Incidental Mutation 'IGL02957:Slc22a29'
ID 365173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a29
Ensembl Gene ENSMUSG00000075044
Gene Name solute carrier family 22. member 29
Synonyms D630002G06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02957
Quality Score
Status
Chromosome 19
Chromosomal Location 8137529-8196264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8147354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 336 (L336P)
Ref Sequence ENSEMBL: ENSMUSP00000152815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]
AlphaFold Q8BWG6
Predicted Effect probably benign
Transcript: ENSMUST00000113298
AA Change: L336P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: L336P

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: L336P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,509,945 (GRCm39) D262G probably damaging Het
Abtb3 T A 10: 85,469,701 (GRCm39) M405K probably damaging Het
Abtb3 C T 10: 85,467,150 (GRCm39) probably benign Het
Ahcyl1 G T 3: 107,574,958 (GRCm39) Q462K probably damaging Het
C8b A G 4: 104,623,652 (GRCm39) T20A probably benign Het
Casd1 T A 6: 4,634,068 (GRCm39) Y594N possibly damaging Het
Crtc2 C T 3: 90,169,840 (GRCm39) P412L probably damaging Het
Cyp3a44 T A 5: 145,716,472 (GRCm39) R373* probably null Het
Dnah10 A G 5: 124,840,197 (GRCm39) D1277G probably benign Het
Dnah2 A T 11: 69,339,333 (GRCm39) V3058E possibly damaging Het
Eif3l T C 15: 78,974,028 (GRCm39) L481P probably benign Het
Fbxw7 A T 3: 84,883,544 (GRCm39) T573S probably benign Het
Fcgbp C A 7: 27,791,272 (GRCm39) Y844* probably null Het
Fcrl2 C A 3: 87,169,501 (GRCm39) V13F possibly damaging Het
Gbx2 T G 1: 89,858,375 (GRCm39) S35R probably benign Het
H2-M9 A G 17: 36,953,049 (GRCm39) L86S probably benign Het
Hebp1 C T 6: 135,114,990 (GRCm39) G157D probably benign Het
Igf2bp3 C A 6: 49,064,338 (GRCm39) V560L probably benign Het
Igsf10 A G 3: 59,238,285 (GRCm39) I632T probably damaging Het
Kcnab2 A T 4: 152,520,326 (GRCm39) S5T possibly damaging Het
Kcnh5 T C 12: 75,054,439 (GRCm39) S502G probably benign Het
Lpcat2 T A 8: 93,602,212 (GRCm39) Y224* probably null Het
Mcrip2 A G 17: 26,087,499 (GRCm39) V24A probably damaging Het
Mttp T C 3: 137,814,842 (GRCm39) K493E possibly damaging Het
Myl7 A G 11: 5,847,137 (GRCm39) S139P possibly damaging Het
Npepps C T 11: 97,133,478 (GRCm39) R268H probably damaging Het
Oas1c C T 5: 120,943,478 (GRCm39) W18* probably null Het
Or10ak7 G T 4: 118,791,316 (GRCm39) T241N probably damaging Het
P4ha3 T C 7: 99,968,112 (GRCm39) probably benign Het
Pate14 G T 9: 36,549,146 (GRCm39) T38K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkhd1l1 T A 15: 44,376,304 (GRCm39) W989R probably damaging Het
Podxl A G 6: 31,505,384 (GRCm39) probably benign Het
Pot1b T C 17: 56,007,009 (GRCm39) Y36C probably damaging Het
Ppme1 A T 7: 99,987,647 (GRCm39) I103K possibly damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Pramel1 A G 4: 143,124,168 (GRCm39) H281R probably benign Het
Prep T C 10: 45,002,126 (GRCm39) V427A probably benign Het
Prkce A G 17: 86,803,454 (GRCm39) D451G possibly damaging Het
Prrc2c A G 1: 162,534,104 (GRCm39) probably benign Het
Ramacl A T 13: 67,056,277 (GRCm39) probably benign Het
Rrm2 A G 12: 24,758,440 (GRCm39) N32S probably damaging Het
Sema6a A G 18: 47,382,291 (GRCm39) L752P probably damaging Het
Sik3 T A 9: 46,107,143 (GRCm39) I429N possibly damaging Het
Stk32a A T 18: 43,445,057 (GRCm39) M284L probably benign Het
Syde2 T C 3: 145,694,934 (GRCm39) probably benign Het
Tcta G A 9: 108,182,531 (GRCm39) S91F possibly damaging Het
Traf3ip2 A T 10: 39,530,406 (GRCm39) T517S probably damaging Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r66 A G 7: 10,008,737 (GRCm39) S99P probably damaging Het
Vmn2r8 G A 5: 108,950,091 (GRCm39) T252M probably benign Het
Wdr27 A T 17: 15,130,372 (GRCm39) probably benign Het
Yipf1 A G 4: 107,193,347 (GRCm39) T78A probably damaging Het
