Incidental Mutation 'R6491:Arnt'
ID 522851
Institutional Source Beutler Lab
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Name aryl hydrocarbon receptor nuclear translocator
Synonyms Hif1b, ESTM42, D3Ertd557e, bHLHe2
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 95341699-95404551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95383454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 240 (M240K)
Ref Sequence ENSEMBL: ENSMUSP00000102779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107161] [ENSMUST00000136413]
AlphaFold P53762
Predicted Effect probably damaging
Transcript: ENSMUST00000015666
AA Change: M235K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: M235K

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: M240K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: M240K

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 damaging
Transcript: ENSMUST00000102749
AA Change: M255K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: M255K

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 damaging
Transcript: ENSMUST00000107161
AA Change: M240K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: M240K

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 probably damaging
Transcript: ENSMUST00000136413
AA Change: M16K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116688
Gene: ENSMUSG00000015522
AA Change: M16K

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Blast:PAS 97 126 7e-8 BLAST
PDB:2B02|A 97 126 5e-9 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156653
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Trappc3 A G 4: 126,169,022 (GRCm39) I171V probably benign Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null 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
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
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'- CACGGAATCTGGAAGGCTTG -3'
(R):5'- CAACTGTGCCTTAACTGTAATTCAC -3'

Sequencing Primer
(F):5'- TGGCTGGACCCAAGCTTTG -3'
(R):5'- TGGTAAAACAACTGGTTCTTGAAAG -3'
Posted On 2018-06-06