Incidental Mutation 'R4466:Irx1'
ID 330365
Institutional Source Beutler Lab
Gene Symbol Irx1
Ensembl Gene ENSMUSG00000060969
Gene Name Iroquois homeobox 1
Synonyms
MMRRC Submission 041723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4466 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 72106351-72111842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72108101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 194 (G194W)
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: G194W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076562
Gene: ENSMUSG00000060969
AA Change: G194W

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 probably damaging
Transcript: ENSMUST00000223460
AA Change: G108W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,745,887 (GRCm39) noncoding transcript Het
Adgra1 T A 7: 139,420,752 (GRCm39) probably benign Het
Akap13 T A 7: 75,252,521 (GRCm39) probably null Het
Amn1 T C 6: 149,068,343 (GRCm39) probably null Het
Ano5 T A 7: 51,220,023 (GRCm39) F374I probably damaging Het
Apol7c T C 15: 77,410,664 (GRCm39) E94G probably benign Het
Arid4b A T 13: 14,307,095 (GRCm39) S117C probably damaging Het
Atm C A 9: 53,359,469 (GRCm39) E2778* probably null Het
Cped1 A T 6: 22,123,651 (GRCm39) Q468L probably benign Het
Crygb A G 1: 65,119,645 (GRCm39) S112P probably damaging Het
Eeig2 T A 3: 108,887,124 (GRCm39) R291S probably benign Het
Eml4 C T 17: 83,729,103 (GRCm39) Q93* probably null Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fhad1 A T 4: 141,684,969 (GRCm39) S457T probably damaging Het
Frmd4b A G 6: 97,300,614 (GRCm39) probably null Het
Gm5134 G C 10: 75,844,409 (GRCm39) K588N probably benign Het
Gpr21 A G 2: 37,407,570 (GRCm39) T39A probably benign Het
Itgal C T 7: 126,927,684 (GRCm39) T992I possibly damaging Het
Itpr3 T C 17: 27,325,316 (GRCm39) L1303P probably damaging Het
Kdm2a A T 19: 4,370,328 (GRCm39) D1052E probably damaging Het
Klhl6 T C 16: 19,776,018 (GRCm39) D180G probably damaging Het
M6pr A G 6: 122,290,228 (GRCm39) T64A probably benign Het
Mrpl47 G A 3: 32,784,240 (GRCm39) R177* probably null Het
Mtfr2 A G 10: 20,224,159 (GRCm39) Y31C probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Oas2 A G 5: 120,887,667 (GRCm39) S58P probably damaging Het
Or1j11 A T 2: 36,312,308 (GRCm39) R299S probably benign Het
Or5b124 G A 19: 13,610,801 (GRCm39) E109K probably damaging Het
Or8b36 T A 9: 37,937,479 (GRCm39) C126S probably damaging Het
Polr1b A T 2: 128,965,802 (GRCm39) I815L probably benign Het
Psma8 T C 18: 14,854,231 (GRCm39) I37T possibly damaging Het
Ryr3 T C 2: 112,483,447 (GRCm39) E4100G possibly damaging Het
Serpina3g C T 12: 104,204,182 (GRCm39) probably benign Het
Serpina3m A T 12: 104,357,874 (GRCm39) Y266F probably damaging Het
Sez6l2 T A 7: 126,559,023 (GRCm39) D423E probably damaging Het
Sh3gl2 A G 4: 85,299,688 (GRCm39) E224G possibly damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc24a2 A T 4: 87,146,099 (GRCm39) probably benign Het
Smyd2 A G 1: 189,614,349 (GRCm39) M393T probably benign Het
Sox8 C A 17: 25,787,879 (GRCm39) G190V probably benign Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stk35 C A 2: 129,643,436 (GRCm39) T140K probably damaging Het
Taf6 A C 5: 138,179,463 (GRCm39) probably benign Het
Ten1 A C 11: 116,095,823 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttn A G 2: 76,544,044 (GRCm39) F32981L probably damaging Het
Zik1 G T 7: 10,224,893 (GRCm39) T68K probably benign Het
Zzef1 T A 11: 72,815,485 (GRCm39) I2935N probably damaging Het
Other mutations in Irx1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGTCTCAGCAGCCGACAATG -3'
(R):5'- GGTCAGTTTCAATACGGGGATCC -3'

Sequencing Primer
(F):5'- ACAATGGGGAGCTCTGGTC -3'
(R):5'- CCGGACGGCCCAAGAAC -3'
Posted On 2015-07-21