Incidental Mutation 'IGL03379:Slc7a14'
ID420605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a14
Ensembl Gene ENSMUSG00000069072
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL03379
Quality Score
Status
Chromosome3
Chromosomal Location31202858-31310378 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31223515 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 647 (M647K)
Ref Sequence ENSEMBL: ENSMUSP00000103880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]
Predicted Effect probably damaging
Transcript: ENSMUST00000091259
AA Change: M647K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: M647K

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000108245
AA Change: M647K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: M647K

DomainStartEndE-ValueType
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,973,772 T260A probably damaging Het
Arhgap21 A G 2: 20,880,689 V559A probably benign Het
Arrdc5 G A 17: 56,294,589 Q179* probably null Het
Atrnl1 T C 19: 57,642,541 Y247H probably benign Het
Bend5 T A 4: 111,454,271 S361T probably benign Het
Cdc20b A G 13: 113,081,202 D385G probably damaging Het
Cep120 C T 18: 53,709,136 S709N probably benign Het
Eif2b4 A G 5: 31,190,011 probably benign Het
Eif2s1 T A 12: 78,866,580 D18E probably benign Het
Etl4 G A 2: 20,662,016 S209N possibly damaging Het
Farp2 T A 1: 93,607,438 F636L probably benign Het
Fcgbp A T 7: 28,089,917 D636V possibly damaging Het
Gm5082 T C 13: 41,656,426 noncoding transcript Het
Gtf2ird1 C T 5: 134,382,538 G672D possibly damaging Het
Heatr3 A G 8: 88,150,110 K143R probably benign Het
Hrc A G 7: 45,337,255 E610G probably benign Het
Ica1l G A 1: 59,997,621 S337F probably benign Het
Ighv1-43 T C 12: 114,946,005 Y99C probably benign Het
Kcna3 T A 3: 107,037,205 F261L probably benign Het
Kdm4d T C 9: 14,463,843 R240G probably damaging Het
Kidins220 T A 12: 25,008,448 I620N probably damaging Het
Kif5c A G 2: 49,701,092 M55V probably damaging Het
Oas1a A T 5: 120,896,999 L366Q possibly damaging Het
Olfr493 T C 7: 108,346,989 probably benign Het
Pds5b T C 5: 150,788,331 V918A probably damaging Het
Plcz1 G A 6: 139,990,764 L580F possibly damaging Het
Prlr C A 15: 10,319,317 P147T possibly damaging Het
Ptpn18 A T 1: 34,470,257 probably null Het
Ptprt A T 2: 161,555,459 C1109* probably null Het
Ralgapa2 A T 2: 146,357,987 S1212R probably benign Het
Scn2b T A 9: 45,126,200 C182S probably damaging Het
Sult2a6 G A 7: 14,222,586 T250I probably benign Het
Syn3 A T 10: 86,064,872 M384K possibly damaging Het
Tmem8b A G 4: 43,685,561 T596A probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vat1l A T 8: 114,282,266 I247F probably damaging Het
Vmn2r110 T C 17: 20,583,644 D223G probably damaging Het
Wdr11 T A 7: 129,599,123 D99E probably damaging Het
Zan C T 5: 137,464,215 V901I unknown Het
Other mutations in Slc7a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02631:Slc7a14 APN 3 31238678 missense probably damaging 1.00
IGL02713:Slc7a14 APN 3 31257763 missense probably damaging 0.96
IGL03341:Slc7a14 APN 3 31238770 missense probably damaging 1.00
IGL03350:Slc7a14 APN 3 31237409 missense probably benign 0.35
R0064:Slc7a14 UTSW 3 31227060 missense probably damaging 1.00
R1549:Slc7a14 UTSW 3 31224118 missense possibly damaging 0.94
R1591:Slc7a14 UTSW 3 31237449 missense probably damaging 1.00
R2054:Slc7a14 UTSW 3 31237362 splice site probably benign
R2057:Slc7a14 UTSW 3 31237496 missense probably damaging 1.00
R2442:Slc7a14 UTSW 3 31230320 missense probably damaging 1.00
R2504:Slc7a14 UTSW 3 31237501 missense possibly damaging 0.85
R3848:Slc7a14 UTSW 3 31237474 missense probably damaging 1.00
R4653:Slc7a14 UTSW 3 31257682 missense probably damaging 1.00
R4702:Slc7a14 UTSW 3 31230398 missense probably damaging 1.00
R5043:Slc7a14 UTSW 3 31237466 missense probably damaging 1.00
R5187:Slc7a14 UTSW 3 31237365 splice site probably null
R5345:Slc7a14 UTSW 3 31223857 missense probably damaging 0.99
R5393:Slc7a14 UTSW 3 31257770 missense probably damaging 1.00
R5421:Slc7a14 UTSW 3 31224197 missense probably damaging 1.00
R5736:Slc7a14 UTSW 3 31223910 missense probably benign 0.00
R5771:Slc7a14 UTSW 3 31238707 missense probably damaging 1.00
R5896:Slc7a14 UTSW 3 31257570 missense probably damaging 1.00
R5996:Slc7a14 UTSW 3 31209236 missense probably benign
R6020:Slc7a14 UTSW 3 31224112 missense probably benign
R6107:Slc7a14 UTSW 3 31257610 missense probably damaging 1.00
R6140:Slc7a14 UTSW 3 31237548 missense probably benign
R6491:Slc7a14 UTSW 3 31223944 missense probably damaging 1.00
R6846:Slc7a14 UTSW 3 31224223 missense probably damaging 1.00
R6990:Slc7a14 UTSW 3 31223579 missense possibly damaging 0.90
R7184:Slc7a14 UTSW 3 31227063 missense probably damaging 0.98
R7271:Slc7a14 UTSW 3 31224235 missense probably damaging 1.00
R7282:Slc7a14 UTSW 3 31227153 missense possibly damaging 0.67
R7331:Slc7a14 UTSW 3 31257731 missense probably benign 0.00
Z1088:Slc7a14 UTSW 3 31223999 missense probably benign 0.10
Posted On2016-08-02