Incidental Mutation 'IGL02391:Slc22a29'
ID293844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a29
Ensembl Gene ENSMUSG00000075044
Gene Namesolute carrier family 22. member 29
SynonymsD630002G06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02391
Quality Score
Status
Chromosome19
Chromosomal Location8160165-8218900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8169353 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 362 (S362T)
Ref Sequence ENSEMBL: ENSMUSP00000152815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]
Predicted Effect probably benign
Transcript: ENSMUST00000113298
AA Change: S362T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: S362T

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 528 1.3e-25 PFAM
Pfam:MFS_1 140 372 7.7e-14 PFAM
Pfam:MFS_1 348 549 6.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140910
SMART Domains Protein: ENSMUSP00000117625
Gene: ENSMUSG00000075044

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 98 454 4.6e-20 PFAM
Pfam:MFS_1 137 462 3.6e-15 PFAM
low complexity region 467 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149182
SMART Domains Protein: ENSMUSP00000122262
Gene: ENSMUSG00000075044

DomainStartEndE-ValueType
Pfam:Sugar_tr 62 418 2.2e-20 PFAM
Pfam:MFS_1 101 427 1.9e-15 PFAM
low complexity region 431 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222533
AA Change: S362T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc174 A G 6: 91,898,282 E364G possibly damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Slc22a29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc22a29 APN 19 8217813 missense probably benign 0.44
IGL00562:Slc22a29 APN 19 8161629 missense probably benign 0.03
IGL00563:Slc22a29 APN 19 8161629 missense probably benign 0.03
IGL00952:Slc22a29 APN 19 8217857 missense probably damaging 1.00
IGL01526:Slc22a29 APN 19 8207178 splice site probably benign
IGL01792:Slc22a29 APN 19 8218529 missense probably damaging 1.00
IGL02191:Slc22a29 APN 19 8218681 unclassified probably benign
IGL02408:Slc22a29 APN 19 8207285 missense probably benign 0.00
IGL02957:Slc22a29 APN 19 8169990 missense probably benign 0.01
IGL03059:Slc22a29 APN 19 8169990 missense probably benign 0.01
IGL03299:Slc22a29 APN 19 8162648 critical splice donor site probably null
IGL03368:Slc22a29 APN 19 8207262 critical splice donor site probably null
R0017:Slc22a29 UTSW 19 8218266 splice site probably benign
R0105:Slc22a29 UTSW 19 8160627 unclassified probably benign
R0157:Slc22a29 UTSW 19 8162742 missense possibly damaging 0.61
R0265:Slc22a29 UTSW 19 8169970 missense probably benign 0.18
R1758:Slc22a29 UTSW 19 8217762 critical splice donor site probably null
R1918:Slc22a29 UTSW 19 8217759 splice site probably null
R1927:Slc22a29 UTSW 19 8207066 missense probably benign 0.01
R1959:Slc22a29 UTSW 19 8169193 missense probably benign 0.05
R1960:Slc22a29 UTSW 19 8169193 missense probably benign 0.05
R1961:Slc22a29 UTSW 19 8169193 missense probably benign 0.05
R1966:Slc22a29 UTSW 19 8218408 missense probably damaging 1.00
R1968:Slc22a29 UTSW 19 8218343 missense probably benign 0.27
R1997:Slc22a29 UTSW 19 8217798 missense probably benign 0.00
R3105:Slc22a29 UTSW 19 8169973 missense probably benign 0.25
R3725:Slc22a29 UTSW 19 8218609 missense possibly damaging 0.78
R4118:Slc22a29 UTSW 19 8160529 unclassified probably benign
R4465:Slc22a29 UTSW 19 8162724 nonsense probably null
R4584:Slc22a29 UTSW 19 8169291 missense probably benign 0.02
R4656:Slc22a29 UTSW 19 8218300 missense possibly damaging 0.90
R4679:Slc22a29 UTSW 19 8161584 missense possibly damaging 0.65
R4899:Slc22a29 UTSW 19 8161569 missense probably benign 0.00
R4913:Slc22a29 UTSW 19 8218358 missense probably benign 0.17
R5119:Slc22a29 UTSW 19 8217830 missense probably damaging 0.99
R5470:Slc22a29 UTSW 19 8161516 missense probably benign 0.01
R5474:Slc22a29 UTSW 19 8217857 missense probably damaging 1.00
R6794:Slc22a29 UTSW 19 8161523 missense probably benign 0.06
R6798:Slc22a29 UTSW 19 8160604 missense probably benign 0.16
R7025:Slc22a29 UTSW 19 8160580 missense probably benign
R7240:Slc22a29 UTSW 19 8161511 missense probably damaging 0.98
R7535:Slc22a29 UTSW 19 8169978 missense probably damaging 1.00
R7846:Slc22a29 UTSW 19 8193487 missense probably benign 0.39
R8169:Slc22a29 UTSW 19 8207332 missense probably damaging 1.00
R8275:Slc22a29 UTSW 19 8169317 missense probably benign 0.00
Posted On2015-04-16