Incidental Mutation 'R4653:Slc7a14'
ID 351458
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 041913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 31257007-31364527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31311831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000103880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]
AlphaFold Q8BXR1
Predicted Effect probably damaging
Transcript: ENSMUST00000091259
AA Change: V63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: V63A

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: V63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: V63A

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
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly 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
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'- AGCACTTAGGGCAGTGAATAACC -3'
(R):5'- TCTATCTATCAGCAAACCTTCACTG -3'

Sequencing Primer
(F):5'- GTGAATAACCTTGCTGTGAGACCC -3'
(R):5'- CCCTACTGTTAAAGATGAGTGGC -3'
Posted On 2015-10-08