Incidental Mutation 'R6847:Slc7a1'
ID 534806
Institutional Source Beutler Lab
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
MMRRC Submission 045021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6847 (G1)
Quality Score 87.0076
Status Validated
Chromosome 5
Chromosomal Location 148264220-148336714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148271468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 497 (A497V)
Ref Sequence ENSEMBL: ENSMUSP00000117781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257]
AlphaFold Q09143
Predicted Effect probably benign
Transcript: ENSMUST00000048116
AA Change: A497V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: A497V

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 probably benign
Transcript: ENSMUST00000138257
AA Change: A497V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: A497V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cdk1 A T 10: 69,174,358 (GRCm39) D288E probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp2b T A 3: 142,303,940 (GRCm39) C12S probably damaging Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Gpatch1 A T 7: 34,992,983 (GRCm39) probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Krt80 T C 15: 101,256,610 (GRCm39) E195G probably benign Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Speer1a G A 5: 11,394,134 (GRCm39) V78M probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null Het
Other mutations in Slc7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Slc7a1 APN 5 148,274,002 (GRCm39) missense possibly damaging 0.61
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
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
Predicted Primers PCR Primer
(F):5'- GCTCACCTTAAATGAGAGCTTGG -3'
(R):5'- ATGACACAGAAGCAGTCTCC -3'

Sequencing Primer
(F):5'- CACCTTAAATGAGAGCTTGGTCTTGC -3'
(R):5'- AAAGTTTGCATGTCCAATGGGCC -3'
Posted On 2018-09-12