Incidental Mutation 'IGL01990:Slc38a7'
ID182029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a7
Ensembl Gene ENSMUSG00000036534
Gene Namesolute carrier family 38, member 7
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock #IGL01990
Quality Score
Status
Chromosome8
Chromosomal Location95835920-95853539 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 95844962 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 213 (W213*)
Ref Sequence ENSEMBL: ENSMUSP00000148545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040481] [ENSMUST00000212270] [ENSMUST00000212628]
Predicted Effect probably null
Transcript: ENSMUST00000040481
AA Change: W213*
SMART Domains Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: W213*

DomainStartEndE-ValueType
Pfam:Trp_Tyr_perm 49 334 3.4e-12 PFAM
Pfam:Aa_trans 49 457 3.1e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153835
Predicted Effect probably null
Transcript: ENSMUST00000212270
AA Change: W213*
Predicted Effect probably null
Transcript: ENSMUST00000212628
AA Change: W213*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Cnr2 C T 4: 135,916,805 R65C probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Igfbp3 C A 11: 7,208,504 R253L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc5a4b T C 10: 76,060,354 E589G probably benign Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Xkr9 A G 1: 13,700,979 I240V probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Zfp551 C T 7: 12,422,416 V25M possibly damaging Het
Other mutations in Slc38a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Slc38a7 APN 8 95840477 unclassified probably benign
IGL00816:Slc38a7 APN 8 95844120 missense probably damaging 1.00
IGL01781:Slc38a7 APN 8 95843758 critical splice donor site probably null
IGL02424:Slc38a7 APN 8 95841572 missense probably damaging 1.00
IGL02932:Slc38a7 APN 8 95846155 missense probably damaging 1.00
IGL03277:Slc38a7 APN 8 95848476 missense probably damaging 1.00
R0082:Slc38a7 UTSW 8 95840481 unclassified probably benign
R0271:Slc38a7 UTSW 8 95845878 missense probably damaging 0.98
R1479:Slc38a7 UTSW 8 95848494 missense probably benign
R2246:Slc38a7 UTSW 8 95843840 missense probably damaging 0.97
R2897:Slc38a7 UTSW 8 95845796 splice site probably benign
R2920:Slc38a7 UTSW 8 95845943 missense possibly damaging 0.85
R3746:Slc38a7 UTSW 8 95843752 splice site probably benign
R3884:Slc38a7 UTSW 8 95846181 missense probably damaging 1.00
R4885:Slc38a7 UTSW 8 95848602 missense probably benign
R5073:Slc38a7 UTSW 8 95841650 missense probably damaging 1.00
R6249:Slc38a7 UTSW 8 95837674 splice site probably null
R6379:Slc38a7 UTSW 8 95848527 missense probably benign
R6821:Slc38a7 UTSW 8 95844920 missense probably benign 0.25
R7735:Slc38a7 UTSW 8 95841667 missense probably benign 0.00
Posted On2014-05-07