Incidental Mutation 'R8396:Irx5'
ID 647610
Institutional Source Beutler Lab
Gene Symbol Irx5
Ensembl Gene ENSMUSG00000031737
Gene Name Iroquois homeobox 5
Synonyms
MMRRC Submission 067812-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8396 (G1)
Quality Score 150.008
Status Not validated
Chromosome 8
Chromosomal Location 93084424-93088084 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93086962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 298 (G298D)
Ref Sequence ENSEMBL: ENSMUSP00000034184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034184] [ENSMUST00000210246]
AlphaFold Q9JKQ4
Predicted Effect probably benign
Transcript: ENSMUST00000034184
AA Change: G298D

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034184
Gene: ENSMUSG00000031737
AA Change: G298D

DomainStartEndE-ValueType
HOX 112 177 1.14e-12 SMART
low complexity region 185 202 N/A INTRINSIC
low complexity region 245 257 N/A INTRINSIC
low complexity region 307 327 N/A INTRINSIC
IRO 328 345 2.28e-5 SMART
low complexity region 351 369 N/A INTRINSIC
low complexity region 375 389 N/A INTRINSIC
low complexity region 417 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210246
AA Change: G298D

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A G 10: 18,528,280 (GRCm39) probably null Het
Arid1a T C 4: 133,479,973 (GRCm39) Y317C probably damaging Het
Asxl2 A G 12: 3,552,220 (GRCm39) T1321A probably benign Het
Bckdk A G 7: 127,504,931 (GRCm39) Y129C probably damaging Het
Birc2 A G 9: 7,834,301 (GRCm39) V60A probably benign Het
Bmp8a T C 4: 123,218,952 (GRCm39) H152R probably benign Het
C3 T C 17: 57,528,029 (GRCm39) H730R probably benign Het
Ccser1 T A 6: 61,289,088 (GRCm39) V417E probably benign Het
Cfap58 T A 19: 48,017,540 (GRCm39) M800K probably damaging Het
Clip1 A G 5: 123,780,627 (GRCm39) L352P probably damaging Het
Cr2 A G 1: 194,840,376 (GRCm39) L522P probably damaging Het
Ctcf T A 8: 106,393,379 (GRCm39) H347Q possibly damaging Het
Gm13271 A T 4: 88,673,318 (GRCm39) M72L probably benign Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Klf5 T C 14: 99,539,670 (GRCm39) I361T possibly damaging Het
Lsm11 G A 11: 45,835,591 (GRCm39) A50V probably benign Het
Map1b T C 13: 99,570,621 (GRCm39) K700R unknown Het
Muc5b A T 7: 141,405,552 (GRCm39) T954S unknown Het
Nhsl1 A G 10: 18,400,910 (GRCm39) N678S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Ntsr2 A G 12: 16,706,821 (GRCm39) H283R probably damaging Het
Obscn A T 11: 58,893,829 (GRCm39) I6746N probably benign Het
Obsl1 T C 1: 75,480,350 (GRCm39) T425A probably benign Het
Pag1 T A 3: 9,759,112 (GRCm39) E335D probably benign Het
Parp3 T A 9: 106,351,447 (GRCm39) Q223L probably benign Het
Pogz T C 3: 94,786,061 (GRCm39) V883A probably benign Het
Rsbn1l A T 5: 21,132,665 (GRCm39) M198K probably benign Het
Sh3bgr A G 16: 96,007,680 (GRCm39) probably null Het
Shc4 A G 2: 125,471,617 (GRCm39) I600T probably damaging Het
Slc26a1 T C 5: 108,821,715 (GRCm39) H74R probably benign Het
Slc7a11 A C 3: 50,338,578 (GRCm39) I277S possibly damaging Het
