Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02308:Irx6'

287696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irx6

Ensembl Gene

ENSMUSG00000031738

Gene Name

Iroquois homeobox 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02308

Quality Score

Status

Chromosome

Chromosomal Location

92674288-92680956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92677031 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 128 (L128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034185] [ENSMUST00000167261]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034185
AA Change: L128Q

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

SMART Domains

Protein: ENSMUSP00000034185
Gene: ENSMUSG00000031738
AA Change: L128Q

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
HOX	143	208	1.76e-13	SMART
coiled coil region	247	280	N/A	INTRINSIC
IRO	338	355	9e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167261
AA Change: L128Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127446
Gene: ENSMUSG00000031738
AA Change: L128Q

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
HOX	143	208	1.76e-13	SMART
coiled coil region	247	280	N/A	INTRINSIC
IRO	338	355	9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210252

Meta Mutation Damage Score

0.4225

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display abnormalities in retinal bipolar cell subtype identity and reduced electroretinography a and b wave amplitudes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,202,482	S8F	probably damaging	Het
Alpk1	T	A	3: 127,729,282	Q37L	probably damaging	Het
Cfap43	T	C	19: 47,748,024	T1343A	probably benign	Het
Cmbl	C	A	15: 31,585,408	P146Q	possibly damaging	Het
Cog2	A	T	8: 124,533,212		probably null	Het
Dgkh	C	A	14: 78,587,576	V880L	probably benign	Het
Dopey1	T	C	9: 86,520,088	S1114P	probably damaging	Het
Eif5b	T	A	1: 38,041,747	V723D	probably damaging	Het
Gdf11	A	G	10: 128,885,384	Y314H	probably damaging	Het
Gm10110	T	C	14: 89,897,595		noncoding transcript	Het
Gm960	T	C	19: 4,663,555	K132E	probably damaging	Het
Gria1	G	A	11: 57,236,924	V320I	probably benign	Het
H2-Q10	T	A	17: 35,473,566	*326R	probably null	Het
Kif21b	T	A	1: 136,159,757	L937Q	probably damaging	Het
Lama5	A	G	2: 180,190,327		probably benign	Het
Mios	A	G	6: 8,231,269	I718V	probably benign	Het
Mroh8	A	G	2: 157,254,973	V318A	probably damaging	Het
Nags	A	G	11: 102,149,071	*528W	probably null	Het
Nom1	T	A	5: 29,437,710	V403D	probably damaging	Het
Npffr2	C	A	5: 89,583,451	N413K	probably benign	Het
Olfr394	A	T	11: 73,888,295	Y26N	probably benign	Het
Olfr671	T	A	7: 104,975,458	I176F	possibly damaging	Het
Olr1	C	T	6: 129,499,897	R135K	possibly damaging	Het
Pkhd1	A	G	1: 20,070,376		probably null	Het
Ptpro	A	G	6: 137,454,700	M1158V	probably benign	Het
Sh3d19	A	G	3: 86,093,710	K238E	probably damaging	Het
Smarcc2	G	T	10: 128,482,772	R641L	probably damaging	Het
Th	T	C	7: 142,898,057	E75G	possibly damaging	Het
Tlr1	A	T	5: 64,925,947	L429*	probably null	Het
Ttn	G	A	2: 76,894,361	R2107*	probably null	Het
Ubr2	A	T	17: 46,934,193	C1636S	probably damaging	Het
Vmn2r100	T	A	17: 19,521,335	I103K	possibly damaging	Het
Vmn2r88	A	G	14: 51,417,980	M558V	possibly damaging	Het
Zzef1	G	A	11: 72,886,747	M1801I	probably benign	Het

Other mutations in Irx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Irx6	APN	8	92676089	nonsense	probably null
R0308:Irx6	UTSW	8	92677031	missense	probably damaging	1.00
R1191:Irx6	UTSW	8	92676952	missense	probably damaging	1.00
R1251:Irx6	UTSW	8	92678253	missense	possibly damaging	0.87
R4161:Irx6	UTSW	8	92676291	missense	possibly damaging	0.78
R4368:Irx6	UTSW	8	92678401	missense	probably damaging	1.00
R4924:Irx6	UTSW	8	92678353	missense	probably benign	0.25
R4950:Irx6	UTSW	8	92678800	missense	probably damaging	1.00
R5425:Irx6	UTSW	8	92677517	critical splice donor site	probably null
R6455:Irx6	UTSW	8	92676072	missense	probably benign	0.04
R6969:Irx6	UTSW	8	92677330	missense	probably damaging	1.00
R7019:Irx6	UTSW	8	92678734	missense	probably damaging	0.99
R7128:Irx6	UTSW	8	92677366	missense	probably damaging	1.00
R7133:Irx6	UTSW	8	92678413	missense	probably damaging	1.00
R8182:Irx6	UTSW	8	92677014	nonsense	probably null
R8546:Irx6	UTSW	8	92678636	missense	probably benign	0.19
R8955:Irx6	UTSW	8	92678412	missense	probably damaging	1.00
Z1176:Irx6	UTSW	8	92678371	missense	possibly damaging	0.91

Posted On

2015-04-16