39)	C2313*	probably null	Het
Hrob	T	C	11: 102,146,122 (GRCm39)	Y133H	possibly damaging	Het
Igfn1	A	T	1: 135,897,054 (GRCm39)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm39)	D267G	probably benign	Het
Itln1	A	G	1: 171,356,727 (GRCm39)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm39)	T596M	probably damaging	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kif13a	G	A	13: 46,967,676 (GRCm39)	T346M	probably damaging	Het
Klhl24	G	A	16: 19,938,917 (GRCm39)	A491T	probably benign	Het
Kntc1	C	T	5: 123,916,410 (GRCm39)	Q748*	probably null	Het
Krt25	T	A	11: 99,208,122 (GRCm39)	K369*	probably null	Het
Krt75	C	T	15: 101,476,466 (GRCm39)	R433Q	probably benign	Het
Krt76	A	G	15: 101,793,293 (GRCm39)	F582L	unknown	Het
Lysmd1	G	A	3: 95,045,708 (GRCm39)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,454,862 (GRCm39)	E46V	probably damaging	Het
Magi2	A	T	5: 20,563,934 (GRCm39)	K355N	probably damaging	Het
Marchf10	T	C	11: 105,276,398 (GRCm39)	D630G	probably damaging	Het
Mast4	A	T	13: 102,875,147 (GRCm39)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,360,562 (GRCm39)	T523I	probably benign	Het
Nexmif	T	A	X: 103,127,999 (GRCm39)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,295,090 (GRCm39)	I918R	possibly damaging	Het
Nt5el	A	G	13: 105,246,250 (GRCm39)	I270M	probably benign	Het
Nup50	A	T	15: 84,817,859 (GRCm39)	T93S	probably benign	Het
Nwd2	T	C	5: 63,961,717 (GRCm39)	Y434H	probably benign	Het
Or13a28	T	C	7: 140,218,397 (GRCm39)	V261A	probably benign	Het
Osbpl1a	C	A	18: 13,038,088 (GRCm39)	V288L	probably benign	Het
Pan3	A	G	5: 147,463,846 (GRCm39)	E562G	possibly damaging	Het
Pappa	T	A	4: 65,099,126 (GRCm39)	Y548*	probably null	Het
Phf3	A	T	1: 30,849,870 (GRCm39)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,348,824 (GRCm39)	I240T	probably damaging	Het
Pole	G	A	5: 110,438,368 (GRCm39)		probably null	Het
Polq	T	A	16: 36,832,304 (GRCm39)	S15T	unknown	Het
Prrt2	T	C	7: 126,619,396 (GRCm39)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,494,760 (GRCm39)		probably null	Het
Prune2	T	C	19: 16,977,400 (GRCm39)	L45P	probably damaging	Het
Psd	A	T	19: 46,313,352 (GRCm39)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,017,719 (GRCm39)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Pxdn	T	A	12: 30,053,405 (GRCm39)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rgmb	C	A	17: 16,027,909 (GRCm39)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 92,007,344 (GRCm39)		probably null	Het
Rps2	G	A	17: 24,939,353 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,107,364 (GRCm39)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,335,138 (GRCm39)	R112H	probably benign	Het
Scfd2	T	C	5: 74,691,838 (GRCm39)	N148S	probably damaging	Het
Scin	C	T	12: 40,131,705 (GRCm39)	M276I	probably benign	Het
Sec24d	T	C	3: 123,147,255 (GRCm39)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,086,009 (GRCm39)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,694,303 (GRCm39)	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,823,925 (GRCm39)	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,332,195 (GRCm39)		probably null	Het
Sstr2	T	C	11: 113,515,257 (GRCm39)	C59R	probably damaging	Het
Stab1	A	G	14: 30,884,997 (GRCm39)		probably null	Het
Stag1	G	T	9: 100,748,263 (GRCm39)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 36,936,029 (GRCm39)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm39)		probably null	Het
Tm9sf2	A	G	14: 122,396,096 (GRCm39)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm39)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,779,803 (GRCm39)	W300L	probably damaging	Het
Traj32	A	G	14: 54,423,560 (GRCm39)		probably benign	Het
Trp53bp2	A	T	1: 182,269,204 (GRCm39)	M223L	probably benign	Het
Tsga10	G	A	1: 37,854,758 (GRCm39)	T246M	probably damaging	Het
Txn2	A	T	15: 77,810,870 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,768,542 (GRCm39)	F450I	probably damaging	Het
Usp47	T	C	7: 111,703,677 (GRCm39)		probably null	Het
Vars2	C	T	17: 35,975,685 (GRCm39)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,546,803 (GRCm39)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,087,863 (GRCm39)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,877,883 (GRCm39)	C29R	probably damaging	Het

