Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Idua'

730524

Institutional Source

Beutler Lab

Gene Symbol

Idua

Ensembl Gene

ENSMUSG00000033540

Gene Name

iduronidase, alpha-L-

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108660331-108684557 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108670171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 70 (Q70*)

Ref Sequence

ENSEMBL: ENSMUSP00000071577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051757] [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000119270] [ENSMUST00000132708] [ENSMUST00000136227] [ENSMUST00000139734] [ENSMUST00000140620] [ENSMUST00000163328]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051757

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000071650
AA Change: Q70*

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: Q70*

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 null
Transcript: ENSMUST00000112563
AA Change: Q70*

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: Q70*

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

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540

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

probably benign
Transcript: ENSMUST00000119270

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	85	498	7.3e-135	PFAM
Pfam:STAS	552	702	1.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132708

SMART Domains

Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
Blast:C1	26	56	2e-13	BLAST
low complexity region	68	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136227

SMART Domains

Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	3.4e-31	PFAM
Pfam:Sulfate_transp	200	416	2.2e-62	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000139734
AA Change: Q70*

SMART Domains

Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540
AA Change: Q70*

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 null
Transcript: ENSMUST00000140620
AA Change: Q70*

SMART Domains

Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540
AA Change: Q70*

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	150	3.4e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163328

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	Het

Other mutations in Idua

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Idua	APN	5	108680871	missense	probably benign	0.34
IGL01575:Idua	APN	5	108682107	missense	possibly damaging	0.71
IGL02402:Idua	APN	5	108679791	missense	probably damaging	1.00
IGL03145:Idua	APN	5	108681496	missense	probably benign
Cooper	UTSW	5	108680314	missense	probably damaging	1.00
R0208:Idua	UTSW	5	108681752	missense	probably damaging	1.00
R1572:Idua	UTSW	5	108680589	missense	probably benign
R1731:Idua	UTSW	5	108681672	missense	probably benign	0.00
R2024:Idua	UTSW	5	108680734	missense	probably damaging	1.00
R2126:Idua	UTSW	5	108681438	missense	possibly damaging	0.93
R3760:Idua	UTSW	5	108670112	unclassified	probably benign
R4747:Idua	UTSW	5	108681036	missense	probably damaging	0.97
R4832:Idua	UTSW	5	108669381	missense	probably benign
R5140:Idua	UTSW	5	108680314	missense	probably damaging	1.00
R5543:Idua	UTSW	5	108670229	missense	probably benign	0.22
R5643:Idua	UTSW	5	108680224	utr 3 prime	probably benign
R5821:Idua	UTSW	5	108679734	missense	probably benign	0.29
R6004:Idua	UTSW	5	108680644	missense	probably benign
R6330:Idua	UTSW	5	108681708	missense	probably benign	0.21
R6963:Idua	UTSW	5	108679775	missense	possibly damaging	0.84
R7180:Idua	UTSW	5	108680895	missense	probably benign	0.43
R7453:Idua	UTSW	5	108681496	missense	probably benign
R7575:Idua	UTSW	5	108681699	missense	probably damaging	1.00
R7712:Idua	UTSW	5	108681522	missense	probably benign	0.10
R7923:Idua	UTSW	5	108680583	missense	probably damaging	1.00
R7980:Idua	UTSW	5	108680620	missense	probably benign	0.00
R8026:Idua	UTSW	5	108670249	missense	probably benign	0.01
R8029:Idua	UTSW	5	108669412	missense	probably benign	0.23
R8074:Idua	UTSW	5	108680575	missense	possibly damaging	0.65
R8089:Idua	UTSW	5	108681780	missense	probably damaging	1.00
R8384:Idua	UTSW	5	108681439	missense	possibly damaging	0.70
R9040:Idua	UTSW	5	108681063	missense	probably damaging	1.00
Z1177:Idua	UTSW	5	108679584	missense	probably null	0.80
Z1177:Idua	UTSW	5	108680623	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGAGACACATAATTCATCCAC -3'
(R):5'- TGCTCTAACAGGAAGCACAGC -3'

Sequencing Primer
(F):5'- TTCATCCACAAGGGTCTAGGCAG -3'
(R):5'- ACAGCCCAGCACTGTGTC -3'

Posted On

2022-10-06