Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Irx1'

735737

Institutional Source

Beutler Lab

Gene Symbol

Irx1

Ensembl Gene

ENSMUSG00000060969

Gene Name

Iroquois homeobox 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9666 (G1)

Quality Score

173.009

Status

Not validated

Chromosome

Chromosomal Location

72106351-72111842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72111588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 7 (G7V)

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: G7V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076562
Gene: ENSMUSG00000060969
AA Change: G7V

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

probably benign
Transcript: ENSMUST00000223379

Predicted Effect

probably benign
Transcript: ENSMUST00000223460

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	A	12: 118,838,422 (GRCm39)	V1047L	probably damaging	Het
Akap6	G	A	12: 53,188,318 (GRCm39)	A1911T	probably benign	Het
Ank2	T	A	3: 126,726,838 (GRCm39)	K819*	probably null	Het
Apc2	A	G	10: 80,147,183 (GRCm39)	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Bysl	A	G	17: 47,914,865 (GRCm39)	I206T	probably benign	Het
Ccdc70	A	C	8: 22,463,357 (GRCm39)	E49A	possibly damaging	Het
Chd1	A	T	17: 15,955,976 (GRCm39)	H525L	probably damaging	Het
Col4a4	T	C	1: 82,496,670 (GRCm39)	E442G	unknown	Het
Cpd	G	A	11: 76,693,133 (GRCm39)	P718S	probably benign	Het
Dip2b	T	A	15: 100,107,461 (GRCm39)	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,501,946 (GRCm39)	T541A	probably damaging	Het
Dst	C	T	1: 34,218,947 (GRCm39)	Q1796*	probably null	Het
Gm10267	T	C	18: 44,291,397 (GRCm39)	I25V	probably benign	Het
Gm32742	C	T	9: 51,061,441 (GRCm39)	R744Q	probably benign	Het
Gm37240	T	C	3: 84,422,952 (GRCm39)	Y139C	probably damaging	Het
Gm39115	A	G	7: 141,689,255 (GRCm39)	C173R	unknown	Het
Grm6	T	G	11: 50,750,877 (GRCm39)	V680G	probably damaging	Het
Grxcr2	C	T	18: 42,131,956 (GRCm39)	D38N	probably damaging	Het
Iah1	G	A	12: 21,366,587 (GRCm39)	R52H	probably damaging	Het
Ift43	A	G	12: 86,131,920 (GRCm39)	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,945,588 (GRCm39)	I334V	probably benign	Het
Igfn1	T	A	1: 135,897,692 (GRCm39)	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,489,263 (GRCm39)	A343T	possibly damaging	Het
Ints1	T	C	5: 139,748,217 (GRCm39)	I1128V	probably benign	Het
Krr1	A	G	10: 111,818,896 (GRCm39)	R312G	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lpin2	A	T	17: 71,529,065 (GRCm39)	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,943,557 (GRCm39)	E204V	possibly damaging	Het
Megf8	A	G	7: 25,030,166 (GRCm39)	T434A	possibly damaging	Het
Minar1	A	T	9: 89,484,072 (GRCm39)	S442T	probably benign	Het
Muc16	T	C	9: 18,567,285 (GRCm39)	T1745A	unknown	Het
Mycbp2	G	T	14: 103,371,474 (GRCm39)	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,857,045 (GRCm39)	V398A	possibly damaging	Het
Or1e22	A	G	11: 73,376,885 (GRCm39)	I255T	probably damaging	Het
Or1e29	A	T	11: 73,667,976 (GRCm39)	M59K	probably damaging	Het
Or5w11	C	T	2: 87,459,152 (GRCm39)	A115V	possibly damaging	Het
Or6a2	A	T	7: 106,600,099 (GRCm39)	S323T	probably benign	Het
Or6e1	G	T	14: 54,520,342 (GRCm39)	N3K	probably damaging	Het
Or6f1	A	G	7: 85,970,444 (GRCm39)	S239P	probably damaging	Het
Parg	A	G	14: 31,964,294 (GRCm39)	N653S	probably damaging	Het
Plek	A	G	11: 16,945,346 (GRCm39)	F18L	probably benign	Het
Pnoc	A	G	14: 65,639,247 (GRCm39)	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,049,129 (GRCm39)	M1V	probably null	Het
Pramel21	A	G	4: 143,341,699 (GRCm39)	T43A	probably benign	Het
Psg22	T	C	7: 18,458,248 (GRCm39)	V313A	probably benign	Het
Ptk2b	G	T	14: 66,409,546 (GRCm39)	P497T	probably damaging	Het
Rer1	A	G	4: 155,160,044 (GRCm39)		probably null	Het
Rnf130	A	G	11: 49,986,618 (GRCm39)	T321A	probably benign	Het
Rnf207	A	T	4: 152,397,717 (GRCm39)	F346I	probably damaging	Het
Rraga	T	A	4: 86,494,574 (GRCm39)	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262 (GRCm39)	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,792,622 (GRCm39)	V495D	probably benign	Het
Slc44a5	T	C	3: 153,945,926 (GRCm39)	L153P	probably benign	Het
Spag16	T	C	1: 70,764,072 (GRCm39)	S631P	probably damaging	Het
Syne1	A	C	10: 4,984,937 (GRCm39)	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675 (GRCm39)	E21G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957 (GRCm39)	D1344G	probably damaging	Het
Tnc	C	T	4: 63,926,045 (GRCm39)	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,037 (GRCm39)	T38A	probably benign	Het
Trbv15	T	A	6: 41,118,364 (GRCm39)	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,973,455 (GRCm39)	I288V	possibly damaging	Het
Ttn	A	T	2: 76,604,941 (GRCm39)	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 139,587,836 (GRCm39)	I263N	probably damaging	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r2	T	C	3: 64,023,870 (GRCm39)	T904A	probably benign	Het
Zfp575	G	A	7: 24,285,323 (GRCm39)	T106M	probably damaging	Het
Zfp617	A	G	8: 72,686,539 (GRCm39)	T290A	probably benign	Het
Zfp809	T	C	9: 22,149,863 (GRCm39)	V120A	probably benign	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
IGL01085:Irx1	APN	13	72,107,816 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ATACATGCCTAGCACCGAGG -3'
(R):5'- AACTTCAAATTGTGTCTGAGAGCC -3'

Sequencing Primer
(F):5'- TAGCACCGAGGTGACCGCGGCCGCT -3'
(R):5'- CGCGCGATCTCGGATAC -3'

Posted On

2022-11-14