Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Idua'

229873

Institutional Source

Beutler Lab

Gene Symbol

Idua

Ensembl Gene

ENSMUSG00000033540

Gene Name

iduronidase, alpha-L

Synonyms

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108808197-108832423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108829304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 368 (H368Q)

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

possibly damaging
Transcript: ENSMUST00000071650
AA Change: H415Q

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: H415Q

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

possibly damaging
Transcript: ENSMUST00000112563
AA Change: H415Q

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: H415Q

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

possibly damaging
Transcript: ENSMUST00000119212
AA Change: H368Q

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: H368Q

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Cfap91	T	C	16: 38,162,124 (GRCm39)	T6A	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
Smtn	T	A	11: 3,480,045 (GRCm39)	H392L	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	probably benign	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
R2024:Idua	UTSW	5	108,828,600 (GRCm39)	missense	probably damaging	1.00
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'- GGCTGAACAGTATAACAGACTCC -3'
(R):5'- AACCAGACACCATGGTTTGC -3'

Sequencing Primer
(F):5'- CTCCCAGTATACAAATGGTGGG -3'
(R):5'- ACTACAGCTGGGTTCCCAC -3'

Posted On

2014-09-17