Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73408598-73417727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73413626 bp (GRCm39)

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]

AlphaFold

Q9QY61

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: 56,010,922 (GRCm39)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,404,146 (GRCm39)	V369M	probably benign	Het
Als2	T	C	1: 59,246,927 (GRCm39)	K571E	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Asb14	T	C	14: 26,637,015 (GRCm39)	S586P	probably damaging	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Chmp4b	A	G	2: 154,534,545 (GRCm39)	E187G	probably benign	Het
Cox6b2	T	C	7: 4,755,160 (GRCm39)	D38G	probably damaging	Het
Cpm	G	A	10: 117,504,008 (GRCm39)	C138Y	probably damaging	Het
Csmd3	G	T	15: 47,864,874 (GRCm39)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,061,983 (GRCm39)	N506K	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Ebf2	A	T	14: 67,627,106 (GRCm39)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gm19684	A	G	17: 36,438,364 (GRCm39)		probably benign	Het
Gm29106	T	C	1: 118,106,121 (GRCm39)	M37T	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,096,450 (GRCm39)	E252D	probably damaging	Het
Ifitm3	A	T	7: 140,590,372 (GRCm39)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb1bp1	C	T	12: 21,324,849 (GRCm39)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,130,637 (GRCm39)	D418G	probably benign	Het
Kif1a	T	C	1: 93,006,530 (GRCm39)	T46A	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,932 (GRCm39)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847 (GRCm39)	S348A	probably benign	Het
Mog	T	C	17: 37,328,381 (GRCm39)		probably null	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,878,122 (GRCm39)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,467,835 (GRCm39)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,553,584 (GRCm39)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Or5af2	T	C	11: 58,708,544 (GRCm39)	S237P	probably damaging	Het
Or5b97	T	G	19: 12,878,815 (GRCm39)	T110P	probably damaging	Het
Or5m8	A	G	2: 85,822,631 (GRCm39)	M157V	probably damaging	Het
Osgin1	A	G	8: 120,172,028 (GRCm39)	E274G	probably damaging	Het
Otof	G	A	5: 30,551,525 (GRCm39)	R343W	probably damaging	Het
Pcdha9	A	T	18: 37,131,398 (GRCm39)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pira12	T	G	7: 3,898,571 (GRCm39)	Q292H	probably benign	Het
Samd4	A	T	14: 47,311,467 (GRCm39)	S262C	probably damaging	Het
Snap91	T	C	9: 86,672,207 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
St3gal4	A	G	9: 34,964,432 (GRCm39)	V190A	possibly damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Tmem201	A	T	4: 149,812,612 (GRCm39)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,711,644 (GRCm39)	S60P	probably benign	Het
Trpa1	T	C	1: 14,980,970 (GRCm39)	Y144C	probably benign	Het
U90926	G	A	5: 92,357,879 (GRCm39)	P91S	probably benign	Het
Utp20	G	T	10: 88,582,796 (GRCm39)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,260,697 (GRCm39)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,400,338 (GRCm39)	L237S	probably damaging	Het
Washc5	A	G	15: 59,215,929 (GRCm39)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,332,614 (GRCm39)		probably null	Het
Zfp212	G	A	6: 47,903,796 (GRCm39)	R127H	probably damaging	Het
Zfp268	C	A	4: 145,348,904 (GRCm39)	Q114K	probably benign	Het
Zfp740	G	T	15: 102,116,714 (GRCm39)		probably null	Het

Other mutations in Irx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Irx4	APN	13	73,416,810 (GRCm39)	missense	probably benign
IGL00979:Irx4	APN	13	73,416,341 (GRCm39)	splice site	probably benign
IGL01291:Irx4	APN	13	73,415,786 (GRCm39)	missense	probably damaging	1.00
IGL02054:Irx4	APN	13	73,416,947 (GRCm39)	missense	probably damaging	1.00
IGL02631:Irx4	APN	13	73,416,596 (GRCm39)	missense	probably damaging	1.00
IGL02893:Irx4	APN	13	73,416,897 (GRCm39)	missense	probably damaging	1.00
IGL03310:Irx4	APN	13	73,415,850 (GRCm39)	missense	possibly damaging	0.47
ANU05:Irx4	UTSW	13	73,415,786 (GRCm39)	missense	probably damaging	1.00
R0468:Irx4	UTSW	13	73,414,839 (GRCm39)	splice site	probably benign
R0502:Irx4	UTSW	13	73,414,703 (GRCm39)	splice site	probably null
R0503:Irx4	UTSW	13	73,414,703 (GRCm39)	splice site	probably null
R1468:Irx4	UTSW	13	73,413,695 (GRCm39)	missense	possibly damaging	0.53
R1468:Irx4	UTSW	13	73,413,695 (GRCm39)	missense	possibly damaging	0.53
R1710:Irx4	UTSW	13	73,415,757 (GRCm39)	missense	possibly damaging	0.90
R1733:Irx4	UTSW	13	73,414,824 (GRCm39)	missense	probably benign	0.00
R2076:Irx4	UTSW	13	73,416,384 (GRCm39)	missense	probably damaging	1.00
R2092:Irx4	UTSW	13	73,413,605 (GRCm39)	missense	probably damaging	0.97
R2127:Irx4	UTSW	13	73,413,595 (GRCm39)	missense	probably benign	0.03
R2199:Irx4	UTSW	13	73,413,720 (GRCm39)	missense	probably benign	0.16
R4157:Irx4	UTSW	13	73,413,662 (GRCm39)	missense	probably benign	0.00
R4883:Irx4	UTSW	13	73,415,750 (GRCm39)	missense	probably damaging	1.00
R4930:Irx4	UTSW	13	73,417,032 (GRCm39)	missense	probably benign	0.00
R4990:Irx4	UTSW	13	73,413,626 (GRCm39)	missense	probably benign	0.28
R5119:Irx4	UTSW	13	73,417,040 (GRCm39)	missense	probably benign
R5399:Irx4	UTSW	13	73,413,658 (GRCm39)	missense	probably benign	0.01
R5596:Irx4	UTSW	13	73,415,799 (GRCm39)	missense	probably damaging	1.00
R5956:Irx4	UTSW	13	73,415,626 (GRCm39)	nonsense	probably null
R6271:Irx4	UTSW	13	73,414,713 (GRCm39)	critical splice acceptor site	probably null
R6383:Irx4	UTSW	13	73,415,832 (GRCm39)	missense	possibly damaging	0.92
R6630:Irx4	UTSW	13	73,416,545 (GRCm39)	missense	probably benign	0.00
R6631:Irx4	UTSW	13	73,416,545 (GRCm39)	missense	probably benign	0.00
R6632:Irx4	UTSW	13	73,416,545 (GRCm39)	missense	probably benign	0.00
R6633:Irx4	UTSW	13	73,416,545 (GRCm39)	missense	probably benign	0.00
R7378:Irx4	UTSW	13	73,415,672 (GRCm39)	missense	possibly damaging	0.52
R9204:Irx4	UTSW	13	73,416,649 (GRCm39)	missense	probably damaging	1.00
R9207:Irx4	UTSW	13	73,416,649 (GRCm39)	missense	probably damaging	1.00
R9366:Irx4	UTSW	13	73,417,025 (GRCm39)	missense	probably benign

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