Incidental Mutation 'R2024:Idua'
| ID |
220262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idua
|
| Ensembl Gene |
ENSMUSG00000033540 |
| Gene Name |
iduronidase, alpha-L |
| Synonyms |
|
| MMRRC Submission |
040033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R2024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108808197-108832423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108828600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 271
(A271V)
|
| 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: A318V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: A318V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A318V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: A318V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A271V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: A271V
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 90.8%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
A |
G |
15: 96,259,680 (GRCm39) |
D280G |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,917,672 (GRCm39) |
D757G |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,390 (GRCm39) |
R77* |
probably null |
Het |
| Chd8 |
T |
C |
14: 52,468,950 (GRCm39) |
D556G |
probably benign |
Het |
| Cit |
T |
C |
5: 116,085,983 (GRCm39) |
M849T |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,143,899 (GRCm39) |
S1923P |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,639,185 (GRCm39) |
H1120L |
probably benign |
Het |
| Col6a5 |
G |
T |
9: 105,814,193 (GRCm39) |
H606Q |
unknown |
Het |
| Dnajc2 |
A |
C |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,914,457 (GRCm39) |
D514G |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,129,062 (GRCm39) |
S1818P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
| Emc1 |
G |
A |
4: 139,088,257 (GRCm39) |
E342K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,329,592 (GRCm39) |
D45G |
probably benign |
Het |
| Fchsd2 |
A |
C |
7: 100,847,740 (GRCm39) |
D210A |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,186,722 (GRCm39) |
M58K |
probably damaging |
Het |
| Gabra5 |
G |
A |
7: 57,138,698 (GRCm39) |
R117C |
probably damaging |
Het |
| Gm6741 |
G |
A |
17: 91,544,309 (GRCm39) |
S24N |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,462,107 (GRCm39) |
D675G |
possibly damaging |
Het |
| Hectd4 |
T |
G |
5: 121,419,981 (GRCm39) |
V642G |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,560,317 (GRCm39) |
T119M |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,206,530 (GRCm39) |
S371P |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,623,072 (GRCm39) |
C125* |
probably null |
Het |
| Krt14 |
C |
T |
11: 100,098,044 (GRCm39) |
G80R |
unknown |
Het |
| Lama5 |
T |
C |
2: 179,820,923 (GRCm39) |
Y3176C |
probably benign |
Het |
| Lce1k |
C |
T |
3: 92,713,809 (GRCm39) |
C125Y |
unknown |
Het |
| Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
| Meioc |
C |
T |
11: 102,566,184 (GRCm39) |
A600V |
probably benign |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Mms22l |
A |
G |
4: 24,588,365 (GRCm39) |
Y999C |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,944,346 (GRCm39) |
M116K |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,428,266 (GRCm39) |
I38T |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,168 (GRCm39) |
M199K |
possibly damaging |
Het |
| Padi6 |
T |
G |
4: 140,456,279 (GRCm39) |
I572L |
possibly damaging |
Het |
| Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,746,272 (GRCm39) |
V1906A |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,410,404 (GRCm39) |
|
probably benign |
Het |
| Psmd9 |
T |
C |
5: 123,379,925 (GRCm39) |
F115L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,415 (GRCm39) |
F160L |
probably damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,720,665 (GRCm39) |
R234S |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,245 (GRCm39) |
Y40F |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,201 (GRCm39) |
V672A |
possibly damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,393,857 (GRCm39) |
I287V |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,703 (GRCm39) |
E1033G |
probably benign |
Het |
| Slc5a9 |
G |
A |
4: 111,747,728 (GRCm39) |
T284I |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,872,507 (GRCm39) |
L743P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,677,923 (GRCm39) |
N1473I |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
| Tectb |
T |
C |
19: 55,170,361 (GRCm39) |
F71L |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,882,858 (GRCm39) |
V1921A |
probably damaging |
Het |
| Ubn1 |
T |
G |
16: 4,882,487 (GRCm39) |
L316W |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,647,357 (GRCm39) |
S579P |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,228,300 (GRCm39) |
L367P |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,974 (GRCm39) |
Y324S |
possibly damaging |
Het |
|
| Other mutations in Idua |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- AGCCTGTACTGAGTGAGGTATG -3'
(R):5'- AGGCATTGTCATTGCTGAGG -3'
Sequencing Primer
(F):5'- CCTGTACTGAGTGAGGTATGTGCTG -3'
(R):5'- CACATAGCGCATGGAGGAACTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation