Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Irx1'

345469

Institutional Source

Beutler Lab

Gene Symbol

Irx1

Ensembl Gene

ENSMUSG00000060969

Gene Name

Iroquois homeobox 1

Synonyms

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71957921-71963723 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71960113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 150 (R150L)

Ref Sequence

ENSEMBL: ENSMUSP00000076562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077337] [ENSMUST00000223379]

AlphaFold

P81068

Predicted Effect

probably damaging
Transcript: ENSMUST00000077337
AA Change: R150L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076562
Gene: ENSMUSG00000060969
AA Change: R150L

Domain	Start	End	E-Value	Type
low complexity region	49	56	N/A	INTRINSIC
low complexity region	64	74	N/A	INTRINSIC
low complexity region	105	120	N/A	INTRINSIC
HOX	128	192	6.93e-12	SMART
low complexity region	218	235	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
IRO	309	326	1.14e-5	SMART
low complexity region	396	422	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222586

Predicted Effect

probably benign
Transcript: ENSMUST00000223379

Predicted Effect

unknown
Transcript: ENSMUST00000223460
AA Change: R64L

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	Het

Other mutations in Irx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Irx1	APN	13	71959957	missense	probably damaging	1.00
IGL01085:Irx1	APN	13	71959697	missense	probably benign
IGL02902:Irx1	APN	13	71959855	missense	probably benign
R0558:Irx1	UTSW	13	71959628	missense	probably benign	0.10
R2350:Irx1	UTSW	13	71960048	missense	probably damaging	0.98
R2507:Irx1	UTSW	13	71959820	missense	probably damaging	0.97
R3085:Irx1	UTSW	13	71963292	missense	probably damaging	0.98
R3857:Irx1	UTSW	13	71963458	missense	possibly damaging	0.86
R4466:Irx1	UTSW	13	71959982	missense	probably damaging	1.00
R4978:Irx1	UTSW	13	71963485	missense	possibly damaging	0.73
R6296:Irx1	UTSW	13	71959668	missense	probably damaging	0.98
R7532:Irx1	UTSW	13	71960195	missense	possibly damaging	0.53
R7721:Irx1	UTSW	13	71960057	missense	probably benign	0.37
R7810:Irx1	UTSW	13	71959798	missense	probably benign
R8773:Irx1	UTSW	13	71959516	missense	probably damaging	1.00
R9020:Irx1	UTSW	13	71963429	nonsense	probably null
R9311:Irx1	UTSW	13	71959297	missense	probably benign
R9666:Irx1	UTSW	13	71963469	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCTCTCCAGGTCGATCTC -3'
(R):5'- TGCTTCAGGGCTCTCAGTATG -3'

Sequencing Primer
(F):5'- TCGGTGTCGCTGCCAAAG -3'
(R):5'- GTATGAACTGAAGGACAACCCCG -3'

Posted On

2015-09-25