Incidental Mutation 'IGL01987:Slc7a1'
ID 181946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a1
Ensembl Gene ENSMUSG00000041313
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
Synonyms Rev-1, Atrc1, Rec-1, 4831426K01Rik, mCAT-1, Cat1, Atrc-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01987
Quality Score
Status
Chromosome 5
Chromosomal Location 148264220-148336714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148274002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 396 (F396L)
Ref Sequence ENSEMBL: ENSMUSP00000117781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257] [ENSMUST00000202457]
AlphaFold Q09143
Predicted Effect possibly damaging
Transcript: ENSMUST00000048116
AA Change: F396L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: F396L

DomainStartEndE-ValueType
Pfam:AA_permease_2 32 440 1.3e-51 PFAM
Pfam:AA_permease 36 431 1.3e-42 PFAM
transmembrane domain 487 509 N/A INTRINSIC
transmembrane domain 519 541 N/A INTRINSIC
Pfam:AA_permease_C 551 601 1.2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000138257
AA Change: F396L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: F396L

DomainStartEndE-ValueType
Pfam:AA_permease_2 32 439 6e-52 PFAM
Pfam:AA_permease 36 433 2.3e-43 PFAM
transmembrane domain 487 509 N/A INTRINSIC
transmembrane domain 519 541 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201860
Predicted Effect probably benign
Transcript: ENSMUST00000202457
SMART Domains Protein: ENSMUSP00000144000
Gene: ENSMUSG00000041313

DomainStartEndE-ValueType
Pfam:AA_permease 6 142 7.5e-14 PFAM
Pfam:AA_permease_2 11 142 2.7e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants die on the first day of birth and are very anemic. Peripheral blood contains 50% fewer red blood cells, reduced hemoglobin levels, and a defect in erythroid maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging Het
Other mutations in Slc7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8441:Slc7a1 UTSW 5 148,271,355 (GRCm39) missense probably benign 0.17
R0016:Slc7a1 UTSW 5 148,271,393 (GRCm39) missense probably benign 0.04
R0028:Slc7a1 UTSW 5 148,272,321 (GRCm39) missense probably benign 0.00
R0103:Slc7a1 UTSW 5 148,289,236 (GRCm39) nonsense probably null
R0103:Slc7a1 UTSW 5 148,289,236 (GRCm39) nonsense probably null
R0565:Slc7a1 UTSW 5 148,288,879 (GRCm39) missense probably damaging 1.00
R0696:Slc7a1 UTSW 5 148,277,366 (GRCm39) missense probably benign 0.11
R1338:Slc7a1 UTSW 5 148,282,746 (GRCm39) missense probably damaging 1.00
R1539:Slc7a1 UTSW 5 148,272,403 (GRCm39) missense possibly damaging 0.95
R1926:Slc7a1 UTSW 5 148,285,113 (GRCm39) missense probably damaging 1.00
R2895:Slc7a1 UTSW 5 148,277,402 (GRCm39) missense probably benign 0.06
R2910:Slc7a1 UTSW 5 148,289,067 (GRCm39) missense probably benign 0.00
R3721:Slc7a1 UTSW 5 148,272,343 (GRCm39) nonsense probably null
R3722:Slc7a1 UTSW 5 148,272,343 (GRCm39) nonsense probably null
R4028:Slc7a1 UTSW 5 148,282,622 (GRCm39) missense probably benign 0.01
R4114:Slc7a1 UTSW 5 148,278,867 (GRCm39) missense probably damaging 1.00
R4510:Slc7a1 UTSW 5 148,277,372 (GRCm39) missense probably damaging 1.00
R4511:Slc7a1 UTSW 5 148,277,372 (GRCm39) missense probably damaging 1.00
R4600:Slc7a1 UTSW 5 148,278,869 (GRCm39) missense probably damaging 1.00
R4657:Slc7a1 UTSW 5 148,289,209 (GRCm39) missense probably benign
R4723:Slc7a1 UTSW 5 148,272,250 (GRCm39) missense probably damaging 0.99
R5248:Slc7a1 UTSW 5 148,270,798 (GRCm39) missense possibly damaging 0.91
R5697:Slc7a1 UTSW 5 148,270,792 (GRCm39) missense probably benign 0.00
R6027:Slc7a1 UTSW 5 148,270,774 (GRCm39) missense possibly damaging 0.94
R6370:Slc7a1 UTSW 5 148,277,483 (GRCm39) missense probably damaging 1.00
R6847:Slc7a1 UTSW 5 148,271,468 (GRCm39) missense probably benign
R7007:Slc7a1 UTSW 5 148,289,256 (GRCm39)
R7635:Slc7a1 UTSW 5 148,289,046 (GRCm39) missense probably damaging 0.99
R7984:Slc7a1 UTSW 5 148,278,920 (GRCm39) missense possibly damaging 0.90
R8086:Slc7a1 UTSW 5 148,288,899 (GRCm39) missense probably damaging 0.99
R8783:Slc7a1 UTSW 5 148,279,643 (GRCm39) missense probably benign
R8851:Slc7a1 UTSW 5 148,285,093 (GRCm39) missense probably damaging 1.00
R9314:Slc7a1 UTSW 5 148,269,327 (GRCm39) missense probably benign 0.00
R9394:Slc7a1 UTSW 5 148,270,712 (GRCm39) missense probably damaging 1.00
R9436:Slc7a1 UTSW 5 148,270,730 (GRCm39) missense probably damaging 1.00
V1024:Slc7a1 UTSW 5 148,271,355 (GRCm39) missense probably benign 0.17
Z1177:Slc7a1 UTSW 5 148,288,975 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07