Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

93084424-93088084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93087307 bp (GRCm39)

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]

AlphaFold

Q9JKQ4

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: 34,340,729 (GRCm39)	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,223,854 (GRCm39)	V117I	probably benign	Het
Cdkl2	A	T	5: 92,185,130 (GRCm39)	I87N	probably damaging	Het
Cfap57	T	A	4: 118,438,302 (GRCm39)	E863V	probably damaging	Het
Clca3a2	G	A	3: 144,790,701 (GRCm39)	S457L	possibly damaging	Het
Crim1	C	T	17: 78,658,227 (GRCm39)	T702I	probably damaging	Het
Cysltr1	C	A	X: 105,621,728 (GRCm39)	V253L	probably damaging	Het
Dgcr6	G	A	16: 17,883,038 (GRCm39)	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,226,362 (GRCm39)		probably null	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dspp	A	G	5: 104,323,514 (GRCm39)	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,795,914 (GRCm39)		probably benign	Het
Erc2	T	A	14: 27,375,028 (GRCm39)	L82Q	probably damaging	Het
Ercc6l	T	C	X: 101,188,275 (GRCm39)	T745A	probably benign	Het
Gata4	T	C	14: 63,437,910 (GRCm39)	T414A	probably benign	Het
Gmps	A	G	3: 63,921,773 (GRCm39)	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868 (GRCm39)	Y873H	probably damaging	Het
Gsr	T	C	8: 34,175,569 (GRCm39)		probably benign	Het
Gtf2h1	T	C	7: 46,454,417 (GRCm39)	L133P	probably damaging	Het
Ifna5	A	C	4: 88,754,327 (GRCm39)	E189A	probably benign	Het
Kcnk3	A	G	5: 30,779,727 (GRCm39)	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,282,299 (GRCm39)		probably benign	Het
Kif19a	A	G	11: 114,679,979 (GRCm39)	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,693,121 (GRCm39)	T609S	probably benign	Het
Krt78	C	A	15: 101,856,853 (GRCm39)		probably benign	Het
Lca5	A	T	9: 83,305,170 (GRCm39)	I212N	probably damaging	Het
Lgr6	T	C	1: 134,929,429 (GRCm39)		probably benign	Het
Madd	T	G	2: 91,008,381 (GRCm39)	T174P	probably damaging	Het
Mcm9	A	G	10: 53,502,033 (GRCm39)	I184T	probably damaging	Het
Mlycd	G	A	8: 120,137,073 (GRCm39)	R431H	probably damaging	Het
Myh10	G	A	11: 68,692,994 (GRCm39)	A1393T	probably benign	Het
Myof	G	T	19: 37,926,361 (GRCm39)	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,455,063 (GRCm39)	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,342,548 (GRCm39)	T366S	probably benign	Het
Nnat	T	C	2: 157,403,167 (GRCm39)	F36S	possibly damaging	Het
Nsd3	C	A	8: 26,181,143 (GRCm39)	P915T	probably damaging	Het
Or10ak12	C	T	4: 118,666,696 (GRCm39)	V122M	probably benign	Het
Or10k2	A	C	8: 84,268,015 (GRCm39)	M81L	possibly damaging	Het
Or1n1	A	T	2: 36,749,830 (GRCm39)	C177S	probably damaging	Het
Or2g25	A	G	17: 37,970,363 (GRCm39)	L287P	probably damaging	Het
Or4l1	G	A	14: 50,166,164 (GRCm39)	T279I	probably damaging	Het
Pkd1l3	A	G	8: 110,341,414 (GRCm39)	N89S	unknown	Het
Pkd2	T	C	5: 104,634,636 (GRCm39)	F556L	probably damaging	Het
Psen2	T	A	1: 180,062,626 (GRCm39)	M239L	probably damaging	Het
Rad50	A	G	11: 53,570,876 (GRCm39)	I794T	probably benign	Het
Ralgps1	G	A	2: 33,230,741 (GRCm39)	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,843,629 (GRCm39)	P250S	probably damaging	Het
Skic8	T	C	9: 54,635,545 (GRCm39)	I19V	probably damaging	Het
Slc47a2	A	G	11: 61,227,067 (GRCm39)	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,432,112 (GRCm39)	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,651,611 (GRCm39)	E308D	probably benign	Het
Zfhx4	G	A	3: 5,476,903 (GRCm39)	E3148K	probably damaging	Het

