Mutagenetix > Incidental Mutation

Incidental Mutation 'R6978:Irx3'

542568

Institutional Source

Beutler Lab

Gene Symbol

Irx3

Ensembl Gene

ENSMUSG00000031734

Gene Name

Iroquois related homeobox 3

Synonyms

MMRRC Submission

045086-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92525139-92528282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92527356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 116 (P116Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093312] [ENSMUST00000175795]

AlphaFold

P81067

Predicted Effect

probably damaging
Transcript: ENSMUST00000093312
AA Change: P116Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091002
Gene: ENSMUSG00000031734
AA Change: P116Q

Domain	Start	End	E-Value	Type
low complexity region	19	52	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
HOX	131	195	3.47e-12	SMART
coiled coil region	210	244	N/A	INTRINSIC
low complexity region	294	300	N/A	INTRINSIC
IRO	345	362	2.66e-6	SMART
low complexity region	365	384	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
low complexity region	436	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175795
AA Change: P116Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135488
Gene: ENSMUSG00000031734
AA Change: P116Q

Domain	Start	End	E-Value	Type
low complexity region	19	52	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
HOX	131	195	3.47e-12	SMART
coiled coil region	210	244	N/A	INTRINSIC
low complexity region	294	300	N/A	INTRINSIC
IRO	345	362	2.66e-6	SMART
low complexity region	365	384	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
low complexity region	436	461	N/A	INTRINSIC
low complexity region	495	507	N/A	INTRINSIC

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for a null allele display right bundle branch block, decreased body weight, increased energy expenditure, reduced adiposity and decreased susceptibility to diet induced obesity. [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
Adprh	C	T	16: 38,266,171 (GRCm39)	G324S	probably damaging	Het
Amfr	T	C	8: 94,727,015 (GRCm39)	E140G	probably damaging	Het
Anapc1	G	T	2: 128,511,820 (GRCm39)	Q458K	probably benign	Het
Ap1g1	T	C	8: 110,554,968 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,857,682 (GRCm39)	V211F	probably benign	Het
Baz2b	T	C	2: 59,738,059 (GRCm39)	E1750G	possibly damaging	Het
Cmpk2	A	T	12: 26,527,018 (GRCm39)	T336S	probably damaging	Het
Col6a3	C	T	1: 90,735,192 (GRCm39)		probably null	Het
Cyp2c29	T	C	19: 39,310,107 (GRCm39)	L272P	probably damaging	Het
Cyp3a13	A	T	5: 137,903,801 (GRCm39)	S286T	probably benign	Het
Cyp4f18	T	G	8: 72,756,340 (GRCm39)	S79R	probably benign	Het
Dio1	T	C	4: 107,164,030 (GRCm39)	T96A	probably benign	Het
Dnah7a	T	C	1: 53,701,526 (GRCm39)	I210V	probably null	Het
Epha4	A	G	1: 77,354,220 (GRCm39)	Y841H	probably damaging	Het
Gm12695	T	C	4: 96,657,959 (GRCm39)	D70G	possibly damaging	Het
Gtf3c1	G	T	7: 125,244,706 (GRCm39)	T1680K	possibly damaging	Het
Hnrnpul2	T	C	19: 8,801,640 (GRCm39)	V314A	probably damaging	Het
Lrp4	C	T	2: 91,322,343 (GRCm39)	R1060C	probably damaging	Het
Mark3	G	A	12: 111,593,582 (GRCm39)	V205I	probably benign	Het
Mchr1	T	C	15: 81,121,997 (GRCm39)	L249P	possibly damaging	Het
Med26	T	C	8: 73,250,427 (GRCm39)	N224S	possibly damaging	Het
Megf9	C	T	4: 70,351,766 (GRCm39)	V452I	probably benign	Het
Mki67	T	C	7: 135,303,691 (GRCm39)	R726G	probably benign	Het
Mst1r	T	A	9: 107,789,793 (GRCm39)	L583Q	probably benign	Het
Mybpc1	A	G	10: 88,358,886 (GRCm39)	C1102R	probably damaging	Het
Nr6a1	T	C	2: 38,762,631 (GRCm39)	T55A	probably benign	Het
Nup210l	G	A	3: 90,061,873 (GRCm39)	R684Q	possibly damaging	Het
Or13a24	A	C	7: 140,154,200 (GRCm39)	I45L	probably damaging	Het
Or4f7	T	A	2: 111,644,155 (GRCm39)	L305F	probably benign	Het
Or6x1	C	T	9: 40,099,085 (GRCm39)	R225W	probably damaging	Het
Pgbd1	A	G	13: 21,607,432 (GRCm39)	L254P	probably damaging	Het
Pou6f2	A	G	13: 18,347,063 (GRCm39)	F10L	probably damaging	Het
Ppfia3	T	A	7: 44,996,272 (GRCm39)	T726S	probably benign	Het
Rab21	T	A	10: 115,134,766 (GRCm39)	M118L	possibly damaging	Het
Rbm6	T	C	9: 107,729,774 (GRCm39)		probably null	Het
Rmc1	T	C	18: 12,318,804 (GRCm39)	Y430H	probably benign	Het
Rpp38	A	G	2: 3,330,758 (GRCm39)	L48P	probably damaging	Het
Sart3	A	T	5: 113,883,807 (GRCm39)	I735N	probably damaging	Het
Slc44a1	T	A	4: 53,544,671 (GRCm39)	Y461N	probably damaging	Het
Smok2b	A	T	17: 13,455,295 (GRCm39)	*485L	probably null	Het
Speer4a2	C	A	5: 26,291,454 (GRCm39)	E117D	probably damaging	Het
Spink8	T	C	9: 109,649,725 (GRCm39)	V69A	probably benign	Het
Spred2	G	A	11: 19,948,254 (GRCm39)	R83Q	possibly damaging	Het
Tmc1	T	C	19: 20,781,999 (GRCm39)	N573S	probably damaging	Het
Tmem275	C	T	4: 115,755,560 (GRCm39)	Q120*	probably null	Het
Tox4	G	T	14: 52,524,694 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,839,259 (GRCm39)	S531G	probably benign	Het
Vmn2r56	C	T	7: 12,449,333 (GRCm39)	V302I	probably benign	Het
Ypel1	C	T	16: 16,902,438 (GRCm39)	A110V	probably benign	Het
Zfp395	G	A	14: 65,623,882 (GRCm39)	R117H	probably benign	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		probably benign	Het

