Incidental Mutation 'R0103:Slc7a1'
ID 34465
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 038389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0103 (G1)
Quality Score 163
Status Validated (trace)
Chromosome 5
Chromosomal Location 148264220-148336714 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 148289236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 4 (K4*)
Ref Sequence ENSEMBL: ENSMUSP00000122914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048116] [ENSMUST00000138257] [ENSMUST00000138596] [ENSMUST00000202457]
AlphaFold Q09143
Predicted Effect probably null
Transcript: ENSMUST00000048116
AA Change: K4*
SMART Domains Protein: ENSMUSP00000046714
Gene: ENSMUSG00000041313
AA Change: K4*

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 null
Transcript: ENSMUST00000138257
AA Change: K4*
SMART Domains Protein: ENSMUSP00000117781
Gene: ENSMUSG00000041313
AA Change: K4*

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 probably null
Transcript: ENSMUST00000138596
AA Change: K4*
SMART Domains Protein: ENSMUSP00000122914
Gene: ENSMUSG00000041313
AA Change: K4*

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
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
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Ctns A C 11: 73,076,137 (GRCm39) I299M probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Cyp2b13 A T 7: 25,788,135 (GRCm39) K421M probably damaging Het
Cyp4f40 G T 17: 32,895,282 (GRCm39) C468F probably damaging Het
Cyp4f40 C A 17: 32,895,283 (GRCm39) C468* probably null Het
Dcun1d5 G A 9: 7,188,788 (GRCm39) C74Y probably damaging Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dgkz T C 2: 91,764,550 (GRCm39) T1028A probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Galnt2l A G 8: 122,996,472 (GRCm39) probably benign Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hdac4 T C 1: 91,903,366 (GRCm39) E521G possibly damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Iba57 C T 11: 59,054,439 (GRCm39) A27T probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Keg1 A T 19: 12,696,280 (GRCm39) I155F possibly damaging Het
Krt84 T C 15: 101,438,671 (GRCm39) E272G probably damaging Het
Lrp2 C A 2: 69,307,384 (GRCm39) V2892L probably benign Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Masp1 G A 16: 23,276,768 (GRCm39) P579L probably damaging Het
Mtor T A 4: 148,618,359 (GRCm39) M1724K probably benign Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh15 A T 10: 74,046,257 (GRCm39) D178V probably damaging Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Plxnb2 A G 15: 89,045,972 (GRCm39) Y968H possibly damaging Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptch2 C A 4: 116,966,622 (GRCm39) probably benign Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Rptor G T 11: 119,775,793 (GRCm39) R988L probably benign Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Ss18 A C 18: 14,812,478 (GRCm39) Y38D probably damaging Het
Syt4 T A 18: 31,580,273 (GRCm39) probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Taar7b A T 10: 23,876,192 (GRCm39) Y119F probably benign Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfaip2 C T 12: 111,412,244 (GRCm39) T215M probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Tsc22d4 A C 5: 137,745,378 (GRCm39) M1L possibly damaging Het
Ttc39a A G 4: 109,278,650 (GRCm39) probably null Het
Ttn T G 2: 76,591,570 (GRCm39) H21033P probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Wdr33 T C 18: 31,966,388 (GRCm39) V135A probably damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null Het
Zfp219 T A 14: 52,244,163 (GRCm39) H627L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGAGGACCAGGACTTACCGATGATG -3'
(R):5'- AGACTGGAGAGCCACAGAATCTGAC -3'

Sequencing Primer
(F):5'- ATCAGGTTCCAGCCAGTGATG -3'
(R):5'- TGACAGCTGCTGCTGAAT -3'
Posted On 2013-05-09