Incidental Mutation 'R7331:Slc7a14'
ID 569227
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 045424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R7331 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31257007-31364527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31311880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
Ref Sequence ENSEMBL: ENSMUSP00000088803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]
AlphaFold Q8BXR1
Predicted Effect probably benign
Transcript: ENSMUST00000091259
AA Change: T47A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088803
Gene: ENSMUSG00000069072
AA Change: T47A

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 benign
Transcript: ENSMUST00000108245
AA Change: T47A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103880
Gene: ENSMUSG00000069072
AA Change: T47A

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (48/48)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,728 (GRCm39) H47L possibly damaging Het
Adgrf5 T C 17: 43,748,484 (GRCm39) S438P probably damaging Het
Atg16l2 C A 7: 100,948,255 (GRCm39) K96N probably damaging Het
Bglap2 A T 3: 88,285,567 (GRCm39) M35K possibly damaging Het
Btbd1 T A 7: 81,465,720 (GRCm39) I209L probably damaging Het
Cdc34 T C 10: 79,521,146 (GRCm39) Y148H probably damaging Het
Clcc1 A G 3: 108,575,394 (GRCm39) D157G probably damaging Het
Csmd2 A T 4: 128,458,021 (GRCm39) probably null Het
Ctsj G A 13: 61,151,645 (GRCm39) S90L probably benign Het
Cycs A G 6: 50,542,532 (GRCm39) F37L probably benign Het
Dync2li1 T A 17: 84,955,086 (GRCm39) C248* probably null Het
Dzank1 A T 2: 144,332,190 (GRCm39) I382N probably benign Het
Eif4a3l2 G A 6: 116,529,130 (GRCm39) V336I probably benign Het
Enpp2 T C 15: 54,739,066 (GRCm39) I406V probably damaging Het
Ero1b A G 13: 12,615,015 (GRCm39) E282G probably damaging Het
Fastkd5 A T 2: 130,457,647 (GRCm39) N314K possibly damaging Het
Fbh1 A T 2: 11,768,797 (GRCm39) C300S probably benign Het
Fchsd1 T C 18: 38,101,823 (GRCm39) I49V possibly damaging Het
Foxn1 A G 11: 78,249,615 (GRCm39) Y637H probably damaging Het
Gabarap A G 11: 69,885,298 (GRCm39) E101G possibly damaging Het
Gm7247 A G 14: 51,601,792 (GRCm39) R22G probably damaging Het
Gm7694 A T 1: 170,129,180 (GRCm39) D116E possibly damaging Het
Gm9508 A G 10: 77,532,629 (GRCm39) C147R unknown Het
Gpr152 A G 19: 4,192,608 (GRCm39) M50V probably damaging Het
Hunk T A 16: 90,269,450 (GRCm39) N331K possibly damaging Het
Il1r2 A G 1: 40,162,409 (GRCm39) T351A probably benign Het
Iqub A G 6: 24,500,393 (GRCm39) V287A possibly damaging Het
Lix1 A T 17: 17,647,474 (GRCm39) T47S probably benign Het
Lrp1b A T 2: 40,553,622 (GRCm39) probably null Het
Nup107 G A 10: 117,606,103 (GRCm39) T500I probably damaging Het
Phf21b G C 15: 84,675,295 (GRCm39) R405G probably benign Het
Piezo2 A G 18: 63,241,101 (GRCm39) V709A probably damaging Het
Psme3ip1 T A 8: 95,309,564 (GRCm39) K143* probably null Het
Rfc1 T C 5: 65,468,387 (GRCm39) T109A probably damaging Het
Rpa1 A G 11: 75,203,941 (GRCm39) V302A probably damaging Het
Ryr2 A G 13: 11,760,517 (GRCm39) I1522T probably benign Het
Ryr3 C A 2: 112,594,010 (GRCm39) R2578L possibly damaging Het
Scgb2b18 C T 7: 32,872,681 (GRCm39) W41* probably null Het
Sdccag8 C G 1: 176,695,856 (GRCm39) Q387E possibly damaging Het
Slc25a17 G A 15: 81,213,346 (GRCm39) T119M probably damaging Het
Slc45a4 G T 15: 73,477,489 (GRCm39) Q16K probably benign Het
Slc4a1 G A 11: 102,252,245 (GRCm39) probably benign Het
Stard6 A G 18: 70,616,553 (GRCm39) R71G probably damaging Het
Tecr A G 8: 84,298,564 (GRCm39) V321A probably damaging Het
Ttc3 T A 16: 94,195,218 (GRCm39) F290L probably benign Het
Uqcc1 A G 2: 155,753,731 (GRCm39) V48A probably benign Het
V1rd19 T A 7: 23,703,308 (GRCm39) I258N probably damaging Het
Zar1 T A 5: 72,737,655 (GRCm39) E249V possibly damaging Het
Zfp101 T C 17: 33,601,559 (GRCm39) T66A possibly damaging Het
Zyx A G 6: 42,328,593 (GRCm39) H230R probably benign 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
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
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'- GGGCAGTGAATAACCTTGCTG -3'
(R):5'- AGGCCTTTCTATCTATCAGCAAAC -3'

Sequencing Primer
(F):5'- GTGAATAACCTTGCTGTGAGACCC -3'
(R):5'- CCTTCACTGCAACCCTACTGTTAAAG -3'
Posted On 2019-09-13