Other mutations in Irx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0058:Irx3	UTSW	8	92,527,168 (GRCm39)	missense	possibly damaging	0.88
R0080:Irx3	UTSW	8	92,526,954 (GRCm39)	missense	possibly damaging	0.94
R0402:Irx3	UTSW	8	92,527,296 (GRCm39)	missense	possibly damaging	0.77
R0418:Irx3	UTSW	8	92,526,708 (GRCm39)	missense	probably benign	0.00
R0609:Irx3	UTSW	8	92,527,721 (GRCm39)	missense	probably benign	0.18
R0709:Irx3	UTSW	8	92,526,048 (GRCm39)	missense	possibly damaging	0.94
R1753:Irx3	UTSW	8	92,527,362 (GRCm39)	missense	probably damaging	0.98
R3406:Irx3	UTSW	8	92,525,555 (GRCm39)	missense	unknown
R5472:Irx3	UTSW	8	92,526,108 (GRCm39)	splice site	probably null
R5790:Irx3	UTSW	8	92,526,304 (GRCm39)	missense	probably benign
R5896:Irx3	UTSW	8	92,527,763 (GRCm39)	missense	probably benign
R6611:Irx3	UTSW	8	92,526,631 (GRCm39)	missense	probably damaging	0.97
R6776:Irx3	UTSW	8	92,526,463 (GRCm39)	missense	probably benign	0.00
R6861:Irx3	UTSW	8	92,525,530 (GRCm39)	utr 3 prime	probably benign
R7472:Irx3	UTSW	8	92,526,625 (GRCm39)	missense	probably benign	0.25
R8304:Irx3	UTSW	8	92,526,834 (GRCm39)	missense	probably damaging	1.00
R8412:Irx3	UTSW	8	92,527,028 (GRCm39)	missense	possibly damaging	0.92
R8906:Irx3	UTSW	8	92,526,915 (GRCm39)	missense	possibly damaging	0.94
R9157:Irx3	UTSW	8	92,527,694 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTGGTGATGATGGCCAAC -3'
(R):5'- TCTTCCCACAGCTGGTAAGAG -3'

Sequencing Primer
(F):5'- ATGATGGCCAACATGATCTTCTCG -3'
(R):5'- TGGTAAGAGCCAGAGAAACCC -3'

Posted On

2018-11-28