Incidental Mutation 'IGL02798:Slc7a12'
List |< first << previous [record 34 of 40] next >> last >|
ID360043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a12
Ensembl Gene ENSMUSG00000039710
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 12
SynonymsAsc-2, asc-type amino acid transporter 2, XAT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02798
Quality Score
Status
Chromosome3
Chromosomal Location14480697-14505830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 14481157 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 121 (C121S)
Ref Sequence ENSEMBL: ENSMUSP00000038574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
Predicted Effect probably damaging
Transcript: ENSMUST00000037321
AA Change: C121S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: C121S

DomainStartEndE-ValueType
Pfam:AA_permease_2 7 430 1.7e-54 PFAM
Pfam:AA_permease 11 433 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120484
SMART Domains Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120801
SMART Domains Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,040,275 C514S probably damaging Het
Alcam A G 16: 52,305,639 I105T probably damaging Het
Arhgef10l A T 4: 140,565,130 probably null Het
Arhgef17 A G 7: 100,929,626 V705A probably benign Het
C87436 T A 6: 86,446,202 C253S probably benign Het
Cbx7 T C 15: 79,918,399 T226A probably damaging Het
Cdh20 T C 1: 104,947,465 I324T probably damaging Het
Celsr3 A T 9: 108,843,575 H2608L probably damaging Het
Cramp1l A G 17: 24,968,920 probably benign Het
Ddx25 A G 9: 35,551,397 C231R probably damaging Het
Emilin2 A G 17: 71,256,695 probably benign Het
Fam46a A T 9: 85,324,884 V287E probably damaging Het
Hip1r T C 5: 123,994,712 probably benign Het
Insrr C T 3: 87,810,517 P842S probably damaging Het
Lama1 G T 17: 67,795,191 probably benign Het
Lig3 T C 11: 82,795,705 probably benign Het
Lrp4 C A 2: 91,476,710 T392K probably benign Het
Msl2 G T 9: 101,075,377 R33S probably benign Het
Nrde2 T A 12: 100,143,822 K317* probably null Het
Nub1 C A 5: 24,692,814 A42D probably damaging Het
Obox2 T C 7: 15,396,882 V13A possibly damaging Het
Olfr1341 T C 4: 118,709,499 F31L probably damaging Het
Olfr202 A T 16: 59,284,115 C127* probably null Het
Olfr729 T A 14: 50,148,378 K165N probably benign Het
Phkb T C 8: 86,043,777 Y892H probably benign Het
Ptdss1 A G 13: 66,976,760 Y341C probably damaging Het
Ripor2 A T 13: 24,674,666 D147V probably damaging Het
Scn7a T C 2: 66,713,875 D424G probably benign Het
Scn9a C T 2: 66,540,559 R559Q possibly damaging Het
Sctr G A 1: 120,022,180 C33Y probably damaging Het
Sh2b2 G T 5: 136,221,963 A419E probably damaging Het
Slc22a30 A T 19: 8,370,085 M317K probably damaging Het
Slc39a4 T C 15: 76,615,182 S178G probably benign Het
Slmap T C 14: 26,470,378 S148G possibly damaging Het
Tktl2 A G 8: 66,513,311 K507R probably benign Het
Ttn T G 2: 76,755,863 K21841N probably damaging Het
Ugcg T C 4: 59,220,346 Y380H probably damaging Het
Zfp106 T C 2: 120,510,510 T1840A probably damaging Het
Zmynd8 T C 2: 165,852,150 probably null Het
Other mutations in Slc7a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Slc7a12 APN 3 14499323 missense possibly damaging 0.46
IGL03081:Slc7a12 APN 3 14481255 missense probably benign 0.00
R1441:Slc7a12 UTSW 3 14497354 missense possibly damaging 0.89
R1672:Slc7a12 UTSW 3 14499277 missense possibly damaging 0.77
R2021:Slc7a12 UTSW 3 14497333 missense probably damaging 0.99
R2209:Slc7a12 UTSW 3 14481064 missense possibly damaging 0.81
R5471:Slc7a12 UTSW 3 14480875 missense probably damaging 1.00
R6136:Slc7a12 UTSW 3 14499126 missense probably benign 0.01
R6154:Slc7a12 UTSW 3 14481034 missense probably damaging 0.99
R6169:Slc7a12 UTSW 3 14497328 missense probably damaging 1.00
R6180:Slc7a12 UTSW 3 14481140 intron probably null
R6714:Slc7a12 UTSW 3 14481320 missense probably benign 0.14
R6723:Slc7a12 UTSW 3 14499197 missense probably benign 0.07
R7003:Slc7a12 UTSW 3 14505520 missense probably damaging 0.99
R7230:Slc7a12 UTSW 3 14505381 missense probably damaging 1.00
R7651:Slc7a12 UTSW 3 14481449 missense probably benign 0.01
Posted On2015-12-18