Incidental Mutation 'R7271:Slc7a14'
ID 565279
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 045356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R7271 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31257007-31364527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31278384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 407 (L407P)
Ref Sequence ENSEMBL: ENSMUSP00000088803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]
AlphaFold Q8BXR1
Predicted Effect probably damaging
Transcript: ENSMUST00000091259
AA Change: L407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: L407P

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: L407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: L407P

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l C T 10: 42,291,544 (GRCm39) probably null Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alpk3 A G 7: 80,728,202 (GRCm39) E444G possibly damaging Het
Amer2 T A 14: 60,617,123 (GRCm39) D439E possibly damaging Het
Ano6 A G 15: 95,811,781 (GRCm39) Y222C probably damaging Het
Atp4a A C 7: 30,421,944 (GRCm39) K827Q probably benign Het
Atp9a G A 2: 168,576,047 (GRCm39) Het
Casp7 T A 19: 56,424,793 (GRCm39) C171S probably damaging Het
Ccdc9b T A 2: 118,591,164 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdkl1 A G 12: 69,795,585 (GRCm39) L315S probably benign Het
Cfap91 A G 16: 38,148,708 (GRCm39) I240T probably damaging Het
Crybg1 G T 10: 43,873,619 (GRCm39) S1163* probably null Het
Csmd1 A T 8: 17,077,295 (GRCm39) W121R probably damaging Het
Cyyr1 A T 16: 85,262,493 (GRCm39) M88K possibly damaging Het
Dlc1 T C 8: 37,049,954 (GRCm39) Q587R probably damaging Het
Dock2 T C 11: 34,223,750 (GRCm39) E1128G possibly damaging Het
Dynap T A 18: 70,374,320 (GRCm39) T69S possibly damaging Het
Esr1 T C 10: 4,733,874 (GRCm39) C225R probably damaging Het
Fbxo31 C T 8: 122,305,503 (GRCm39) probably benign Het
Fndc11 G A 2: 180,863,893 (GRCm39) V233I possibly damaging Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gtf2ird1 A G 5: 134,433,758 (GRCm39) L223P probably benign Het
Ifi214 A T 1: 173,357,042 (GRCm39) H20Q probably damaging Het
Impa2 T A 18: 67,439,806 (GRCm39) I101N probably damaging Het
Kidins220 A T 12: 25,061,570 (GRCm39) T854S probably benign Het
Lamb1 T A 12: 31,337,423 (GRCm39) C385S probably damaging Het
Lrrc8c A G 5: 105,755,853 (GRCm39) S543G probably benign Het
Manba A T 3: 135,248,137 (GRCm39) Y342F probably damaging Het
Map3k1 T C 13: 111,893,231 (GRCm39) D758G probably benign Het
Mtor G T 4: 148,630,942 (GRCm39) A2300S possibly damaging Het
Musk T A 4: 58,373,409 (GRCm39) M793K probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Or10ab4 G A 7: 107,654,423 (GRCm39) R78Q probably damaging Het
Or10ag55-ps1 T A 2: 87,114,725 (GRCm39) N30K probably benign Het
Or4k77 A G 2: 111,199,693 (GRCm39) T239A probably damaging Het
Or8g21 A T 9: 38,905,953 (GRCm39) Y259* probably null Het
Pcdh12 C A 18: 38,416,100 (GRCm39) V342F probably damaging Het
Pcdhb4 T A 18: 37,441,222 (GRCm39) H177Q possibly damaging Het
Pcnx2 G A 8: 126,613,690 (GRCm39) A587V probably benign Het
Phkb C T 8: 86,770,418 (GRCm39) P896S probably damaging Het
Prss36 A G 7: 127,543,877 (GRCm39) S165P probably benign Het
Prss43 A G 9: 110,657,671 (GRCm39) D190G probably damaging Het
Psmd14 T C 2: 61,591,356 (GRCm39) V53A probably damaging Het
Sel1l3 T G 5: 53,273,704 (GRCm39) H1054P probably damaging Het
Selenoh T C 2: 84,500,631 (GRCm39) R70G probably damaging Het
Serpinb9d A G 13: 33,378,617 (GRCm39) Q21R probably benign Het
Slc29a1 T C 17: 45,899,288 (GRCm39) E262G probably benign Het
Smyd4 T C 11: 75,281,325 (GRCm39) V266A possibly damaging Het
Spata31d1a T A 13: 59,849,913 (GRCm39) R738S probably benign Het
Speer4a2 G A 5: 26,292,993 (GRCm39) T67I probably benign Het
Srcin1 C T 11: 97,442,715 (GRCm39) G38S probably damaging Het
Stab2 A T 10: 86,838,972 (GRCm39) probably null Het
Syde2 A G 3: 145,726,031 (GRCm39) N1308D possibly damaging Het
Trip11 A T 12: 101,850,611 (GRCm39) M1151K probably damaging Het
Ttll4 A T 1: 74,727,820 (GRCm39) I861F possibly damaging Het
Zfp319 G A 8: 96,058,471 (GRCm39) probably benign Het
Zfp518b T C 5: 38,831,907 (GRCm39) N33D probably benign Het
Zfp874a T A 13: 67,591,415 (GRCm39) I90F probably benign Het
Zmiz2 G T 11: 6,349,593 (GRCm39) V412L probably damaging Het
Other mutations in Slc7a14
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2504:Slc7a14 UTSW 3 31,291,650 (GRCm39) missense possibly damaging 0.85
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
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'- TCACTCACAGGAGAACAAGTTTC -3'
(R):5'- GAGTTAACCACAGCTCCCTG -3'

Sequencing Primer
(F):5'- GGAGAACAAGTTTCCTTCTCACAGTC -3'
(R):5'- GTTGCAGTTCTAACACACTGG -3'
Posted On 2019-06-26