Incidental Mutation 'R0801:Arnt'
ID 76268
Institutional Source Beutler Lab
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Name aryl hydrocarbon receptor nuclear translocator
Synonyms Hif1b, ESTM42, D3Ertd557e, bHLHe2
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0801 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95341699-95404551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95401157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 702 (R702L)
Ref Sequence ENSEMBL: ENSMUSP00000099810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107161]
AlphaFold P53762
Predicted Effect possibly damaging
Transcript: ENSMUST00000015666
AA Change: R682L

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: R682L

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 69 128 2.9e-11 SMART
PAS 143 210 7.4e-13 SMART
low complexity region 231 242 N/A INTRINSIC
PAS 332 397 7.6e-10 SMART
PAC 404 447 9.6e-7 SMART
low complexity region 705 718 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090804
AA Change: R687L

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: R687L

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 80 133 1e-14 SMART
PAS 148 215 1.51e-10 SMART
low complexity region 236 247 N/A INTRINSIC
PAS 337 402 1.55e-7 SMART
PAC 409 452 1.95e-4 SMART
low complexity region 710 723 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102749
AA Change: R702L

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: R702L

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 95 148 1e-14 SMART
PAS 163 230 1.51e-10 SMART
low complexity region 251 262 N/A INTRINSIC
PAS 352 417 1.55e-7 SMART
PAC 424 467 1.95e-4 SMART
low complexity region 725 738 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107161
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
HLH 80 133 1e-14 SMART
PAS 148 215 1.51e-10 SMART
low complexity region 236 247 N/A INTRINSIC
PAS 337 402 1.55e-7 SMART
PAC 409 452 1.95e-4 SMART
low complexity region 694 707 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149051
Meta Mutation Damage Score 0.1218 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Arnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Arnt APN 3 95,397,651 (GRCm39) missense probably damaging 0.98
IGL00949:Arnt APN 3 95,394,579 (GRCm39) missense probably damaging 1.00
IGL01304:Arnt APN 3 95,355,696 (GRCm39) missense probably damaging 1.00
IGL01634:Arnt APN 3 95,377,709 (GRCm39) splice site probably benign
IGL01685:Arnt APN 3 95,381,992 (GRCm39) missense probably damaging 1.00
IGL01768:Arnt APN 3 95,398,327 (GRCm39) unclassified probably benign
IGL02738:Arnt APN 3 95,402,631 (GRCm39) splice site probably null
IGL02941:Arnt APN 3 95,367,681 (GRCm39) splice site probably benign
R0211:Arnt UTSW 3 95,383,460 (GRCm39) missense probably damaging 1.00
R0211:Arnt UTSW 3 95,383,460 (GRCm39) missense probably damaging 1.00
R0420:Arnt UTSW 3 95,377,705 (GRCm39) splice site probably benign
R1418:Arnt UTSW 3 95,377,710 (GRCm39) splice site probably benign
R1523:Arnt UTSW 3 95,396,965 (GRCm39) missense possibly damaging 0.77
R1956:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R1957:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R1958:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R1969:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R1970:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R1971:Arnt UTSW 3 95,355,704 (GRCm39) missense possibly damaging 0.94
R3743:Arnt UTSW 3 95,382,016 (GRCm39) missense possibly damaging 0.49
R4561:Arnt UTSW 3 95,359,924 (GRCm39) missense probably damaging 0.96
R4780:Arnt UTSW 3 95,395,696 (GRCm39) missense probably damaging 1.00
R4827:Arnt UTSW 3 95,397,224 (GRCm39) splice site probably null
R4913:Arnt UTSW 3 95,397,965 (GRCm39) missense probably damaging 1.00
R5051:Arnt UTSW 3 95,377,648 (GRCm39) missense probably benign 0.08
R5572:Arnt UTSW 3 95,382,015 (GRCm39) missense possibly damaging 0.49
R5866:Arnt UTSW 3 95,398,037 (GRCm39) unclassified probably benign
R6376:Arnt UTSW 3 95,397,936 (GRCm39) missense probably damaging 0.99
R6491:Arnt UTSW 3 95,383,454 (GRCm39) missense probably damaging 1.00
R6873:Arnt UTSW 3 95,381,886 (GRCm39) missense probably damaging 1.00
R6920:Arnt UTSW 3 95,397,932 (GRCm39) missense probably damaging 0.99
R7485:Arnt UTSW 3 95,402,659 (GRCm39) missense probably damaging 1.00
R7731:Arnt UTSW 3 95,391,086 (GRCm39) missense probably benign 0.33
R7786:Arnt UTSW 3 95,392,267 (GRCm39) missense probably damaging 0.96
R7797:Arnt UTSW 3 95,387,572 (GRCm39) critical splice donor site probably null
R7947:Arnt UTSW 3 95,381,837 (GRCm39) splice site probably null
R8143:Arnt UTSW 3 95,377,294 (GRCm39) splice site probably null
R8446:Arnt UTSW 3 95,382,014 (GRCm39) frame shift probably null
R8701:Arnt UTSW 3 95,401,076 (GRCm39) missense possibly damaging 0.60
R8859:Arnt UTSW 3 95,397,691 (GRCm39) critical splice donor site probably null
R9096:Arnt UTSW 3 95,397,588 (GRCm39) missense probably benign 0.01
R9097:Arnt UTSW 3 95,397,588 (GRCm39) missense probably benign 0.01
R9244:Arnt UTSW 3 95,397,879 (GRCm39) missense possibly damaging 0.74
R9322:Arnt UTSW 3 95,397,929 (GRCm39) missense probably benign 0.30
R9386:Arnt UTSW 3 95,395,687 (GRCm39) missense possibly damaging 0.75
R9481:Arnt UTSW 3 95,391,092 (GRCm39) missense possibly damaging 0.94
R9542:Arnt UTSW 3 95,397,954 (GRCm39) missense probably benign 0.01
X0020:Arnt UTSW 3 95,401,876 (GRCm39) missense probably benign 0.10
X0026:Arnt UTSW 3 95,381,941 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTCCAGACCAGTGATGCCTCTC -3'
(R):5'- AAACAGACCTGGACCATGCATTTCC -3'

Sequencing Primer
(F):5'- TGAGTATCGACTTACAGGAATGC -3'
(R):5'- CTTATAATTCGGTCAGCACATGCAG -3'
Posted On 2013-10-16