Incidental Mutation 'R7984:Slc7a1'
ID 651362
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 046025-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7984 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 148264220-148336714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148278920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000046714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257] [ENSMUST00000202457]
AlphaFold Q09143
Predicted Effect possibly damaging
Transcript: ENSMUST00000048116
AA Change: V284A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: V284A

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: V284A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: V284A

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 possibly damaging
Transcript: ENSMUST00000202457
AA Change: V133A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144000
Gene: ENSMUSG00000041313
AA Change: V133A

DomainStartEndE-ValueType
Pfam:AA_permease 6 142 7.5e-14 PFAM
Pfam:AA_permease_2 11 142 2.7e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 G T 13: 4,645,679 (GRCm39) H226N probably damaging Het
Aldh1a7 T C 19: 20,686,764 (GRCm39) D283G probably damaging Het
Angel1 T C 12: 86,767,068 (GRCm39) D436G probably benign Het
Ank1 G A 8: 23,578,982 (GRCm39) R314Q probably damaging Het
Apbb2 T C 5: 66,465,035 (GRCm39) E629G probably damaging Het
Card9 T G 2: 26,246,784 (GRCm39) I355L probably benign Het
Cdon C T 9: 35,414,598 (GRCm39) P1158S probably benign Het
Cpne7 T G 8: 123,846,461 (GRCm39) V91G possibly damaging Het
Dlc1 T A 8: 37,405,472 (GRCm39) T106S possibly damaging Het
Dnah1 A T 14: 30,989,772 (GRCm39) F3248Y probably damaging Het
Dnah7a A T 1: 53,543,377 (GRCm39) D2264E probably benign Het
Dock7 A T 4: 98,877,303 (GRCm39) N1078K unknown Het
Emc1 T A 4: 139,102,760 (GRCm39) L973H probably damaging Het
Fer1l5 T A 1: 36,447,702 (GRCm39) L955Q possibly damaging Het
Fpr-rs7 T C 17: 20,333,671 (GRCm39) N273S probably benign Het
Gle1 T A 2: 29,828,588 (GRCm39) Y137N probably damaging Het
Grik4 G A 9: 42,582,557 (GRCm39) Q130* probably null Het
Hcn1 C T 13: 118,112,609 (GRCm39) Q858* probably null Het
Heg1 A C 16: 33,583,945 (GRCm39) S76R possibly damaging Het
Ikbke T A 1: 131,203,523 (GRCm39) E50V probably null Het
Itga5 G A 15: 103,264,379 (GRCm39) P297S probably damaging Het
Kcng1 C A 2: 168,104,406 (GRCm39) R480L possibly damaging Het
Kdm3b G T 18: 34,956,752 (GRCm39) E1236* probably null Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lrp5 A G 19: 3,662,342 (GRCm39) F894L probably damaging Het
Lrrk1 T C 7: 65,950,477 (GRCm39) probably null Het
Man2a2 T G 7: 80,003,056 (GRCm39) T1018P probably damaging Het
Mctp2 T C 7: 71,752,937 (GRCm39) Q772R possibly damaging Het
Meioc T A 11: 102,565,432 (GRCm39) N293K possibly damaging Het
Mrps24 A T 11: 5,657,495 (GRCm39) C34S possibly damaging Het
Nek1 G T 8: 61,574,087 (GRCm39) E1112* probably null Het
Nt5dc2 A G 14: 30,860,775 (GRCm39) S317G probably damaging Het
Obscn G T 11: 58,997,151 (GRCm39) Q1492K possibly damaging Het
Or2a57 T G 6: 43,212,730 (GRCm39) S63A probably damaging Het
Or52e4 T C 7: 104,705,639 (GRCm39) F62S probably damaging Het
Or6c69 A G 10: 129,747,941 (GRCm39) F69L probably benign Het
Or8b36 A G 9: 37,937,155 (GRCm39) T18A probably damaging Het
Or9m1b T A 2: 87,836,969 (GRCm39) N42I probably damaging Het
Or9s23 A G 1: 92,501,144 (GRCm39) I84V probably benign Het
P2ry12 T A 3: 59,125,022 (GRCm39) I218F probably damaging Het
Paip1 C T 13: 119,566,698 (GRCm39) Q11* probably null Het
Pcdhga3 C A 18: 37,809,549 (GRCm39) D667E probably benign Het
Pcnx2 T G 8: 126,485,865 (GRCm39) E1911A probably benign Het
Pibf1 T C 14: 99,459,063 (GRCm39) L678P probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prl2c1 G A 13: 28,039,310 (GRCm39) probably null Het
Rnf112 A G 11: 61,340,306 (GRCm39) V656A possibly damaging Het
Siglecf A C 7: 43,004,655 (GRCm39) probably null Het
Slc24a1 A T 9: 64,856,811 (GRCm39) L32* probably null Het
Slco5a1 T A 1: 12,951,608 (GRCm39) H565L probably damaging Het
Slit2 A G 5: 48,333,465 (GRCm39) probably benign Het
Sulf1 A G 1: 12,929,497 (GRCm39) T255A probably benign Het
Tmem130 C T 5: 144,692,237 (GRCm39) G56R possibly damaging Het
Trmt1l A C 1: 151,311,489 (GRCm39) Q116H probably benign Het
Ttn A T 2: 76,554,094 (GRCm39) W30870R probably damaging Het
Unc13b A T 4: 43,173,973 (GRCm39) L1600F unknown Het
Vmn1r233 C T 17: 21,214,417 (GRCm39) V178M probably damaging Het
Vmn2r18 G A 5: 151,485,526 (GRCm39) P656L probably damaging Het
Vmn2r33 A T 7: 7,566,862 (GRCm39) D83E probably benign Het
Vps13b G A 15: 35,880,059 (GRCm39) V3045I probably benign Het
Wdr25 A T 12: 108,976,983 (GRCm39) probably null Het
Xpo6 A G 7: 125,719,616 (GRCm39) V591A probably benign 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
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
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'- AGCACTCGGAAGCTGATCTC -3'
(R):5'- TTACTGAGGACCCTGCTCTGTC -3'

Sequencing Primer
(F):5'- ATCTCACCTGGTGGAAAGTGC -3'
(R):5'- TGCTCTGTCACGGGAGG -3'
Posted On 2020-09-15