Incidental Mutation 'R0208:Idua'
ID 33464
Institutional Source Beutler Lab
Gene Symbol Idua
Ensembl Gene ENSMUSG00000033540
Gene Name iduronidase, alpha-L
Synonyms
MMRRC Submission 038461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0208 (G1)
Quality Score 85
Status Not validated
Chromosome 5
Chromosomal Location 108808197-108832423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108829618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 447 (F447I)
Ref Sequence ENSEMBL: ENSMUSP00000113190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000139734] [ENSMUST00000140620]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071650
AA Change: F494I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: F494I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 1.4e-223 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112563
AA Change: F494I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: F494I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 2.1e-224 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119212
AA Change: F447I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: F447I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Glyco_hydro_39 48 495 2.4e-193 PFAM
SCOP:d1bpv__ 499 596 3e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133482
Predicted Effect probably benign
Transcript: ENSMUST00000139734
SMART Domains Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 199 6.8e-80 PFAM
low complexity region 235 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140620
SMART Domains Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 150 3.4e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159464
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 96% (67/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutants show lysosomal storage in multiple tissues, increased urinary GAG, craniofacial and skeletal defects, increased body weight, impaired habituation and long-term memory for aversive training, reduced ventricular function with valve insufficiency, and progressive hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Ackr4 A G 9: 103,976,860 (GRCm39) V29A probably benign Het
Adgrb1 T C 15: 74,458,656 (GRCm39) F313L probably benign Het
Arfgef2 C T 2: 166,709,342 (GRCm39) R1140W probably damaging Het
Arhgef15 A T 11: 68,837,199 (GRCm39) N797K probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Asb2 T A 12: 103,291,530 (GRCm39) N466Y possibly damaging Het
Atp8a1 A T 5: 67,932,064 (GRCm39) probably null Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdk7 G T 13: 100,843,022 (GRCm39) D202E probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Clstn3 A G 6: 124,409,128 (GRCm39) probably benign Het
Col9a2 C T 4: 120,909,485 (GRCm39) probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gcfc2 A T 6: 81,920,444 (GRCm39) S410C probably null Het
Grik3 T A 4: 125,579,958 (GRCm39) Y568N probably damaging Het
Gsr T A 8: 34,179,383 (GRCm39) D330E possibly damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hepacam2 A T 6: 3,467,505 (GRCm39) probably benign Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mtor C A 4: 148,549,432 (GRCm39) H605Q probably benign Het
Muc19 A G 15: 91,777,218 (GRCm39) noncoding transcript Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Nptxr A T 15: 79,673,916 (GRCm39) C366S probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p73 A G 7: 108,064,750 (GRCm39) D73G probably damaging Het
Or8h9 G T 2: 86,789,748 (GRCm39) T18K probably damaging Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pde3b A G 7: 114,097,216 (GRCm39) T428A probably benign Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Polr1d A C 5: 147,015,490 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Rasip1 C A 7: 45,281,999 (GRCm39) P501T probably damaging Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Secisbp2 A G 13: 51,833,881 (GRCm39) T674A probably benign Het
Serpinb6c G A 13: 34,081,379 (GRCm39) S90L probably benign Het
Sgsm2 A G 11: 74,759,067 (GRCm39) I170T probably damaging Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Unc79 G A 12: 103,058,286 (GRCm39) V1016I probably benign Het
Usf3 C A 16: 44,037,269 (GRCm39) A583E probably damaging Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zmat4 T A 8: 24,392,083 (GRCm39) M13K probably damaging Het
Other mutations in Idua
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Idua APN 5 108,828,737 (GRCm39) missense probably benign 0.34
IGL01575:Idua APN 5 108,829,973 (GRCm39) missense possibly damaging 0.71
IGL02402:Idua APN 5 108,827,657 (GRCm39) missense probably damaging 1.00
IGL03145:Idua APN 5 108,829,362 (GRCm39) missense probably benign
Cooper UTSW 5 108,828,180 (GRCm39) missense probably damaging 1.00
R1572:Idua UTSW 5 108,828,455 (GRCm39) missense probably benign
R1731:Idua UTSW 5 108,829,538 (GRCm39) missense probably benign 0.00
R2024:Idua UTSW 5 108,828,600 (GRCm39) missense probably damaging 1.00
R2126:Idua UTSW 5 108,829,304 (GRCm39) missense possibly damaging 0.93
R3760:Idua UTSW 5 108,817,978 (GRCm39) unclassified probably benign
R4747:Idua UTSW 5 108,828,902 (GRCm39) missense probably damaging 0.97
R4832:Idua UTSW 5 108,817,247 (GRCm39) missense probably benign
R5140:Idua UTSW 5 108,828,180 (GRCm39) missense probably damaging 1.00
R5543:Idua UTSW 5 108,818,095 (GRCm39) missense probably benign 0.22
R5643:Idua UTSW 5 108,828,090 (GRCm39) utr 3 prime probably benign
R5821:Idua UTSW 5 108,827,600 (GRCm39) missense probably benign 0.29
R6004:Idua UTSW 5 108,828,510 (GRCm39) missense probably benign
R6330:Idua UTSW 5 108,829,574 (GRCm39) missense probably benign 0.21
R6963:Idua UTSW 5 108,827,641 (GRCm39) missense possibly damaging 0.84
R7180:Idua UTSW 5 108,828,761 (GRCm39) missense probably benign 0.43
R7453:Idua UTSW 5 108,829,362 (GRCm39) missense probably benign
R7575:Idua UTSW 5 108,829,565 (GRCm39) missense probably damaging 1.00
R7712:Idua UTSW 5 108,829,388 (GRCm39) missense probably benign 0.10
R7923:Idua UTSW 5 108,828,449 (GRCm39) missense probably damaging 1.00
R7980:Idua UTSW 5 108,828,486 (GRCm39) missense probably benign 0.00
R8026:Idua UTSW 5 108,818,115 (GRCm39) missense probably benign 0.01
R8029:Idua UTSW 5 108,817,278 (GRCm39) missense probably benign 0.23
R8074:Idua UTSW 5 108,828,441 (GRCm39) missense possibly damaging 0.65
R8089:Idua UTSW 5 108,829,646 (GRCm39) missense probably damaging 1.00
R8384:Idua UTSW 5 108,829,305 (GRCm39) missense possibly damaging 0.70
R9040:Idua UTSW 5 108,828,929 (GRCm39) missense probably damaging 1.00
R9717:Idua UTSW 5 108,818,037 (GRCm39) nonsense probably null
Z1177:Idua UTSW 5 108,828,489 (GRCm39) frame shift probably null
Z1177:Idua UTSW 5 108,827,450 (GRCm39) missense probably null 0.80
Predicted Primers PCR Primer
(F):5'- TGTTGGACAGCAATCATACAGTGGG -3'
(R):5'- TGCATACATGCACCAGCAGGAG -3'

Sequencing Primer
(F):5'- TGGAGTACCACAGTCCTCATC -3'
(R):5'- TGCACCAGCAGGAGTGATG -3'
Posted On 2013-05-09