Other mutations in Slc7a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc7a14	APN	3	31,292,827 (GRCm39)	missense	probably damaging	1.00
IGL02713:Slc7a14	APN	3	31,311,912 (GRCm39)	missense	probably damaging	0.96
IGL03341:Slc7a14	APN	3	31,292,919 (GRCm39)	missense	probably damaging	1.00
IGL03350:Slc7a14	APN	3	31,291,558 (GRCm39)	missense	probably benign	0.35
IGL03379:Slc7a14	APN	3	31,277,664 (GRCm39)	missense	probably damaging	1.00
R0064:Slc7a14	UTSW	3	31,281,209 (GRCm39)	missense	probably damaging	1.00
R1549:Slc7a14	UTSW	3	31,278,267 (GRCm39)	missense	possibly damaging	0.94
R1591:Slc7a14	UTSW	3	31,291,598 (GRCm39)	missense	probably damaging	1.00
R2054:Slc7a14	UTSW	3	31,291,511 (GRCm39)	splice site	probably benign
R2057:Slc7a14	UTSW	3	31,291,645 (GRCm39)	missense	probably damaging	1.00
R2442:Slc7a14	UTSW	3	31,284,469 (GRCm39)	missense	probably damaging	1.00
R3848:Slc7a14	UTSW	3	31,291,623 (GRCm39)	missense	probably damaging	1.00
R4653:Slc7a14	UTSW	3	31,311,831 (GRCm39)	missense	probably damaging	1.00
R4702:Slc7a14	UTSW	3	31,284,547 (GRCm39)	missense	probably damaging	1.00
R5043:Slc7a14	UTSW	3	31,291,615 (GRCm39)	missense	probably damaging	1.00
R5187:Slc7a14	UTSW	3	31,291,514 (GRCm39)	splice site	probably null
R5345:Slc7a14	UTSW	3	31,278,006 (GRCm39)	missense	probably damaging	0.99
R5393:Slc7a14	UTSW	3	31,311,919 (GRCm39)	missense	probably damaging	1.00
R5421:Slc7a14	UTSW	3	31,278,346 (GRCm39)	missense	probably damaging	1.00
R5736:Slc7a14	UTSW	3	31,278,059 (GRCm39)	missense	probably benign	0.00
R5771:Slc7a14	UTSW	3	31,292,856 (GRCm39)	missense	probably damaging	1.00
R5896:Slc7a14	UTSW	3	31,311,719 (GRCm39)	missense	probably damaging	1.00
R5996:Slc7a14	UTSW	3	31,263,385 (GRCm39)	missense	probably benign
R6020:Slc7a14	UTSW	3	31,278,261 (GRCm39)	missense	probably benign
R6107:Slc7a14	UTSW	3	31,311,759 (GRCm39)	missense	probably damaging	1.00
R6140:Slc7a14	UTSW	3	31,291,697 (GRCm39)	missense	probably benign
R6491:Slc7a14	UTSW	3	31,278,093 (GRCm39)	missense	probably damaging	1.00
R6846:Slc7a14	UTSW	3	31,278,372 (GRCm39)	missense	probably damaging	1.00
R6990:Slc7a14	UTSW	3	31,277,728 (GRCm39)	missense	possibly damaging	0.90
R7184:Slc7a14	UTSW	3	31,281,212 (GRCm39)	missense	probably damaging	0.98
R7271:Slc7a14	UTSW	3	31,278,384 (GRCm39)	missense	probably damaging	1.00
R7282:Slc7a14	UTSW	3	31,281,302 (GRCm39)	missense	possibly damaging	0.67
R7331:Slc7a14	UTSW	3	31,311,880 (GRCm39)	missense	probably benign	0.00
R8227:Slc7a14	UTSW	3	31,263,361 (GRCm39)	missense	probably benign	0.00
R8238:Slc7a14	UTSW	3	31,281,300 (GRCm39)	missense	probably benign	0.01
R8524:Slc7a14	UTSW	3	31,278,282 (GRCm39)	missense	possibly damaging	0.70
R8843:Slc7a14	UTSW	3	31,311,759 (GRCm39)	missense	probably damaging	1.00
R8903:Slc7a14	UTSW	3	31,277,595 (GRCm39)	missense	probably damaging	0.98
R9011:Slc7a14	UTSW	3	31,278,345 (GRCm39)	missense	probably damaging	1.00
R9208:Slc7a14	UTSW	3	31,281,359 (GRCm39)	missense	probably damaging	1.00
R9633:Slc7a14	UTSW	3	31,278,166 (GRCm39)	missense	probably benign	0.31
Z1088:Slc7a14	UTSW	3	31,278,148 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ACACGTCTTCAGAACATGCC -3'
(R):5'- TAAGGGTCATAACAGCCCAGG -3'

Sequencing Primer
(F):5'- GTGTCTTAAACTATTCCCGGCATGG -3'
(R):5'- TCATAACAGCCCAGGTGCGAAG -3'

Posted On

2014-12-04