Incidental Mutation 'R9091:Slc38a6'
ID 691014
Institutional Source Beutler Lab
Gene Symbol Slc38a6
Ensembl Gene ENSMUSG00000044712
Gene Name solute carrier family 38, member 6
Synonyms EG625098
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9091 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 73333553-73400823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73398544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 358 (M358T)
Ref Sequence ENSEMBL: ENSMUSP00000120810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140523]
AlphaFold G3UVW3
Predicted Effect probably benign
Transcript: ENSMUST00000140523
AA Change: M358T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
AA Change: M358T

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 T A 3: 30,652,781 (GRCm39) E104D probably damaging Het
Arih2 A T 9: 108,493,890 (GRCm39) D174E probably damaging Het
Asprv1 T C 6: 86,606,077 (GRCm39) F308L probably damaging Het
Baiap2l2 A G 15: 79,168,205 (GRCm39) probably null Het
Btla T C 16: 45,064,656 (GRCm39) F203L possibly damaging Het
C1rb A T 6: 124,551,947 (GRCm39) D283V probably damaging Het
C87436 C G 6: 86,442,813 (GRCm39) Q462E probably benign Het
Ccdc149 T C 5: 52,563,352 (GRCm39) D147G possibly damaging Het
Chd6 A T 2: 160,871,793 (GRCm39) L214* probably null Het
Chrna4 C A 2: 180,670,643 (GRCm39) R371L possibly damaging Het
Cit C A 5: 115,984,161 (GRCm39) probably benign Het
Cpne5 A G 17: 29,444,163 (GRCm39) probably null Het
Cr1l T C 1: 194,789,204 (GRCm39) E400G possibly damaging Het
Creb3l2 T C 6: 37,332,583 (GRCm39) N304D probably damaging Het
Cyp17a1 T C 19: 46,656,030 (GRCm39) T420A probably benign Het
Cyp24a1 A G 2: 170,327,853 (GRCm39) I463T probably damaging Het
Cyp3a41b A T 5: 145,514,973 (GRCm39) I84N probably damaging Het
Dnajc6 G A 4: 101,496,559 (GRCm39) V909M possibly damaging Het
Dtl A G 1: 191,288,923 (GRCm39) Y264H probably damaging Het
Dysf C T 6: 84,077,216 (GRCm39) R660* probably null Het
Egf A G 3: 129,529,449 (GRCm39) probably null Het
Eva1c T C 16: 90,701,231 (GRCm39) S402P probably benign Het
Fcho2 A T 13: 98,925,869 (GRCm39) probably null Het
Fhdc1 G A 3: 84,352,290 (GRCm39) R197C unknown Het
Foxa2 T A 2: 147,886,426 (GRCm39) M136L probably benign Het
Gm10226 T C 17: 21,910,866 (GRCm39) C34R possibly damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm8947 T C 1: 151,068,853 (GRCm39) S229P probably benign Het
Ighv9-2 A T 12: 114,072,896 (GRCm39) S26T probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat6a T G 8: 23,420,190 (GRCm39) I745M probably damaging Het
Klhdc1 T C 12: 69,309,968 (GRCm39) L290P probably damaging Het
Lcp2 C T 11: 34,039,688 (GRCm39) T496I Het
Map4k4 T C 1: 40,042,923 (GRCm39) W593R probably benign Het
Mefv T G 16: 3,535,841 (GRCm39) Q29P probably damaging Het
Mgat5b T C 11: 116,859,269 (GRCm39) Y34H Het
Mlip C T 9: 77,137,080 (GRCm39) R609Q probably benign Het
Muc2 A G 7: 141,290,816 (GRCm39) D34G Het
Nbeal1 C T 1: 60,307,548 (GRCm39) P1687S possibly damaging Het
Notch1 T A 2: 26,369,895 (GRCm39) I477L probably damaging Het
Odad2 T A 18: 7,217,846 (GRCm39) K623* probably null Het
Or1l4b G A 2: 37,037,047 (GRCm39) M274I probably benign Het
Or1s2 T C 19: 13,758,333 (GRCm39) V117A probably benign Het
Or4a2 A T 2: 89,248,712 (GRCm39) L15Q probably damaging Het
Or51v8 T A 7: 103,320,124 (GRCm39) N38I probably damaging Het
Or6c214 A G 10: 129,591,148 (GRCm39) M57T probably damaging Het
Pak5 A T 2: 135,958,688 (GRCm39) S133R probably damaging Het
Pcyt1a C A 16: 32,285,332 (GRCm39) D187E probably benign Het
Pdlim7 G T 13: 55,655,354 (GRCm39) T161K probably damaging Het
Phf8-ps A C 17: 33,286,701 (GRCm39) C34G probably damaging Het
Pik3r4 A G 9: 105,547,108 (GRCm39) K962R probably benign Het
Pkd1l2 T C 8: 117,759,433 (GRCm39) K1516E probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Ptchd3 A T 11: 121,733,180 (GRCm39) Y690F probably benign Het
