Incidental Mutation 'IGL02429:Slc38a6'
ID293050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a6
Ensembl Gene ENSMUSG00000044712
Gene Namesolute carrier family 38, member 6
SynonymsEG625098
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.409) question?
Stock #IGL02429
Quality Score
Status
Chromosome12
Chromosomal Location73286779-73354049 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73350568 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 328 (V328A)
Ref Sequence ENSEMBL: ENSMUSP00000120810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140523]
Predicted Effect probably benign
Transcript: ENSMUST00000140523
AA Change: V328A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
AA Change: V328A

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222671
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Slc38a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc38a6 APN 12 73351803 missense probably benign 0.00
IGL01083:Slc38a6 APN 12 73288493 missense possibly damaging 0.94
IGL01302:Slc38a6 APN 12 73288525 critical splice donor site probably null
IGL02106:Slc38a6 APN 12 73350546 missense possibly damaging 0.84
IGL02815:Slc38a6 APN 12 73292205 missense probably damaging 1.00
IGL03001:Slc38a6 APN 12 73337053 missense probably benign 0.03
IGL03167:Slc38a6 APN 12 73350537 nonsense probably null
R0394:Slc38a6 UTSW 12 73352530 missense probably benign
R0918:Slc38a6 UTSW 12 73344785 splice site probably null
R1377:Slc38a6 UTSW 12 73350571 missense probably damaging 0.98
R1533:Slc38a6 UTSW 12 73344852 missense probably benign 0.11
R4171:Slc38a6 UTSW 12 73350552 missense probably benign 0.21
R4579:Slc38a6 UTSW 12 73288524 critical splice donor site probably null
R4864:Slc38a6 UTSW 12 73343650 intron probably null
R5162:Slc38a6 UTSW 12 73329985 missense possibly damaging 0.70
R5627:Slc38a6 UTSW 12 73343683 missense possibly damaging 0.59
R6189:Slc38a6 UTSW 12 73310196 missense probably damaging 1.00
R6302:Slc38a6 UTSW 12 73337075 missense probably damaging 1.00
R6407:Slc38a6 UTSW 12 73310175 missense probably damaging 1.00
Posted On2015-04-16