Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Irx1'

52549

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irx1

Ensembl Gene

ENSMUSG00000060969

Gene Name

Iroquois homeobox 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

72106351-72111842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72107816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 289 (S289P)

Ref Sequence

ENSEMBL: ENSMUSP00000076562 (fasta)

Gene Model

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

AlphaFold

P81068

Predicted Effect

probably benign
Transcript: ENSMUST00000077337
AA Change: S289P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076562
Gene: ENSMUSG00000060969
AA Change: S289P

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: S203P

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,944,763 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,310,478 (GRCm39)	Y453C	probably damaging	Het
Bop1	T	C	15: 76,337,576 (GRCm39)	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,569,006 (GRCm39)	R974S	probably damaging	Het
Ceacam23	A	T	7: 17,649,616 (GRCm39)	H729L	possibly damaging	Het
Cenpt	T	C	8: 106,573,297 (GRCm39)	E350G	possibly damaging	Het
Cep112	G	T	11: 108,377,432 (GRCm39)	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236 (GRCm39)	T26A	probably damaging	Het
Crot	T	C	5: 9,023,955 (GRCm39)	H387R	probably damaging	Het
Fdxr	A	T	11: 115,160,402 (GRCm39)	V351E	probably benign	Het
Fkbpl	T	C	17: 34,864,718 (GRCm39)	L162P	probably damaging	Het
Fmn2	T	A	1: 174,523,220 (GRCm39)	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,469,764 (GRCm39)	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,594,969 (GRCm39)	I42K	probably benign	Het
Igfals	C	T	17: 25,100,634 (GRCm39)	T575I	probably benign	Het
Il6	G	T	5: 30,218,487 (GRCm39)	V28F	probably damaging	Het
Ncoa2	T	C	1: 13,219,303 (GRCm39)	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 77,634,983 (GRCm39)	R28L	probably benign	Het
Nudt5	G	A	2: 5,869,238 (GRCm39)	V155I	probably benign	Het
Or9s13	G	T	1: 92,547,921 (GRCm39)	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,762,640 (GRCm39)	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,426,148 (GRCm39)		probably null	Het
Prodh	A	T	16: 17,894,208 (GRCm39)	V339E	probably damaging	Het
Rbm48	C	T	5: 3,634,762 (GRCm39)	V401M	probably benign	Het
Retreg3	G	A	11: 100,991,751 (GRCm39)	Q61*	probably null	Het
Rif1	A	G	2: 51,975,152 (GRCm39)	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,626,926 (GRCm39)	V507M	probably damaging	Het
Safb2	T	A	17: 56,872,242 (GRCm39)	R197*	probably null	Het
Slc22a26	A	G	19: 7,767,464 (GRCm39)	V314A	probably benign	Het
Slfnl1	G	T	4: 120,390,553 (GRCm39)	R68L	probably damaging	Het
Spata1	G	T	3: 146,181,997 (GRCm39)	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Thpo	T	C	16: 20,547,205 (GRCm39)	D52G	probably damaging	Het
Tmem101	A	T	11: 102,045,486 (GRCm39)	L121Q	probably damaging	Het
Trim40	T	C	17: 37,194,133 (GRCm39)	I187V	probably benign	Het
Usp33	A	G	3: 152,074,206 (GRCm39)	K351E	possibly damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vcan	T	C	13: 89,828,077 (GRCm39)	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,385,771 (GRCm39)	V61I	probably benign	Het
Zfp804b	A	G	5: 6,820,931 (GRCm39)	S675P	probably damaging	Het

Other mutations in Irx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Irx1	APN	13	72,108,076 (GRCm39)	missense	probably damaging	1.00
IGL02902:Irx1	APN	13	72,107,974 (GRCm39)	missense	probably benign
R0558:Irx1	UTSW	13	72,107,747 (GRCm39)	missense	probably benign	0.10
R2350:Irx1	UTSW	13	72,108,167 (GRCm39)	missense	probably damaging	0.98
R2507:Irx1	UTSW	13	72,107,939 (GRCm39)	missense	probably damaging	0.97
R3085:Irx1	UTSW	13	72,111,411 (GRCm39)	missense	probably damaging	0.98
R3857:Irx1	UTSW	13	72,111,577 (GRCm39)	missense	possibly damaging	0.86
R4466:Irx1	UTSW	13	72,108,101 (GRCm39)	missense	probably damaging	1.00
R4599:Irx1	UTSW	13	72,108,232 (GRCm39)	missense	probably damaging	0.99
R4978:Irx1	UTSW	13	72,111,604 (GRCm39)	missense	possibly damaging	0.73
R6296:Irx1	UTSW	13	72,107,787 (GRCm39)	missense	probably damaging	0.98
R7532:Irx1	UTSW	13	72,108,314 (GRCm39)	missense	possibly damaging	0.53
R7721:Irx1	UTSW	13	72,108,176 (GRCm39)	missense	probably benign	0.37
R7810:Irx1	UTSW	13	72,107,917 (GRCm39)	missense	probably benign
R8773:Irx1	UTSW	13	72,107,635 (GRCm39)	missense	probably damaging	1.00
R9020:Irx1	UTSW	13	72,111,548 (GRCm39)	nonsense	probably null
R9311:Irx1	UTSW	13	72,107,416 (GRCm39)	missense	probably benign
R9666:Irx1	UTSW	13	72,111,588 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21