Ptpn13 A T 5: 103,649,735 (GRCm39) R379S possibly damaging Het
Rbm27 C T 18: 42,438,829 (GRCm39) A410V probably benign Het
Rnase4 A G 14: 51,342,662 (GRCm39) T129A probably benign Het
Serpinb11 C T 1: 107,304,533 (GRCm39) T166I probably benign Het
Shank2 A G 7: 143,963,705 (GRCm39) T438A possibly damaging Het
Slc13a2 T C 11: 78,295,258 (GRCm39) N172D probably damaging Het
Slc2a8 A G 2: 32,864,864 (GRCm39) F428L probably damaging Het
Snx29 A G 16: 11,213,155 (GRCm39) H107R probably benign Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Spint3 G A 2: 164,415,154 (GRCm39) A21V probably benign Het
Susd1 A T 4: 59,412,226 (GRCm39) V162E probably benign Het
Syne2 T G 12: 75,977,834 (GRCm39) N1426K probably damaging Het
Synj2 T C 17: 6,067,875 (GRCm39) V638A possibly damaging Het
Thada A T 17: 84,538,589 (GRCm39) L1473Q probably damaging Het
Trim36 G A 18: 46,300,580 (GRCm39) S697L possibly damaging Het
Ttbk1 A T 17: 46,781,517 (GRCm39) I412N possibly damaging Het
Tubb2a T C 13: 34,258,578 (GRCm39) D404G probably damaging Het
Tyk2 T A 9: 21,035,841 (GRCm39) N114Y probably damaging Het
Umodl1 A G 17: 31,185,678 (GRCm39) D139G probably damaging Het
Vmn2r101 T A 17: 19,810,244 (GRCm39) N343K probably benign Het
Vnn1 A G 10: 23,780,464 (GRCm39) D484G probably damaging Het
Vps13b A G 15: 35,770,919 (GRCm39) T2121A probably benign Het
Wdr81 T C 11: 75,345,216 (GRCm39) E17G probably benign Het
Wnk2 T G 13: 49,224,505 (GRCm39) K1117Q probably benign Het
Zbtb46 C T 2: 181,066,138 (GRCm39) R4Q probably benign Het
Zfp608 T A 18: 55,032,190 (GRCm39) K583N probably damaging Het
Zfp729b A T 13: 67,740,480 (GRCm39) L595H probably damaging Het
Other mutations in Slc38a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc38a6 APN 12 73,398,577 (GRCm39) missense probably benign 0.00
IGL01083:Slc38a6 APN 12 73,335,267 (GRCm39) missense possibly damaging 0.94
IGL01302:Slc38a6 APN 12 73,335,299 (GRCm39) critical splice donor site probably null
IGL02106:Slc38a6 APN 12 73,397,320 (GRCm39) missense possibly damaging 0.84
IGL02429:Slc38a6 APN 12 73,397,342 (GRCm39) missense probably benign 0.18
IGL02815:Slc38a6 APN 12 73,338,979 (GRCm39) missense probably damaging 1.00
IGL03001:Slc38a6 APN 12 73,383,827 (GRCm39) missense probably benign 0.03
IGL03167:Slc38a6 APN 12 73,397,311 (GRCm39) nonsense probably null
R0394:Slc38a6 UTSW 12 73,399,304 (GRCm39) missense probably benign
R0918:Slc38a6 UTSW 12 73,391,559 (GRCm39) splice site probably null
R1377:Slc38a6 UTSW 12 73,397,345 (GRCm39) missense probably damaging 0.98
R1533:Slc38a6 UTSW 12 73,391,626 (GRCm39) missense probably benign 0.11
R4171:Slc38a6 UTSW 12 73,397,326 (GRCm39) missense probably benign 0.21
R4579:Slc38a6 UTSW 12 73,335,298 (GRCm39) critical splice donor site probably null
R4864:Slc38a6 UTSW 12 73,390,424 (GRCm39) splice site probably null
R5162:Slc38a6 UTSW 12 73,376,759 (GRCm39) missense possibly damaging 0.70
R5627:Slc38a6 UTSW 12 73,390,457 (GRCm39) missense possibly damaging 0.59
R6189:Slc38a6 UTSW 12 73,356,970 (GRCm39) missense probably damaging 1.00
R6302:Slc38a6 UTSW 12 73,383,849 (GRCm39) missense probably damaging 1.00
R6407:Slc38a6 UTSW 12 73,356,949 (GRCm39) missense probably damaging 1.00
R7289:Slc38a6 UTSW 12 73,333,786 (GRCm39) missense probably benign
R7462:Slc38a6 UTSW 12 73,397,351 (GRCm39) missense probably benign 0.15
R8031:Slc38a6 UTSW 12 73,397,377 (GRCm39) missense probably benign 0.39
R8074:Slc38a6 UTSW 12 73,391,658 (GRCm39) missense possibly damaging 0.84
R9190:Slc38a6 UTSW 12 73,388,526 (GRCm39) missense possibly damaging 0.84
R9270:Slc38a6 UTSW 12 73,398,544 (GRCm39) missense probably benign 0.01
R9406:Slc38a6 UTSW 12 73,376,767 (GRCm39) nonsense probably null
R9587:Slc38a6 UTSW 12 73,388,513 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GACACTCTCTCAGAAAGGTTTATG -3'
(R):5'- GCTCAGCTGAGAGAGTGATG -3'

Sequencing Primer
(F):5'- GGTTTATGAGAATAAAAACACCGC -3'
(R):5'- GAGACGCTCTTCCACTGATG -3'
Posted On 2021-12-30