Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:Irx4'

231865

Institutional Source

Beutler Lab

Gene Symbol

Irx4

Ensembl Gene

ENSMUSG00000021604

Gene Name

Iroquois homeobox 4

Synonyms

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73260479-73269608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73265486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 25 (T25K)

Ref Sequence

ENSEMBL: ENSMUSP00000134738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022095] [ENSMUST00000176684]

AlphaFold

Q9QY61

Predicted Effect

probably damaging
Transcript: ENSMUST00000022095
AA Change: T25K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: T25K

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
HOX	143	208	5.33e-13	SMART
low complexity region	223	238	N/A	INTRINSIC
low complexity region	252	268	N/A	INTRINSIC
IRO	362	379	6.36e-4	SMART
low complexity region	399	419	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176684
AA Change: T25K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: T25K

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
HOX	143	208	5.33e-13	SMART
low complexity region	223	238	N/A	INTRINSIC
low complexity region	252	268	N/A	INTRINSIC
IRO	362	379	6.36e-4	SMART
low complexity region	399	419	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal ventricular gene expression followed by cardiomyopathy with hypertrophy and impaired contractile function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		probably benign	Het

Other mutations in Irx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Irx4	APN	13	73268691	missense	probably benign
IGL00979:Irx4	APN	13	73268222	splice site	probably benign
IGL01291:Irx4	APN	13	73267667	missense	probably damaging	1.00
IGL02054:Irx4	APN	13	73268828	missense	probably damaging	1.00
IGL02631:Irx4	APN	13	73268477	missense	probably damaging	1.00
IGL02893:Irx4	APN	13	73268778	missense	probably damaging	1.00
IGL03310:Irx4	APN	13	73267731	missense	possibly damaging	0.47
ANU05:Irx4	UTSW	13	73267667	missense	probably damaging	1.00
R0468:Irx4	UTSW	13	73266720	splice site	probably benign
R0502:Irx4	UTSW	13	73266584	splice site	probably null
R0503:Irx4	UTSW	13	73266584	splice site	probably null
R1468:Irx4	UTSW	13	73265576	missense	possibly damaging	0.53
R1468:Irx4	UTSW	13	73265576	missense	possibly damaging	0.53
R1710:Irx4	UTSW	13	73267638	missense	possibly damaging	0.90
R1733:Irx4	UTSW	13	73266705	missense	probably benign	0.00
R2076:Irx4	UTSW	13	73268265	missense	probably damaging	1.00
R2127:Irx4	UTSW	13	73265476	missense	probably benign	0.03
R2199:Irx4	UTSW	13	73265601	missense	probably benign	0.16
R4157:Irx4	UTSW	13	73265543	missense	probably benign	0.00
R4883:Irx4	UTSW	13	73267631	missense	probably damaging	1.00
R4930:Irx4	UTSW	13	73268913	missense	probably benign	0.00
R4990:Irx4	UTSW	13	73265507	missense	probably benign	0.28
R4991:Irx4	UTSW	13	73265507	missense	probably benign	0.28
R5119:Irx4	UTSW	13	73268921	missense	probably benign
R5399:Irx4	UTSW	13	73265539	missense	probably benign	0.01
R5596:Irx4	UTSW	13	73267680	missense	probably damaging	1.00
R5956:Irx4	UTSW	13	73267507	nonsense	probably null
R6271:Irx4	UTSW	13	73266594	critical splice acceptor site	probably null
R6383:Irx4	UTSW	13	73267713	missense	possibly damaging	0.92
R6630:Irx4	UTSW	13	73268426	missense	probably benign	0.00
R6631:Irx4	UTSW	13	73268426	missense	probably benign	0.00
R6632:Irx4	UTSW	13	73268426	missense	probably benign	0.00
R6633:Irx4	UTSW	13	73268426	missense	probably benign	0.00
R7378:Irx4	UTSW	13	73267553	missense	possibly damaging	0.52
R9204:Irx4	UTSW	13	73268530	missense	probably damaging	1.00
R9207:Irx4	UTSW	13	73268530	missense	probably damaging	1.00
R9366:Irx4	UTSW	13	73268906	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTTGAAAAGCTGGCTGGACC -3'
(R):5'- ACGTAGTTGCCATAGCCCTG -3'

Sequencing Primer
(F):5'- AGTGAGGCCTAAGCGTGGC -3'
(R):5'- TGCGAGCTGCCATAGGG -3'

Posted On

2014-09-18