Incidental Mutation 'R0211:Arnt'
ID 35506
Institutional Source Beutler Lab
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Name aryl hydrocarbon receptor nuclear translocator
Synonyms Hif1b, ESTM42, D3Ertd557e, bHLHe2
MMRRC Submission 038462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0211 (G1)
Quality Score 113
Status Not validated
Chromosome 3
Chromosomal Location 95341699-95404551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95383460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 242 (M242K)
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: M237K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: M237K

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 damaging
Transcript: ENSMUST00000090804
AA Change: M242K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: M242K

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: M257K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: M257K

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: M242K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: M242K

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: M18K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116688
Gene: ENSMUSG00000015522
AA Change: M18K

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: ENSMUST00000147765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156653
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 100% (1/1)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
4930503B20Rik C T 3: 146,356,251 (GRCm39) R219H probably benign Het
Abcc9 T A 6: 142,634,710 (GRCm39) I185F probably benign Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Alk C T 17: 72,910,511 (GRCm39) R65H probably damaging Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Arhgef12 G A 9: 42,883,300 (GRCm39) R1411C probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Avpr1a T A 10: 122,285,374 (GRCm39) M222K possibly damaging Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Cc2d2a T A 5: 43,845,608 (GRCm39) probably null Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cntnap5b T A 1: 100,406,099 (GRCm39) D1136E possibly damaging Het
Coil T A 11: 88,872,979 (GRCm39) S447T probably damaging Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnaaf4 A T 9: 72,868,649 (GRCm39) R127S possibly damaging Het
Dnajb6 T C 5: 29,990,077 (GRCm39) probably benign Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Dscam T C 16: 96,517,279 (GRCm39) I877V possibly damaging Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Elp1 T A 4: 56,795,545 (GRCm39) I143F probably damaging Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
F2 T C 2: 91,460,503 (GRCm39) E329G probably damaging Het
Foxc2 T A 8: 121,843,355 (GRCm39) M1K probably null Het
Fuz T A 7: 44,548,446 (GRCm39) probably null Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
Gm6408 T A 5: 146,419,870 (GRCm39) F115I probably benign Het
Gp6 C T 7: 4,376,208 (GRCm39) probably null Het
Grin2a A G 16: 9,397,037 (GRCm39) S1017P possibly damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Hmmr A T 11: 40,605,635 (GRCm39) M318K probably damaging Het
Ifi205 T C 1: 173,855,994 (GRCm39) E12G probably benign Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Itpr2 C A 6: 146,096,111 (GRCm39) R2084L probably benign Het
Krt4 C A 15: 101,831,217 (GRCm39) S228I possibly damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Ltbp3 T C 19: 5,802,171 (GRCm39) probably null Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Ndufb9 A T 15: 58,811,131 (GRCm39) Q139L possibly damaging Het
Ngfr T G 11: 95,462,738 (GRCm39) E300A probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nrm T A 17: 36,175,503 (GRCm39) L203Q probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Os9 A G 10: 126,956,905 (GRCm39) V27A probably damaging Het
Osbpl9 T G 4: 108,930,321 (GRCm39) T332P probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plin4 C T 17: 56,409,242 (GRCm39) G1326D probably damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Pmfbp1 T A 8: 110,268,372 (GRCm39) V973D probably benign Het
Ppp2r1b T C 9: 50,772,925 (GRCm39) V70A probably benign Het
Prkar2b C A 12: 32,022,183 (GRCm39) V201L probably benign Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Ripk3 A T 14: 56,025,375 (GRCm39) L63Q probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Serac1 T A 17: 6,100,335 (GRCm39) R438S possibly damaging Het
Slc19a1 T A 10: 76,874,300 (GRCm39) S24T possibly damaging Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Syne2 A T 12: 76,144,731 (GRCm39) Q6299L probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tnni3k C T 3: 154,760,981 (GRCm39) probably benign Het
Togaram2 T A 17: 72,036,243 (GRCm39) V911D probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Vps13d A G 4: 144,841,348 (GRCm39) L2634S probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp536 T A 7: 37,267,874 (GRCm39) E514V probably damaging Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N 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
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
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'- TCATAAACACGGAATCTGGAAGGCTTG -3'
(R):5'- GGACCTACCAACTGTGCCTTAACTG -3'

Sequencing Primer
(F):5'- TGGCTGGACCCAAGCTTTG -3'
(R):5'- ACTGTGCCTTAACTGTAATTCACTG -3'
Posted On 2013-05-09