Incidental Mutation 'IGL01685:Arnt'
ID 103934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Name aryl hydrocarbon receptor nuclear translocator
Synonyms Hif1b, ESTM42, D3Ertd557e, bHLHe2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01685
Quality Score
Status
Chromosome 3
Chromosomal Location 95341699-95404551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95381992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 195 (Y195C)
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: Y190C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: Y190C

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: Y195C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: Y195C

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: Y210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: Y210C

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: Y195C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: Y195C

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 benign
Transcript: ENSMUST00000136413
SMART Domains Protein: ENSMUSP00000116688
Gene: ENSMUSG00000015522

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
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,301,327 (GRCm39) R66S possibly damaging Het
Adamtsl4 A G 3: 95,591,905 (GRCm39) V61A possibly damaging Het
Brd3 A G 2: 27,349,500 (GRCm39) I351T probably damaging Het
Cd28 T A 1: 60,802,307 (GRCm39) Y75* probably null Het
Cyfip2 A G 11: 46,098,315 (GRCm39) probably benign Het
Dip2a T G 10: 76,163,583 (GRCm39) E39A probably damaging Het
Dst T C 1: 34,209,533 (GRCm39) V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 (GRCm39) L1216P probably damaging Het
Ecm2 A T 13: 49,682,374 (GRCm39) I468F probably damaging Het
Gucy1b1 C A 3: 81,942,592 (GRCm39) V517F probably benign Het
H2-T23 T C 17: 36,343,536 (GRCm39) Q9R probably benign Het
Huwe1 T C X: 150,681,666 (GRCm39) probably benign Het
Hydin A T 8: 111,081,665 (GRCm39) K354* probably null Het
Ighv14-2 A T 12: 113,958,121 (GRCm39) S107T probably damaging Het
Klk1b8 A C 7: 43,604,294 (GRCm39) K254T possibly damaging Het
Lama3 T A 18: 12,586,937 (GRCm39) probably benign Het
Macroh2a2 C T 10: 61,593,550 (GRCm39) S42N probably damaging Het
Mbd6 G T 10: 127,120,601 (GRCm39) probably benign Het
Mob1a A T 6: 83,309,485 (GRCm39) E32D probably benign Het
Mrps27 A T 13: 99,551,428 (GRCm39) Q397L possibly damaging Het
Or8b3 T C 9: 38,314,317 (GRCm39) I46T possibly damaging Het
Pcdhb18 A C 18: 37,624,984 (GRCm39) K771N probably benign Het
Pcdhgc5 T G 18: 37,954,808 (GRCm39) L694R probably damaging Het
Pi4ka A T 16: 17,143,066 (GRCm39) D815E probably benign Het
Plin4 T C 17: 56,414,362 (GRCm39) K88E probably damaging Het
Rint1 A T 5: 23,992,832 (GRCm39) probably benign Het
Ssbp1 A G 6: 40,453,699 (GRCm39) T82A probably damaging Het
Trpm5 A T 7: 142,636,091 (GRCm39) S558T probably benign Het
Tti1 A G 2: 157,842,705 (GRCm39) S775P probably benign Het
Zic3 T C X: 57,077,088 (GRCm39) V183A 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
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
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
Posted On 2014-01-21