Incidental Mutation 'IGL01796:Slc45a1'
ID 155343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc45a1
Ensembl Gene ENSMUSG00000039838
Gene Name solute carrier family 45, member 1
Synonyms Dnb5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # IGL01796
Quality Score
Status
Chromosome 4
Chromosomal Location 150713052-150736631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150728426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 126 (W126R)
Ref Sequence ENSEMBL: ENSMUSP00000112737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037827] [ENSMUST00000117997]
AlphaFold Q8BIV7
Predicted Effect probably damaging
Transcript: ENSMUST00000037827
AA Change: W126R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: W126R

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
Pfam:MFS_2 86 310 7.3e-11 PFAM
Pfam:MFS_1 92 356 1.4e-12 PFAM
transmembrane domain 529 551 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 604 626 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 680 702 N/A INTRINSIC
transmembrane domain 712 734 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117997
AA Change: W126R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
AA Change: W126R

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
Pfam:MFS_2 87 307 1.6e-12 PFAM
Pfam:MFS_1 92 362 2.4e-12 PFAM
transmembrane domain 529 551 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 604 626 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147706
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Slc45a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02009:Slc45a1 APN 4 150,722,447 (GRCm39) missense probably damaging 1.00
IGL02251:Slc45a1 APN 4 150,723,176 (GRCm39) splice site probably benign
IGL02752:Slc45a1 APN 4 150,722,478 (GRCm39) missense probably benign 0.01
IGL02881:Slc45a1 APN 4 150,722,987 (GRCm39) missense probably benign 0.36
PIT4508001:Slc45a1 UTSW 4 150,722,892 (GRCm39) missense probably benign 0.00
R0017:Slc45a1 UTSW 4 150,714,023 (GRCm39) missense possibly damaging 0.56
R0017:Slc45a1 UTSW 4 150,714,023 (GRCm39) missense possibly damaging 0.56
R0449:Slc45a1 UTSW 4 150,727,762 (GRCm39) missense probably damaging 1.00
R0756:Slc45a1 UTSW 4 150,727,054 (GRCm39) frame shift probably null
R1435:Slc45a1 UTSW 4 150,728,505 (GRCm39) missense probably damaging 1.00
R1837:Slc45a1 UTSW 4 150,722,916 (GRCm39) missense probably benign 0.00
R1943:Slc45a1 UTSW 4 150,728,734 (GRCm39) missense probably benign 0.02
R2186:Slc45a1 UTSW 4 150,722,708 (GRCm39) missense probably benign 0.01
R3766:Slc45a1 UTSW 4 150,722,517 (GRCm39) missense probably damaging 1.00
R4689:Slc45a1 UTSW 4 150,722,996 (GRCm39) missense probably benign 0.31
R4697:Slc45a1 UTSW 4 150,722,741 (GRCm39) missense probably damaging 1.00
R4709:Slc45a1 UTSW 4 150,722,697 (GRCm39) missense probably benign 0.04
R5253:Slc45a1 UTSW 4 150,722,727 (GRCm39) missense probably damaging 0.98
R5387:Slc45a1 UTSW 4 150,728,366 (GRCm39) intron probably benign
R5914:Slc45a1 UTSW 4 150,713,997 (GRCm39) missense possibly damaging 0.57
R6259:Slc45a1 UTSW 4 150,722,817 (GRCm39) missense possibly damaging 0.63
R6290:Slc45a1 UTSW 4 150,727,096 (GRCm39) missense probably damaging 1.00
R6961:Slc45a1 UTSW 4 150,714,110 (GRCm39) missense probably damaging 0.99
R6981:Slc45a1 UTSW 4 150,723,051 (GRCm39) missense possibly damaging 0.48
R7099:Slc45a1 UTSW 4 150,714,030 (GRCm39) missense probably benign 0.00
R7209:Slc45a1 UTSW 4 150,719,669 (GRCm39) splice site probably null
R7601:Slc45a1 UTSW 4 150,713,994 (GRCm39) missense possibly damaging 0.78
R7615:Slc45a1 UTSW 4 150,723,002 (GRCm39) missense probably benign 0.01
R7730:Slc45a1 UTSW 4 150,715,397 (GRCm39) missense probably damaging 1.00
R7750:Slc45a1 UTSW 4 150,728,498 (GRCm39) missense probably damaging 1.00
R8022:Slc45a1 UTSW 4 150,722,766 (GRCm39) missense possibly damaging 0.71
R8768:Slc45a1 UTSW 4 150,714,206 (GRCm39) missense probably damaging 0.98
R9006:Slc45a1 UTSW 4 150,722,731 (GRCm39) missense probably damaging 1.00
R9258:Slc45a1 UTSW 4 150,723,071 (GRCm39) missense possibly damaging 0.88
R9388:Slc45a1 UTSW 4 150,727,067 (GRCm39) missense probably damaging 1.00
R9768:Slc45a1 UTSW 4 150,722,982 (GRCm39) missense probably benign
X0026:Slc45a1 UTSW 4 150,728,507 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04