Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Idua'

372894

Institutional Source

Beutler Lab

Gene Symbol

Idua

Ensembl Gene

ENSMUSG00000033540

Gene Name

iduronidase, alpha-L

Synonyms

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

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

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108808197-108832423 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108817247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 7 (S7P)

Ref Sequence

ENSEMBL: ENSMUSP00000119624 (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 benign
Transcript: ENSMUST00000071650
AA Change: S7P

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

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540
AA Change: S7P

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: S7P

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

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540
AA Change: S7P

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: S7P

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

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540
AA Change: S7P

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 benign
Transcript: ENSMUST00000139734
AA Change: S7P

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

SMART Domains

Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540
AA Change: S7P

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
AA Change: S7P

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

SMART Domains

Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540
AA Change: S7P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151445

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		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
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
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'- ATAATGGCCGCTCTGAGACAC -3'
(R):5'- CGCTCCTGGACTTGATAAGTGG -3'

Sequencing Primer
(F):5'- CCAAGCACTGCTAATGTTGG -3'
(R):5'- ACTTGATAAGTGGTGGGCCTCAC -3'

Posted On

2016-03-01