Mutagenetix > Incidental Mutations

Incidental Mutation 'R4991:Irx4'

386216

Institutional Source

Beutler Lab

Gene Symbol

Irx4

Ensembl Gene

ENSMUSG00000021604

Gene Name

Iroquois homeobox 4

Synonyms

MMRRC Submission

042585-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73260479-73269608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73265507 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 32 (R32L)

Ref Sequence

ENSEMBL: ENSMUSP00000134738 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022095
AA Change: R32L

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022095
Gene: ENSMUSG00000021604
AA Change: R32L

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 benign
Transcript: ENSMUST00000176684
AA Change: R32L

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134738
Gene: ENSMUSG00000021604
AA Change: R32L

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

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 55,773,465	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148	V369M	probably benign	Het
Als2	T	C	1: 59,207,768	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,084,583	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Ebf2	A	T	14: 67,389,657	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gm13212	C	A	4: 145,622,334	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472		probably benign	Het
Gm29106	T	C	1: 118,178,391	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808	T46A	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lca5l	T	C	16: 96,159,732	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847	S348A	probably benign	Het
Mog	T	C	17: 37,017,489		probably null	Het
Mtmr7	A	G	8: 40,554,345	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287	M157V	probably damaging	Het
Olfr1447	T	G	19: 12,901,451	T110P	probably damaging	Het
Olfr313	T	C	11: 58,817,718	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154		probably null	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618		probably null	Het
Zfp212	G	A	6: 47,926,862	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279		probably null	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
R2092:Irx4	UTSW	13	73265486	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GATTTGAAAAGCTGGCTGGAC -3'
(R):5'- TCACGTAGTTGCCATAGCCC -3'

Sequencing Primer
(F):5'- GCCTAAGCGTGGCCAAAG -3'
(R):5'- TAGTTGCCATAGCCCTGCGAG -3'

Posted On

2016-05-10