Incidental Mutation 'IGL01467:Slc38a11'
ID88146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a11
Ensembl Gene ENSMUSG00000061171
Gene Namesolute carrier family 38, member 11
Synonyms9330158F14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01467
Quality Score
Status
Chromosome2
Chromosomal Location65316430-65364034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65316856 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 426 (T426S)
Ref Sequence ENSEMBL: ENSMUSP00000108039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112420]
Predicted Effect probably benign
Transcript: ENSMUST00000112420
AA Change: T426S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: T426S

DomainStartEndE-ValueType
Pfam:Aa_trans 32 420 1.6e-66 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000124918
AA Change: T386S
SMART Domains Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: T386S

DomainStartEndE-ValueType
Pfam:Aa_trans 26 381 8.5e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127623
AA Change: T350S
SMART Domains Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: T350S

DomainStartEndE-ValueType
Pfam:Aa_trans 1 345 1.2e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Slc38a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00668:Slc38a11 APN 2 65353782 missense probably damaging 1.00
IGL02585:Slc38a11 APN 2 65335791 missense probably benign 0.01
IGL03001:Slc38a11 APN 2 65353815 missense probably damaging 0.97
R0458:Slc38a11 UTSW 2 65363469 critical splice acceptor site probably null
R0514:Slc38a11 UTSW 2 65316865 missense probably benign 0.08
R0815:Slc38a11 UTSW 2 65353780 missense possibly damaging 0.79
R1695:Slc38a11 UTSW 2 65316971 missense probably damaging 1.00
R1751:Slc38a11 UTSW 2 65350108 missense probably benign 0.44
R1760:Slc38a11 UTSW 2 65355319 splice site probably null
R1854:Slc38a11 UTSW 2 65363516 intron probably null
R1961:Slc38a11 UTSW 2 65330339 missense possibly damaging 0.65
R1991:Slc38a11 UTSW 2 65330339 missense probably benign 0.22
R2046:Slc38a11 UTSW 2 65358185 missense probably damaging 0.99
R2078:Slc38a11 UTSW 2 65330384 missense possibly damaging 0.81
R2103:Slc38a11 UTSW 2 65330339 missense probably benign 0.22
R3154:Slc38a11 UTSW 2 65330335 missense probably damaging 0.98
R4358:Slc38a11 UTSW 2 65358116 missense probably benign 0.01
R5635:Slc38a11 UTSW 2 65361403 critical splice acceptor site probably null
R5729:Slc38a11 UTSW 2 65317021 missense probably benign 0.00
R6059:Slc38a11 UTSW 2 65334745 missense probably damaging 1.00
R6755:Slc38a11 UTSW 2 65363891 missense probably benign
R7339:Slc38a11 UTSW 2 65326570 missense probably benign
R7360:Slc38a11 UTSW 2 65353795 missense possibly damaging 0.95
Posted On2013-11-18