Other mutations in Irx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Irx5	APN	8	93,087,331 (GRCm39)	missense	probably damaging	1.00
IGL01870:Irx5	APN	8	93,086,405 (GRCm39)	missense	probably damaging	1.00
IGL01985:Irx5	APN	8	93,086,155 (GRCm39)	splice site	probably benign
IGL02597:Irx5	APN	8	93,087,400 (GRCm39)	missense	possibly damaging	0.93
IGL03257:Irx5	APN	8	93,087,258 (GRCm39)	missense	probably benign	0.00
R0784:Irx5	UTSW	8	93,087,118 (GRCm39)	missense	probably benign
R1498:Irx5	UTSW	8	93,086,514 (GRCm39)	missense	probably damaging	1.00
R1762:Irx5	UTSW	8	93,086,272 (GRCm39)	missense	probably damaging	1.00
R1783:Irx5	UTSW	8	93,086,316 (GRCm39)	missense	probably damaging	1.00
R1951:Irx5	UTSW	8	93,086,438 (GRCm39)	missense	probably damaging	1.00
R1953:Irx5	UTSW	8	93,086,438 (GRCm39)	missense	probably damaging	1.00
R2019:Irx5	UTSW	8	93,084,992 (GRCm39)	missense	probably damaging	1.00
R3875:Irx5	UTSW	8	93,086,793 (GRCm39)	missense	probably benign	0.00
R3942:Irx5	UTSW	8	93,086,314 (GRCm39)	missense	probably damaging	0.98
R4361:Irx5	UTSW	8	93,085,025 (GRCm39)	missense	probably damaging	0.99
R4574:Irx5	UTSW	8	93,084,890 (GRCm39)	missense	probably damaging	0.99
R4994:Irx5	UTSW	8	93,087,409 (GRCm39)	missense	probably damaging	1.00
R5579:Irx5	UTSW	8	93,086,541 (GRCm39)	missense	probably benign	0.01
R5884:Irx5	UTSW	8	93,087,258 (GRCm39)	missense	possibly damaging	0.95
R5988:Irx5	UTSW	8	93,087,299 (GRCm39)	nonsense	probably null
R6017:Irx5	UTSW	8	93,084,878 (GRCm39)	missense	probably damaging	1.00
R6339:Irx5	UTSW	8	93,086,481 (GRCm39)	missense	probably damaging	0.99
R6466:Irx5	UTSW	8	93,086,354 (GRCm39)	missense	probably damaging	1.00
R6595:Irx5	UTSW	8	93,086,247 (GRCm39)	missense	probably damaging	1.00
R7344:Irx5	UTSW	8	93,086,183 (GRCm39)	missense	probably benign	0.24
R8166:Irx5	UTSW	8	93,086,712 (GRCm39)	splice site	probably null
R8215:Irx5	UTSW	8	93,086,241 (GRCm39)	missense	possibly damaging	0.77
R8396:Irx5	UTSW	8	93,086,962 (GRCm39)	missense	probably benign	0.12
R8695:Irx5	UTSW	8	93,087,327 (GRCm39)	missense	probably damaging	1.00
R8991:Irx5	UTSW	8	93,087,135 (GRCm39)	nonsense	probably null
R9412:Irx5	UTSW	8	93,086,351 (GRCm39)	missense	probably damaging	1.00
R9522:Irx5	UTSW	8	93,087,259 (GRCm39)	missense	possibly damaging	0.84
R9708:Irx5	UTSW	8	93,087,118 (GRCm39)	missense	probably benign	0.25

Posted On

2015-04-16