Incidental Mutation 'IGL02932:Slc38a7'
ID364158
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: 0.297) question?
Stock #IGL02932
Quality Score
Status
Chromosome8
Chromosomal Location95835920-95853539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 95846155 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 149 (I149M)
Ref Sequence ENSEMBL: ENSMUSP00000148659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040481] [ENSMUST00000212270] [ENSMUST00000212628]
Predicted Effect probably damaging
Transcript: ENSMUST00000040481
AA Change: I149M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: I149M

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 damaging
Transcript: ENSMUST00000212270
AA Change: I149M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212628
AA Change: I149M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null 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
IGL01990:Slc38a7 APN 8 95844962 nonsense probably null
IGL02424:Slc38a7 APN 8 95841572 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 On2015-12-18