Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Idua'

199303

Institutional Source

Beutler Lab

Gene Symbol

Idua

Ensembl Gene

ENSMUSG00000033540

Gene Name

iduronidase, alpha-L

Synonyms

MMRRC Submission

039763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108808197-108832423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108829538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 467 (D467G)

Ref Sequence

ENSEMBL: ENSMUSP00000108182 (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: D467G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: D467G

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 benign
Transcript: ENSMUST00000112563
AA Change: D467G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: D467G

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 benign
Transcript: ENSMUST00000119212
AA Change: D420G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: D420G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,805 (GRCm39)	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,246,623 (GRCm39)	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,030,250 (GRCm39)	I205T	possibly damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf2	C	T	2: 73,675,853 (GRCm39)	G123E	probably damaging	Het
Baz1a	T	C	12: 54,965,330 (GRCm39)	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,175,512 (GRCm39)		probably null	Het
Capzb	T	A	4: 139,007,341 (GRCm39)	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442 (GRCm39)	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,735,141 (GRCm39)	H764Q	possibly damaging	Het
Cep131	T	C	11: 119,967,742 (GRCm39)		probably null	Het
Ces2e	T	C	8: 105,656,208 (GRCm39)	V173A	probably damaging	Het
Clstn3	T	C	6: 124,408,591 (GRCm39)	D944G	probably benign	Het
Cyb5rl	C	A	4: 106,938,110 (GRCm39)	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,801,133 (GRCm39)	S41P	probably damaging	Het
Dscam	A	G	16: 96,621,076 (GRCm39)	L544P	probably damaging	Het
Epha2	A	G	4: 141,049,063 (GRCm39)	K640E	possibly damaging	Het
Erap1	T	A	13: 74,814,241 (GRCm39)	C8*	probably null	Het
Fat3	A	G	9: 15,907,233 (GRCm39)	V2923A	probably benign	Het
Fat4	A	T	3: 38,945,459 (GRCm39)	I1451F	probably damaging	Het
Fcsk	A	T	8: 111,621,455 (GRCm39)	I163N	probably damaging	Het
Fzd6	G	A	15: 38,894,722 (GRCm39)	G296D	probably damaging	Het
Gm3486	T	A	14: 41,206,492 (GRCm39)	M194L	probably benign	Het
Gm5592	C	T	7: 40,937,837 (GRCm39)	A373V	probably damaging	Het
Hectd3	T	A	4: 116,853,652 (GRCm39)		probably null	Het
Hira	T	A	16: 18,751,764 (GRCm39)	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,830,348 (GRCm39)	L141S	possibly damaging	Het
Ikzf4	G	A	10: 128,470,401 (GRCm39)	P373L	probably benign	Het
Kcng1	T	C	2: 168,110,609 (GRCm39)	E185G	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,074,188 (GRCm39)	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,528,914 (GRCm39)	Y281H	probably damaging	Het
Mta2	C	A	19: 8,925,088 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,782,386 (GRCm39)	I372T	possibly damaging	Het
Myocd	T	A	11: 65,091,714 (GRCm39)	N76I	probably benign	Het
Nav2	T	A	7: 49,197,922 (GRCm39)	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,652,972 (GRCm39)	C1127S	probably damaging	Het
Pcdhb8	A	G	18: 37,488,891 (GRCm39)	K190E	probably damaging	Het
Pcnx1	A	G	12: 82,037,478 (GRCm39)	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,150,867 (GRCm39)	Y272N	probably damaging	Het
Phldb3	T	C	7: 24,318,660 (GRCm39)	V313A	probably benign	Het
Plch2	C	T	4: 155,091,451 (GRCm39)	V116I	possibly damaging	Het
Plod2	G	A	9: 92,466,657 (GRCm39)		probably null	Het
Ppfibp2	T	C	7: 107,339,796 (GRCm39)	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,604,912 (GRCm39)	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,642,438 (GRCm39)	E787G	probably damaging	Het
Rabep2	T	A	7: 126,043,444 (GRCm39)	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,387,762 (GRCm39)		probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf125	A	G	18: 21,110,873 (GRCm39)	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046 (GRCm39)	A1384S	probably benign	Het
Selp	T	A	1: 163,969,009 (GRCm39)	C536*	probably null	Het
Serpinb3c	G	A	1: 107,199,504 (GRCm39)	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,273,617 (GRCm39)	R986C	probably damaging	Het
Slc8b1	T	C	5: 120,659,180 (GRCm39)	I208T	probably benign	Het
Sp3	G	A	2: 72,776,999 (GRCm39)	H533Y	probably damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tiam2	A	G	17: 3,568,698 (GRCm39)	R1615G	probably damaging	Het
Tie1	T	C	4: 118,333,460 (GRCm39)	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,061,842 (GRCm39)	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,261,802 (GRCm39)	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,466,972 (GRCm39)	T21A	probably benign	Het
Zfp108	C	A	7: 23,957,964 (GRCm39)	H34Q	possibly damaging	Het
Zfp267	T	A	3: 36,218,620 (GRCm39)	F214L	probably benign	Het
Zfp456	C	T	13: 67,514,674 (GRCm39)	S344N	probably benign	Het
Zscan22	T	C	7: 12,640,907 (GRCm39)	C384R	probably 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
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'- AACccctccctccctcc -3'

Posted On

2014-05-23