Mutagenetix > Incidental Mutation

Incidental Mutation 'R0932:Irx2'

80992

Institutional Source

Beutler Lab

Gene Symbol

Irx2

Ensembl Gene

ENSMUSG00000001504

Gene Name

Iroquois homeobox 2

Synonyms

IRX6

MMRRC Submission

039076-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R0932 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72776939-72782317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72779675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 320 (S320T)

Ref Sequence

ENSEMBL: ENSMUSP00000073976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074372] [ENSMUST00000167067] [ENSMUST00000172353]

AlphaFold

P81066

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074372
AA Change: S320T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073976
Gene: ENSMUSG00000001504
AA Change: S320T

Domain	Start	End	E-Value	Type
low complexity region	51	64	N/A	INTRINSIC
low complexity region	70	78	N/A	INTRINSIC
HOX	115	180	1.14e-12	SMART
low complexity region	188	196	N/A	INTRINSIC
low complexity region	256	278	N/A	INTRINSIC
low complexity region	293	305	N/A	INTRINSIC
IRO	325	342	2.28e-5	SMART
low complexity region	346	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163393

Predicted Effect

probably benign
Transcript: ENSMUST00000167067

SMART Domains

Protein: ENSMUSP00000127963
Gene: ENSMUSG00000001504

Domain	Start	End	E-Value	Type
HOX	21	86	1.14e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169028

Predicted Effect

probably benign
Transcript: ENSMUST00000172353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177421

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.2%
20x: 97.1%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for disruptions in this gene are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,995 (GRCm39)	N47S	probably benign	Het
AA986860	T	C	1: 130,665,430 (GRCm39)		probably null	Het
Akap9	T	A	5: 4,096,492 (GRCm39)	C2456S	possibly damaging	Het
Anks3	C	T	16: 4,771,691 (GRCm39)	R111H	probably damaging	Het
Atp1a3	A	T	7: 24,687,401 (GRCm39)		probably null	Het
Bahd1	T	C	2: 118,746,408 (GRCm39)	L9P	probably damaging	Het
Capn12	T	C	7: 28,587,123 (GRCm39)	V364A	possibly damaging	Het
Cds1	T	A	5: 101,944,891 (GRCm39)	C122S	probably damaging	Het
Cenpc1	T	C	5: 86,185,459 (GRCm39)	T351A	possibly damaging	Het
Cuzd1	T	C	7: 130,921,923 (GRCm39)		probably benign	Het
Daxx	T	C	17: 34,129,635 (GRCm39)	L72P	probably damaging	Het
Depdc1b	A	G	13: 108,523,369 (GRCm39)	I415V	probably benign	Het
Dlg2	T	C	7: 92,024,845 (GRCm39)	V675A	probably damaging	Het
Dtx4	A	G	19: 12,469,515 (GRCm39)	V204A	probably benign	Het
Ganc	T	C	2: 120,288,610 (GRCm39)	V872A	probably damaging	Het
Gm14403	A	T	2: 177,198,810 (GRCm39)	R38W	probably benign	Het
Gm4553	T	C	7: 141,719,423 (GRCm39)	S2G	unknown	Het
Gm8159	G	A	14: 4,635,226 (GRCm38)	R148H	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,400 (GRCm39)		probably null	Het
Ibtk	C	T	9: 85,617,099 (GRCm39)	G158R	probably damaging	Het
Kctd7	A	T	5: 130,180,510 (GRCm39)		probably null	Het
Kdr	T	C	5: 76,129,465 (GRCm39)	T141A	probably benign	Het
Krt25	T	A	11: 99,212,109 (GRCm39)	Q176L	possibly damaging	Het
Krt71	T	C	15: 101,645,195 (GRCm39)	N372S	probably benign	Het
Mllt3	A	G	4: 87,707,621 (GRCm39)	V446A	probably damaging	Het
Or1j21	T	A	2: 36,683,903 (GRCm39)	Y218*	probably null	Het
Or4k38	A	T	2: 111,165,543 (GRCm39)	D293E	probably benign	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Or5p52	A	C	7: 107,502,397 (GRCm39)	T158P	possibly damaging	Het
Or9e1	T	C	11: 58,732,540 (GRCm39)	V200A	possibly damaging	Het
Poldip2	T	C	11: 78,403,294 (GRCm39)	S18P	possibly damaging	Het
Ptprd	T	G	4: 76,055,122 (GRCm39)	Q193P	probably damaging	Het
Reck	C	T	4: 43,922,838 (GRCm39)	T371M	possibly damaging	Het
Rnf144b	G	T	13: 47,374,001 (GRCm39)	R66L	probably null	Het
Rpn2	T	A	2: 157,125,691 (GRCm39)	D67E	possibly damaging	Het
Scn11a	A	G	9: 119,636,876 (GRCm39)	F275S	probably damaging	Het
Slc12a5	G	A	2: 164,838,805 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,264,658 (GRCm39)	I253T	probably damaging	Het
Tppp2	C	T	14: 52,157,881 (GRCm39)		probably benign	Het
Usp9y	A	C	Y: 1,315,930 (GRCm39)	N2068K	probably benign	Het
Vmn2r45	A	G	7: 8,478,380 (GRCm39)	C536R	probably damaging	Het

Other mutations in Irx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Irx2	APN	13	72,779,429 (GRCm39)	missense	probably damaging	1.00
R0647:Irx2	UTSW	13	72,778,799 (GRCm39)	missense	probably damaging	1.00
R0783:Irx2	UTSW	13	72,780,769 (GRCm39)	critical splice donor site	probably null
R0931:Irx2	UTSW	13	72,779,675 (GRCm39)	missense	possibly damaging	0.71
R1782:Irx2	UTSW	13	72,779,585 (GRCm39)	missense	probably benign	0.19
R2844:Irx2	UTSW	13	72,779,709 (GRCm39)	missense	probably damaging	1.00
R4656:Irx2	UTSW	13	72,779,417 (GRCm39)	missense	probably damaging	1.00
R4963:Irx2	UTSW	13	72,780,729 (GRCm39)	missense	possibly damaging	0.71
R5219:Irx2	UTSW	13	72,779,420 (GRCm39)	missense	probably damaging	1.00
R5523:Irx2	UTSW	13	72,779,714 (GRCm39)	missense	probably damaging	1.00
R6663:Irx2	UTSW	13	72,777,248 (GRCm39)	missense	probably damaging	1.00
R7311:Irx2	UTSW	13	72,779,396 (GRCm39)	missense	probably damaging	0.98
R7411:Irx2	UTSW	13	72,777,182 (GRCm39)	start codon destroyed	probably null	0.99
R7487:Irx2	UTSW	13	72,778,739 (GRCm39)	missense	probably damaging	1.00
R7506:Irx2	UTSW	13	72,777,328 (GRCm39)	missense	probably damaging	1.00
R7792:Irx2	UTSW	13	72,779,493 (GRCm39)	missense	possibly damaging	0.88
R7953:Irx2	UTSW	13	72,777,343 (GRCm39)	missense	probably benign	0.02
R9083:Irx2	UTSW	13	72,777,392 (GRCm39)	missense	possibly damaging	0.94
Z1177:Irx2	UTSW	13	72,777,208 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCGAATCAGGCTCAGAGTGTAAG -3'
(R):5'- CTGTAGTGGGACTCCAGTGAATGC -3'

Sequencing Primer
(F):5'- CAGGCTCAGAGTGTAAGGACAAG -3'
(R):5'- TATTGTACCGCAGAAGGCCC -3'

Posted On

2013-11-07