Incidental Mutation 'IGL01987:Slc7a1'
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ID181946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a1
Ensembl Gene ENSMUSG00000041313
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SynonymsRev-1, Rec-1, Atrc1, Cat1, mCAT-1, 4831426K01Rik, Atrc-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01987
Quality Score
Status
Chromosome5
Chromosomal Location148327410-148399904 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 148337192 bp
ZygosityHeterozygous
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]
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
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Slc7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8441:Slc7a1 UTSW 5 148334545 missense probably benign 0.17
R0016:Slc7a1 UTSW 5 148334583 missense probably benign 0.04
R0028:Slc7a1 UTSW 5 148335511 missense probably benign 0.00
R0103:Slc7a1 UTSW 5 148352426 nonsense probably null
R0103:Slc7a1 UTSW 5 148352426 nonsense probably null
R0565:Slc7a1 UTSW 5 148352069 missense probably damaging 1.00
R0696:Slc7a1 UTSW 5 148340556 missense probably benign 0.11
R1338:Slc7a1 UTSW 5 148345936 missense probably damaging 1.00
R1539:Slc7a1 UTSW 5 148335593 missense possibly damaging 0.95
R1926:Slc7a1 UTSW 5 148348303 missense probably damaging 1.00
R2895:Slc7a1 UTSW 5 148340592 missense probably benign 0.06
R2910:Slc7a1 UTSW 5 148352257 missense probably benign 0.00
R3721:Slc7a1 UTSW 5 148335533 nonsense probably null
R3722:Slc7a1 UTSW 5 148335533 nonsense probably null
R4028:Slc7a1 UTSW 5 148345812 missense probably benign 0.01
R4114:Slc7a1 UTSW 5 148342057 missense probably damaging 1.00
R4510:Slc7a1 UTSW 5 148340562 missense probably damaging 1.00
R4511:Slc7a1 UTSW 5 148340562 missense probably damaging 1.00
R4600:Slc7a1 UTSW 5 148342059 missense probably damaging 1.00
R4657:Slc7a1 UTSW 5 148352399 missense probably benign
R4723:Slc7a1 UTSW 5 148335440 missense probably damaging 0.99
R5248:Slc7a1 UTSW 5 148333988 missense possibly damaging 0.91
R5697:Slc7a1 UTSW 5 148333982 missense probably benign 0.00
R6027:Slc7a1 UTSW 5 148333964 missense possibly damaging 0.94
R6370:Slc7a1 UTSW 5 148340673 missense probably damaging 1.00
R6847:Slc7a1 UTSW 5 148334658 missense probably benign
R7007:Slc7a1 UTSW 5 148352446
R7635:Slc7a1 UTSW 5 148352236 missense probably damaging 0.99
R7984:Slc7a1 UTSW 5 148342110 missense possibly damaging 0.90
R8086:Slc7a1 UTSW 5 148352089 missense probably damaging 0.99
V1024:Slc7a1 UTSW 5 148334545 missense probably benign 0.17
Z1177:Slc7a1 UTSW 5 148352165 missense probably damaging 1.00
Posted On2014-05-07