Incidental Mutation 'R1418:Arnt'
ID 159898
Institutional Source Beutler Lab
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Name aryl hydrocarbon receptor nuclear translocator
Synonyms Hif1b, ESTM42, D3Ertd557e, bHLHe2
MMRRC Submission 039474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1418 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95341699-95404551 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 95377710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107161]
AlphaFold P53762
Predicted Effect probably benign
Transcript: ENSMUST00000015666
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522

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 probably benign
Transcript: ENSMUST00000090804
SMART Domains Protein: ENSMUSP00000088313
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 710 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102749
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522

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: ENSMUST00000140060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156653
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 97% (92/95)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Abtb3 C A 10: 85,481,442 (GRCm39) T948K probably damaging Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Alb A G 5: 90,612,061 (GRCm39) probably benign Het
Asap2 A C 12: 21,289,586 (GRCm39) N501H probably damaging Het
Asap2 A G 12: 21,289,590 (GRCm39) E499G probably damaging Het
Atp5f1b C T 10: 127,919,167 (GRCm39) probably benign Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
AW554918 T G 18: 25,472,756 (GRCm39) probably null Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Bod1l G A 5: 41,976,814 (GRCm39) T1500I probably damaging Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cdk12 T A 11: 98,132,611 (GRCm39) S1013R unknown Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dnah17 T A 11: 117,964,849 (GRCm39) N2365Y probably damaging Het
Dnah7a T A 1: 53,686,395 (GRCm39) probably benign Het
Dnajc16 G T 4: 141,495,052 (GRCm39) S520* probably null Het
Dsg1b G T 18: 20,530,487 (GRCm39) E381* probably null Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Epn2 A G 11: 61,413,912 (GRCm39) S419P probably benign Het
Fat4 T C 3: 38,944,962 (GRCm39) I1285T probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gnas C T 2: 174,187,007 (GRCm39) probably benign Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Hsd17b4 G T 18: 50,263,254 (GRCm39) probably benign Het
Kmt2b A G 7: 30,276,385 (GRCm39) probably benign Het
Lrch1 T C 14: 75,041,709 (GRCm39) probably benign Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mtch2 A T 2: 90,683,359 (GRCm39) probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Mug1 C T 6: 121,815,635 (GRCm39) S13L probably benign Het
Naa25 T G 5: 121,561,797 (GRCm39) L450R probably damaging Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nrp2 C T 1: 62,822,491 (GRCm39) R695* probably null Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or2z9 T C 8: 72,854,231 (GRCm39) L209P probably damaging Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Pclo A T 5: 14,728,144 (GRCm39) probably benign Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Pkn3 T A 2: 29,973,059 (GRCm39) V323E probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plppr2 C T 9: 21,859,085 (GRCm39) P401S possibly damaging Het
Poln A G 5: 34,236,319 (GRCm39) V604A probably benign Het
Pramel21 T A 4: 143,342,604 (GRCm39) I237K probably benign Het
Prkd2 A G 7: 16,603,470 (GRCm39) D800G probably benign Het
Ptprb A G 10: 116,155,375 (GRCm39) T710A probably benign Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Ralbp1 A T 17: 66,166,143 (GRCm39) probably benign Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Sec24b T C 3: 129,801,072 (GRCm39) N408S probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Smcr8 T C 11: 60,668,858 (GRCm39) I2T probably damaging Het
Smtnl2 T C 11: 72,292,247 (GRCm39) T301A probably damaging Het
Smyd1 G A 6: 71,239,151 (GRCm39) T13I probably benign Het
Sp110 G A 1: 85,522,106 (GRCm39) H66Y probably benign Het
Szt2 A T 4: 118,244,976 (GRCm39) S1187T probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,680 (GRCm39) M405L possibly damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tmem132b C A 5: 125,715,313 (GRCm39) Q341K probably benign Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Utrn C T 10: 12,589,094 (GRCm39) V871I probably benign Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Vmn1r205 T C 13: 22,777,049 (GRCm39) K18E probably benign Het
Zfp518a T A 19: 40,902,803 (GRCm39) Y911N probably damaging Het
Zfyve28 A G 5: 34,374,590 (GRCm39) C475R probably damaging 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
R0801:Arnt UTSW 3 95,401,157 (GRCm39) missense possibly damaging 0.86
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'- GCGACGGAACAAGATGACAGCTTAC -3'
(R):5'- ACACTGATCCATGAGTGTGGCAAC -3'

Sequencing Primer
(F):5'- GCTTACATCACAGAACTGTCAG -3'
(R):5'- CACAGGTCATTTGTATGAGCC -3'
Posted On 2014-03-14