Incidental Mutation 'IGL00952:Slc22a29'
ID29527
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 #IGL00952
Quality Score
Status
Chromosome19
Chromosomal Location8160165-8218900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8217857 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 138 (V138E)
Ref Sequence ENSEMBL: ENSMUSP00000152815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]
Predicted Effect probably damaging
Transcript: ENSMUST00000113298
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: V138E

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 damaging
Transcript: ENSMUST00000222533
AA Change: V138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,964,799 I4S probably benign Het
Abca8b A G 11: 109,969,060 probably null Het
Aftph A T 11: 20,727,483 V42E probably damaging Het
AI467606 A G 7: 127,092,702 S150G probably damaging Het
Art4 T C 6: 136,854,820 N108D possibly damaging Het
B9d1 G A 11: 61,512,678 V167I possibly damaging Het
Ccdc47 A T 11: 106,203,532 probably null Het
Ccdc96 T A 5: 36,485,080 probably benign Het
Cfap44 A G 16: 44,421,275 I670V probably benign Het
Col18a1 T G 10: 77,069,979 K909Q possibly damaging Het
Col8a2 A G 4: 126,309,791 Y59C probably damaging Het
Coro6 A T 11: 77,468,465 D288V probably damaging Het
Cul4a C T 8: 13,146,562 L739F probably damaging Het
Dmxl2 C T 9: 54,416,882 V1073I probably damaging Het
Dnah11 T C 12: 118,196,651 T115A possibly damaging Het
Fdx1l A G 9: 21,073,262 probably null Het
Flnc C T 6: 29,459,547 Q2549* probably null Het
Foxn2 T C 17: 88,475,880 C188R probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilf3 T C 9: 21,396,051 L343P probably damaging Het
Itgb2l C T 16: 96,426,750 G518S probably damaging Het
Itpr2 T A 6: 146,158,961 I2486F probably damaging Het
Kat2a A G 11: 100,706,151 V681A probably damaging Het
Kif17 A G 4: 138,262,708 N69S possibly damaging Het
Kif26b G A 1: 178,932,205 D2106N probably damaging Het
Klf6 A G 13: 5,861,681 T15A probably benign Het
Lyst A G 13: 13,678,107 T2231A probably benign Het
Mark4 T C 7: 19,431,824 T515A possibly damaging Het
Mast3 A T 8: 70,780,683 probably benign Het
Nalcn T C 14: 123,348,789 K722R probably benign Het
Ncf2 G A 1: 152,836,106 E524K probably benign Het
Olfr1135 A T 2: 87,671,815 I184N probably damaging Het
Olfr510 A G 7: 108,668,238 N274S possibly damaging Het
Olfr681 A G 7: 105,122,407 probably null Het
Olfr895 A T 9: 38,268,505 probably benign Het
Plcg2 A T 8: 117,607,217 M910L probably benign Het
Pramef17 T C 4: 143,993,324 H157R probably benign Het
Rai1 A T 11: 60,187,992 K961* probably null Het
Rsph14 T C 10: 75,029,769 D112G probably benign Het
Sgo1 T A 17: 53,687,247 D59V probably damaging Het
Slc9a1 T A 4: 133,416,382 V393D probably damaging Het
Smg6 A G 11: 74,929,148 R82G probably benign Het
Sppl3 T C 5: 115,074,876 S55P probably benign Het
Srsf12 A C 4: 33,226,103 Q122P possibly damaging Het
Tas1r2 T C 4: 139,655,252 M67T probably benign Het
Thnsl1 G A 2: 21,211,956 V174I possibly damaging Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Tnxb T G 17: 34,713,128 Y2212D probably damaging Het
Trim40 T C 17: 36,882,397 *213W probably null Het
Ttc16 T C 2: 32,770,247 D183G 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
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
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
Posted On2013-04-17