Incidental Mutation 'R0558:Irx1'
ID45751
Institutional Source Beutler Lab
Gene Symbol Irx1
Ensembl Gene ENSMUSG00000060969
Gene NameIroquois homeobox 1
Synonyms
MMRRC Submission 038750-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0558 (G1)
Quality Score185
Status Validated
Chromosome13
Chromosomal Location71957921-71963723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 71959628 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 312 (S312R)
Ref Sequence ENSEMBL: ENSMUSP00000076562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077337] [ENSMUST00000223379]
Predicted Effect probably benign
Transcript: ENSMUST00000077337
AA Change: S312R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076562
Gene: ENSMUSG00000060969
AA Change: S312R

DomainStartEndE-ValueType
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: S226R
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik T C 17: 25,947,549 N338S probably benign Het
Abcc2 G A 19: 43,800,724 G273R probably benign Het
Adamts10 T C 17: 33,550,609 V935A probably benign Het
Anapc15-ps T C 10: 95,673,121 D90G probably damaging Het
Atic T A 1: 71,563,788 V107E probably benign Het
Atp4b T C 8: 13,393,523 T52A possibly damaging Het
Cacna1h C T 17: 25,381,550 A1606T probably damaging Het
Cacng6 T A 7: 3,434,808 Y217* probably null Het
Cc2d2a T G 5: 43,724,387 probably benign Het
Cd226 T A 18: 89,207,214 H78Q probably benign Het
Cers3 A G 7: 66,783,418 D161G probably damaging Het
Ces1f T C 8: 93,275,389 H37R probably benign Het
Chek1 T A 9: 36,712,115 N421I possibly damaging Het
Cma2 T C 14: 55,972,792 Y45H probably damaging Het
Cmas C A 6: 142,775,244 Y401* probably null Het
Cyp2j8 A T 4: 96,444,634 S492T probably benign Het
Dnah12 T C 14: 26,709,310 S358P probably benign Het
Dnajc13 T C 9: 104,201,952 probably null Het
Ep400 A C 5: 110,685,067 probably benign Het
Fam209 T A 2: 172,472,838 N82K probably benign Het
Fam92a T C 4: 12,164,095 D248G probably damaging Het
G3bp2 A T 5: 92,073,197 Y20N probably damaging Het
Gli2 T C 1: 118,837,649 D924G probably benign Het
Gm10787 T C 10: 77,022,016 noncoding transcript Het
Gm11568 A G 11: 99,858,046 R26G unknown Het
Gm4788 A G 1: 139,739,492 V376A probably damaging Het
Hivep3 T G 4: 120,096,566 L693R probably damaging Het
Hook1 A G 4: 95,993,212 probably benign Het
Ibtk A C 9: 85,737,538 D116E probably damaging Het
Insrr C T 3: 87,810,981 T927I possibly damaging Het
Itga11 T C 9: 62,752,288 Y441H probably benign Het
Itsn1 A G 16: 91,899,623 D38G possibly damaging Het
Kat6b G T 14: 21,669,421 E1280D probably benign Het
Kcnk10 T A 12: 98,436,301 Y293F possibly damaging Het
Krt74 T A 15: 101,760,963 noncoding transcript Het
Lars T G 18: 42,214,837 I974L probably benign Het
Limch1 A G 5: 66,969,155 D42G probably damaging Het
Mau2 G C 8: 70,042,432 T85R probably damaging Het
Mkrn3 A G 7: 62,418,864 I393T probably benign Het
Mpl A C 4: 118,444,020 S541R probably damaging Het
Nfrkb T C 9: 31,410,268 S754P possibly damaging Het
Olfr1170 A G 2: 88,224,474 V186A possibly damaging Het
Olfr1233 A G 2: 89,340,236 L22P probably benign Het
Olfr1350 T C 7: 6,570,653 Y221H possibly damaging Het
Olfr1537 T A 9: 39,238,200 T75S probably damaging Het
P2rx7 A T 5: 122,673,798 I391F possibly damaging Het
Pbrm1 T A 14: 31,085,059 probably null Het
Pcdh8 T C 14: 79,770,076 D349G probably damaging Het
Pias1 A G 9: 62,882,009 S639P possibly damaging Het
Pkhd1l1 A T 15: 44,484,424 I232F probably damaging Het
Plxnc1 C T 10: 94,837,935 R995Q probably damaging Het
Pnliprp2 T A 19: 58,774,087 S375T probably benign Het
Prkar1b C T 5: 139,020,092 V313M probably benign Het
Ptpn13 T C 5: 103,529,717 S734P probably damaging Het
Rdh1 T C 10: 127,759,941 W2R possibly damaging Het
Rsph10b A T 5: 143,949,338 I285L probably benign Het
Rubcnl T C 14: 75,047,547 F502S probably damaging Het
Ryr2 T A 13: 11,638,443 I3693F probably damaging Het
Ryr2 T C 13: 11,799,861 Y675C probably damaging Het
Scaper T C 9: 55,685,923 T477A probably benign Het
Scn2a G T 2: 65,711,925 V791L probably benign Het
Sdk1 A T 5: 142,132,065 T1573S probably damaging Het
Sema3c A T 5: 17,714,415 H483L probably benign Het
Sema6c T C 3: 95,168,691 S219P probably damaging Het
Slc10a5 T G 3: 10,335,117 E161A probably damaging Het
Slc22a23 C T 13: 34,344,383 G139S possibly damaging Het
Slc34a3 C T 2: 25,233,065 probably benign Het
Slc38a9 A T 13: 112,729,196 probably null Het
Taok1 A C 11: 77,559,844 S367R possibly damaging Het
Tlr6 G A 5: 64,954,860 Q235* probably null Het
Top2a A G 11: 98,996,839 V1281A probably benign Het
Tpgs1 T C 10: 79,675,782 Y253H probably damaging Het
Tubgcp3 T C 8: 12,653,462 T288A probably benign Het
Ubr4 A G 4: 139,426,902 E2140G probably benign Het
Uso1 A G 5: 92,174,019 Q257R probably benign Het
Zfp106 A G 2: 120,532,196 V48A probably damaging Het
Zfp174 T A 16: 3,848,254 S128T possibly damaging Het
Zscan26 T A 13: 21,445,055 D426V probably benign Het
Other mutations in Irx1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4599:Irx1 UTSW 13 71960113 missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- TACAGTCCGTGGCTGGGTAGAAAG -3'
(R):5'- GATCGACCTGGAGAGCATTGACATC -3'

Sequencing Primer
(F):5'- TAGAAAGGCCGGGTGTTGC -3'
(R):5'- TCAGATCGACGAGCGTGATG -3'
Posted On2013-06-11