Tep1 G T 14: 51,074,529 (GRCm39) T1832N probably benign Het
Terf2 A G 8: 107,809,613 (GRCm39) probably null Het
Tle4 G A 19: 14,432,323 (GRCm39) Q458* probably null Het
Trim34b A T 7: 103,979,083 (GRCm39) D110V probably damaging Het
Usp9y A T Y: 1,308,034 (GRCm39) N2267K possibly damaging Het
Vmn2r50 G A 7: 9,781,639 (GRCm39) Q369* probably null Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp229 T C 17: 21,965,077 (GRCm39) S436P probably damaging Het
Other mutations in Irx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Irx5 APN 8 93,087,331 (GRCm39) missense probably damaging 1.00
IGL01870:Irx5 APN 8 93,086,405 (GRCm39) missense probably damaging 1.00
IGL01985:Irx5 APN 8 93,086,155 (GRCm39) splice site probably benign
IGL02481:Irx5 APN 8 93,087,307 (GRCm39) missense probably damaging 1.00
IGL02597:Irx5 APN 8 93,087,400 (GRCm39) missense possibly damaging 0.93
IGL03257:Irx5 APN 8 93,087,258 (GRCm39) missense probably benign 0.00
R0784:Irx5 UTSW 8 93,087,118 (GRCm39) missense probably benign
R1498:Irx5 UTSW 8 93,086,514 (GRCm39) missense probably damaging 1.00
R1762:Irx5 UTSW 8 93,086,272 (GRCm39) missense probably damaging 1.00
R1783:Irx5 UTSW 8 93,086,316 (GRCm39) missense probably damaging 1.00
R1951:Irx5 UTSW 8 93,086,438 (GRCm39) missense probably damaging 1.00
R1953:Irx5 UTSW 8 93,086,438 (GRCm39) missense probably damaging 1.00
R2019:Irx5 UTSW 8 93,084,992 (GRCm39) missense probably damaging 1.00
R3875:Irx5 UTSW 8 93,086,793 (GRCm39) missense probably benign 0.00
R3942:Irx5 UTSW 8 93,086,314 (GRCm39) missense probably damaging 0.98
R4361:Irx5 UTSW 8 93,085,025 (GRCm39) missense probably damaging 0.99
R4574:Irx5 UTSW 8 93,084,890 (GRCm39) missense probably damaging 0.99
R4994:Irx5 UTSW 8 93,087,409 (GRCm39) missense probably damaging 1.00
R5579:Irx5 UTSW 8 93,086,541 (GRCm39) missense probably benign 0.01
R5884:Irx5 UTSW 8 93,087,258 (GRCm39) missense possibly damaging 0.95
R5988:Irx5 UTSW 8 93,087,299 (GRCm39) nonsense probably null
R6017:Irx5 UTSW 8 93,084,878 (GRCm39) missense probably damaging 1.00
R6339:Irx5 UTSW 8 93,086,481 (GRCm39) missense probably damaging 0.99
R6466:Irx5 UTSW 8 93,086,354 (GRCm39) missense probably damaging 1.00
R6595:Irx5 UTSW 8 93,086,247 (GRCm39) missense probably damaging 1.00
R7344:Irx5 UTSW 8 93,086,183 (GRCm39) missense probably benign 0.24
R8166:Irx5 UTSW 8 93,086,712 (GRCm39) splice site probably null
R8215:Irx5 UTSW 8 93,086,241 (GRCm39) missense possibly damaging 0.77
R8695:Irx5 UTSW 8 93,087,327 (GRCm39) missense probably damaging 1.00
R8991:Irx5 UTSW 8 93,087,135 (GRCm39) nonsense probably null
R9412:Irx5 UTSW 8 93,086,351 (GRCm39) missense probably damaging 1.00
R9522:Irx5 UTSW 8 93,087,259 (GRCm39) missense possibly damaging 0.84
R9708:Irx5 UTSW 8 93,087,118 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- CCGAATCAGGTTGGTGGATG -3'
(R):5'- CGCCGTGTAATAAAGAGGCC -3'

Sequencing Primer
(F):5'- CTCTGACAGCCTGGGTTTCG -3'
(R):5'- GCTGCCTCCAAGCGTTTG -3'
Posted On 2020-09-02