Zfp735 A T 11: 73,601,755 (GRCm39) Y233F probably benign Het
Other mutations in Slc22a29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc22a29 APN 19 8,195,177 (GRCm39) missense probably benign 0.44
IGL00562:Slc22a29 APN 19 8,138,993 (GRCm39) missense probably benign 0.03
IGL00563:Slc22a29 APN 19 8,138,993 (GRCm39) missense probably benign 0.03
IGL00952:Slc22a29 APN 19 8,195,221 (GRCm39) missense probably damaging 1.00
IGL01526:Slc22a29 APN 19 8,184,542 (GRCm39) splice site probably benign
IGL01792:Slc22a29 APN 19 8,195,893 (GRCm39) missense probably damaging 1.00
IGL02191:Slc22a29 APN 19 8,196,045 (GRCm39) unclassified probably benign
IGL02391:Slc22a29 APN 19 8,146,717 (GRCm39) missense probably benign 0.13
IGL02408:Slc22a29 APN 19 8,184,649 (GRCm39) missense probably benign 0.00
IGL03059:Slc22a29 APN 19 8,147,354 (GRCm39) missense probably benign 0.01
IGL03299:Slc22a29 APN 19 8,140,012 (GRCm39) critical splice donor site probably null
IGL03368:Slc22a29 APN 19 8,184,626 (GRCm39) critical splice donor site probably null
R0017:Slc22a29 UTSW 19 8,195,630 (GRCm39) splice site probably benign
R0105:Slc22a29 UTSW 19 8,137,991 (GRCm39) unclassified probably benign
R0157:Slc22a29 UTSW 19 8,140,106 (GRCm39) missense possibly damaging 0.61
R0265:Slc22a29 UTSW 19 8,147,334 (GRCm39) missense probably benign 0.18
R1758:Slc22a29 UTSW 19 8,195,126 (GRCm39) critical splice donor site probably null
R1918:Slc22a29 UTSW 19 8,195,123 (GRCm39) splice site probably null
R1927:Slc22a29 UTSW 19 8,184,430 (GRCm39) missense probably benign 0.01
R1959:Slc22a29 UTSW 19 8,146,557 (GRCm39) missense probably benign 0.05
R1960:Slc22a29 UTSW 19 8,146,557 (GRCm39) missense probably benign 0.05
R1961:Slc22a29 UTSW 19 8,146,557 (GRCm39) missense probably benign 0.05
R1966:Slc22a29 UTSW 19 8,195,772 (GRCm39) missense probably damaging 1.00
R1968:Slc22a29 UTSW 19 8,195,707 (GRCm39) missense probably benign 0.27
R1997:Slc22a29 UTSW 19 8,195,162 (GRCm39) missense probably benign 0.00
R3105:Slc22a29 UTSW 19 8,147,337 (GRCm39) missense probably benign 0.25
R3725:Slc22a29 UTSW 19 8,195,973 (GRCm39) missense possibly damaging 0.78
R4118:Slc22a29 UTSW 19 8,137,893 (GRCm39) unclassified probably benign
R4465:Slc22a29 UTSW 19 8,140,088 (GRCm39) nonsense probably null
R4584:Slc22a29 UTSW 19 8,146,655 (GRCm39) missense probably benign 0.02
R4656:Slc22a29 UTSW 19 8,195,664 (GRCm39) missense possibly damaging 0.90
R4679:Slc22a29 UTSW 19 8,138,948 (GRCm39) missense possibly damaging 0.65
R4899:Slc22a29 UTSW 19 8,138,933 (GRCm39) missense probably benign 0.00
R4913:Slc22a29 UTSW 19 8,195,722 (GRCm39) missense probably benign 0.17
R5119:Slc22a29 UTSW 19 8,195,194 (GRCm39) missense probably damaging 0.99
R5470:Slc22a29 UTSW 19 8,138,880 (GRCm39) missense probably benign 0.01
R5474:Slc22a29 UTSW 19 8,195,221 (GRCm39) missense probably damaging 1.00
R6794:Slc22a29 UTSW 19 8,138,887 (GRCm39) missense probably benign 0.06
R6798:Slc22a29 UTSW 19 8,137,968 (GRCm39) missense probably benign 0.16
R7025:Slc22a29 UTSW 19 8,137,944 (GRCm39) missense probably benign
R7240:Slc22a29 UTSW 19 8,138,875 (GRCm39) missense probably damaging 0.98
R7535:Slc22a29 UTSW 19 8,147,342 (GRCm39) missense probably damaging 1.00
R7846:Slc22a29 UTSW 19 8,170,851 (GRCm39) missense probably benign 0.39
R8169:Slc22a29 UTSW 19 8,184,696 (GRCm39) missense probably damaging 1.00
R8275:Slc22a29 UTSW 19 8,146,681 (GRCm39) missense probably benign 0.00
R8403:Slc22a29 UTSW 19 8,139,004 (GRCm39) missense possibly damaging 0.95
R8872:Slc22a29 UTSW 19 8,137,931 (GRCm39) missense probably damaging 0.99
R9129:Slc22a29 UTSW 19 8,146,669 (GRCm39) missense probably benign 0.03
R9381:Slc22a29 UTSW 19 8,195,841 (GRCm39) missense probably benign 0.03
R9550:Slc22a29 UTSW 19 8,195,224 (GRCm39) nonsense probably null
R9645:Slc22a29 UTSW 19 8,184,488 (GRCm39) missense probably benign 0.04
R9673:Slc22a29 UTSW 19 8,140,104 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18