Incidental Mutation 'IGL02408:Slc22a29'
ID292188
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 #IGL02408
Quality Score
Status
Chromosome19
Chromosomal Location8160165-8218900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 8207285 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 214 (S214A)
Ref Sequence ENSEMBL: ENSMUSP00000152815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]
Predicted Effect probably benign
Transcript: ENSMUST00000113298
AA Change: S214A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: S214A

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: 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: S214A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,644,171 Y278C probably damaging Het
Abcd2 A G 15: 91,178,241 L498P possibly damaging Het
Acot11 A G 4: 106,758,381 F271S probably damaging Het
Acr T A 15: 89,570,014 Y185N probably damaging Het
Adcy10 C T 1: 165,538,380 R489C probably damaging Het
Arsb A G 13: 93,794,162 T213A probably benign Het
Atg2a T A 19: 6,241,828 C11* probably null Het
B3galt6 A T 4: 155,991,695 Y308N probably damaging Het
Cd226 A G 18: 89,207,327 N116S probably benign Het
Crat T A 2: 30,407,134 D269V probably damaging Het
Crim1 T A 17: 78,315,654 I427N possibly damaging Het
Dock3 T C 9: 106,913,099 probably benign Het
Dsg1c T A 18: 20,274,719 V374E probably damaging Het
Dtl A G 1: 191,541,240 S519P probably benign Het
Fastkd1 C T 2: 69,702,601 R474H probably benign Het
Fbxo10 T C 4: 45,058,361 T459A possibly damaging Het
Frmd4b A G 6: 97,295,809 L828P probably damaging Het
Gc T C 5: 89,445,396 S55G probably benign Het
Gm6455 T G 5: 10,867,290 noncoding transcript Het
Gnai2 T C 9: 107,616,194 T280A probably benign Het
Hmgn2 A G 4: 133,965,949 probably null Het
Jmjd1c G T 10: 67,226,382 A1505S probably benign Het
Lrriq1 T C 10: 103,146,281 K1393E probably benign Het
Mcam A G 9: 44,140,250 N469D probably benign Het
Mrpl47 A G 3: 32,736,640 probably null Het
Mslnl C T 17: 25,747,998 A659V possibly damaging Het
Nlrp1a A G 11: 71,122,630 V598A probably benign Het
Npff A T 15: 102,524,565 L15Q probably null Het
Obsl1 G T 1: 75,505,246 Q327K probably damaging Het
Olfr46 T C 7: 140,610,931 V255A probably damaging Het
Olfr48 T A 2: 89,844,971 M1L probably benign Het
Olfr58 A T 9: 19,783,415 Y94F probably benign Het
Olfr591 T C 7: 103,173,451 Y62C probably damaging Het
Olfr914 G A 9: 38,607,121 G219S possibly damaging Het
Pdzd2 T A 15: 12,375,765 H1428L probably benign Het
Phldb1 T C 9: 44,715,906 E414G possibly damaging Het
Reln T C 5: 21,901,619 D3251G probably benign Het
Secisbp2l G T 2: 125,740,869 S889* probably null Het
Setx T A 2: 29,133,930 C133S probably damaging Het
Slc30a5 A C 13: 100,813,724 L285R probably damaging Het
Taar7a T G 10: 23,992,602 I294L probably benign Het
Tfap2b T A 1: 19,234,261 F414I probably damaging Het
Trpc4ap A T 2: 155,671,069 Y129N possibly damaging Het
Vmn2r94 T C 17: 18,253,261 E501G probably benign Het
Xpot T C 10: 121,603,165 H709R probably damaging Het
Zfhx3 T A 8: 108,955,372 probably benign Het
Zscan22 T G 7: 12,906,499 H223Q probably benign 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
IGL02391:Slc22a29 APN 19 8169353 missense probably benign 0.13
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
Posted On2015-04-16