Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02481:Irx5'

295200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irx5

Ensembl Gene

ENSMUSG00000031737

Gene Name

Iroquois homeobox 5

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

92357625-92376286 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92360679 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 413 (Y413C)

Ref Sequence

ENSEMBL: ENSMUSP00000147339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034184] [ENSMUST00000210246]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000034183

Predicted Effect

probably damaging
Transcript: ENSMUST00000034184
AA Change: Y413C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: Y413C

Domain	Start	End	E-Value	Type
HOX	112	177	1.14e-12	SMART
low complexity region	185	202	N/A	INTRINSIC
low complexity region	245	257	N/A	INTRINSIC
low complexity region	307	327	N/A	INTRINSIC
IRO	328	345	2.28e-5	SMART
low complexity region	351	369	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC
low complexity region	417	439	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180102

Predicted Effect

probably damaging
Transcript: ENSMUST00000210246
AA Change: Y413C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,363,794	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,574,646	V117I	probably benign	Het
Cdkl2	A	T	5: 92,037,271	I87N	probably damaging	Het
Cfap57	T	A	4: 118,581,105	E863V	probably damaging	Het
Clca2	G	A	3: 145,084,940	S457L	possibly damaging	Het
Crim1	C	T	17: 78,350,798	T702I	probably damaging	Het
Cysltr1	C	A	X: 106,578,122	V253L	probably damaging	Het
Dgcr6	G	A	16: 18,065,174	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,319,080		probably null	Het
Dnm3	A	G	1: 162,010,902	S826P	probably damaging	Het
Dspp	A	G	5: 104,175,648	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,975,551		probably benign	Het
Erc2	T	A	14: 27,653,071	L82Q	probably damaging	Het
Ercc6l	T	C	X: 102,144,669	T745A	probably benign	Het
Gata4	T	C	14: 63,200,461	T414A	probably benign	Het
Gmps	A	G	3: 64,014,352	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868	Y873H	probably damaging	Het
Gsr	T	C	8: 33,685,541		probably benign	Het
Gtf2h1	T	C	7: 46,804,993	L133P	probably damaging	Het
Ifna5	A	C	4: 88,836,090	E189A	probably benign	Het
Kcnk3	A	G	5: 30,622,383	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,354,561		probably benign	Het
Kif19a	A	G	11: 114,789,153	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Krt78	C	A	15: 101,948,418		probably benign	Het
Lca5	A	T	9: 83,423,117	I212N	probably damaging	Het
Lgr6	T	C	1: 135,001,691		probably benign	Het
Madd	T	G	2: 91,178,036	T174P	probably damaging	Het
Mcm9	A	G	10: 53,625,937	I184T	probably damaging	Het
Mlycd	G	A	8: 119,410,334	R431H	probably damaging	Het
Myh10	G	A	11: 68,802,168	A1393T	probably benign	Het
Myof	G	T	19: 37,937,913	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,625,995	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,194,734	T366S	probably benign	Het
Nnat	T	C	2: 157,561,247	F36S	possibly damaging	Het
Nsd3	C	A	8: 25,691,116	P915T	probably damaging	Het
Olfr117	A	G	17: 37,659,472	L287P	probably damaging	Het
Olfr1335	C	T	4: 118,809,499	V122M	probably benign	Het
Olfr351	A	T	2: 36,859,818	C177S	probably damaging	Het
Olfr370	A	C	8: 83,541,386	M81L	possibly damaging	Het
Olfr723	G	A	14: 49,928,707	T279I	probably damaging	Het
Pkd1l3	A	G	8: 109,614,782	N89S	unknown	Het
Pkd2	T	C	5: 104,486,770	F556L	probably damaging	Het
Psen2	T	A	1: 180,235,061	M239L	probably damaging	Het
Rad50	A	G	11: 53,680,049	I794T	probably benign	Het
Ralgps1	G	A	2: 33,340,729	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,915,907	P250S	probably damaging	Het
Slc47a2	A	G	11: 61,336,241	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,283,993	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,414,154	E308D	probably benign	Het
Wdr61	T	C	9: 54,728,261	I19V	probably damaging	Het
Zfhx4	G	A	3: 5,411,843	E3148K	probably damaging	Het

Other mutations in Irx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Irx5	APN	8	92360703	missense	probably damaging	1.00
IGL01870:Irx5	APN	8	92359777	missense	probably damaging	1.00
IGL01985:Irx5	APN	8	92359527	splice site	probably benign
IGL02597:Irx5	APN	8	92360772	missense	possibly damaging	0.93
IGL03257:Irx5	APN	8	92360630	missense	probably benign	0.00
R0784:Irx5	UTSW	8	92360490	missense	probably benign
R1498:Irx5	UTSW	8	92359886	missense	probably damaging	1.00
R1762:Irx5	UTSW	8	92359644	missense	probably damaging	1.00
R1783:Irx5	UTSW	8	92359688	missense	probably damaging	1.00
R1951:Irx5	UTSW	8	92359810	missense	probably damaging	1.00
R1953:Irx5	UTSW	8	92359810	missense	probably damaging	1.00
R2019:Irx5	UTSW	8	92358364	missense	probably damaging	1.00
R3875:Irx5	UTSW	8	92360165	missense	probably benign	0.00
R3942:Irx5	UTSW	8	92359686	missense	probably damaging	0.98
R4361:Irx5	UTSW	8	92358397	missense	probably damaging	0.99
R4574:Irx5	UTSW	8	92358262	missense	probably damaging	0.99
R4994:Irx5	UTSW	8	92360781	missense	probably damaging	1.00
R5579:Irx5	UTSW	8	92359913	missense	probably benign	0.01
R5884:Irx5	UTSW	8	92360630	missense	possibly damaging	0.95
R5988:Irx5	UTSW	8	92360671	nonsense	probably null
R6017:Irx5	UTSW	8	92358250	missense	probably damaging	1.00
R6339:Irx5	UTSW	8	92359853	missense	probably damaging	0.99
R6466:Irx5	UTSW	8	92359726	missense	probably damaging	1.00
R6595:Irx5	UTSW	8	92359619	missense	probably damaging	1.00
R7344:Irx5	UTSW	8	92359555	missense	probably benign	0.24
R8166:Irx5	UTSW	8	92360084	splice site	probably null
R8215:Irx5	UTSW	8	92359613	missense	possibly damaging	0.77
R8396:Irx5	UTSW	8	92360334	missense	probably benign	0.12

Posted On

2015-04-16