Incidental Mutation 'R6330:Idua'
ID 510851
Institutional Source Beutler Lab
Gene Symbol Idua
Ensembl Gene ENSMUSG00000033540
Gene Name iduronidase, alpha-L
Synonyms
MMRRC Submission 044484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6330 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108808197-108832423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108829574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 432 (L432H)
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 benign
Transcript: ENSMUST00000071650
AA Change: L479H

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: L479H

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 1.4e-223 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112563
AA Change: L479H

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: L479H

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 2.1e-224 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119212
AA Change: L432H

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: L432H

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T A 16: 88,423,939 (GRCm39) H184L probably benign Het
Ccar1 A G 10: 62,600,312 (GRCm39) Y540H probably damaging Het
Celf2 A G 2: 6,889,766 (GRCm39) F2L probably benign Het
Cfap57 T C 4: 118,426,593 (GRCm39) I1119V probably benign Het
Clec4f T C 6: 83,629,850 (GRCm39) Q236R probably damaging Het
Cstdc2 G T 2: 148,692,745 (GRCm39) A19D probably damaging Het
Cyp4a31 C T 4: 115,421,074 (GRCm39) P54L probably damaging Het
Dapk1 T C 13: 60,909,140 (GRCm39) V1251A probably benign Het
Dnah7b G A 1: 46,379,335 (GRCm39) V3690M probably damaging Het
Dock9 A T 14: 121,842,655 (GRCm39) M1K probably null Het
Emb T G 13: 117,385,666 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
F7 C T 8: 13,085,140 (GRCm39) H389Y probably damaging Het
Fam111a T A 19: 12,564,266 (GRCm39) I49K probably damaging Het
Fam50b T G 13: 34,930,652 (GRCm39) S43A probably benign Het
Gbp7 A T 3: 142,252,259 (GRCm39) Y614F probably benign Het
Gli3 T A 13: 15,899,317 (GRCm39) D901E probably damaging Het
Hhatl C T 9: 121,617,291 (GRCm39) probably null Het
Ighv10-3 T A 12: 114,487,086 (GRCm39) T112S possibly damaging Het
Kcnj6 T A 16: 94,563,460 (GRCm39) D346V possibly damaging Het
Lrba A G 3: 86,255,664 (GRCm39) D1002G probably benign Het
Lrrd1 T A 5: 3,900,629 (GRCm39) S311R probably damaging Het
Mafk A G 5: 139,784,948 (GRCm39) N4S probably benign Het
Mfsd14b T C 13: 65,243,500 (GRCm39) Y48C probably damaging Het
Mindy3 C T 2: 12,361,744 (GRCm39) A333T probably damaging Het
Mlxip G A 5: 123,533,015 (GRCm39) C8Y probably benign Het
Mthfd1l A T 10: 3,930,234 (GRCm39) M110L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Or14j7 T C 17: 38,234,685 (GRCm39) V76A possibly damaging Het
Or1af1 A T 2: 37,110,136 (GRCm39) I212F probably benign Het
Orc2 C A 1: 58,539,493 (GRCm39) V49L probably benign Het
Pfkp C T 13: 6,635,286 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,373,541 (GRCm39) F1359S probably benign Het
Ralgps1 A T 2: 33,064,455 (GRCm39) I222N probably damaging Het
Rrad T G 8: 105,356,492 (GRCm39) E136A probably benign Het
Serpine3 T C 14: 62,902,430 (GRCm39) S14P probably benign Het
Slc2a12 A G 10: 22,540,894 (GRCm39) T250A probably benign Het
Slc4a5 T G 6: 83,203,356 (GRCm39) F85L probably benign Het
Stx18 T A 5: 38,284,261 (GRCm39) probably null Het
Tbcd T C 11: 121,387,912 (GRCm39) S348P probably benign Het
Usp9y T C Y: 1,340,123 (GRCm39) T1419A probably benign Homo
Vmn2r69 T C 7: 85,060,835 (GRCm39) S250G probably benign Het
Vmn2r86 A G 10: 130,282,396 (GRCm39) V740A probably benign Het
Vwa5b2 T A 16: 20,420,727 (GRCm39) I846N probably damaging Het
Zfp74 A T 7: 29,637,412 (GRCm39) Y33N probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly 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
R0208:Idua UTSW 5 108,829,618 (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
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'- TACCACAGTCCTCATCTACACTAGTG -3'
(R):5'- TAATGAAGGGCCCGTGGTTG -3'

Sequencing Primer
(F):5'- AGTCCTCATCTACACTAGTGATGAC -3'
(R):5'- CCGTGGTTGGCAAATCTCAGTAC -3'
Posted On 2018-04-02