Incidental Mutation 'IGL00949:Arnt'
ID27124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arnt
Ensembl Gene ENSMUSG00000015522
Gene Namearyl hydrocarbon receptor nuclear translocator
SynonymsESTM42, Hif1b, D3Ertd557e, bHLHe2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00949
Quality Score
Status
Chromosome3
Chromosomal Location95434388-95497240 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95487268 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 381 (I381N)
Ref Sequence ENSEMBL: ENSMUSP00000102779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107161] [ENSMUST00000136413]
Predicted Effect probably damaging
Transcript: ENSMUST00000015666
AA Change: I376N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: I376N

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: I381N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: I381N

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: I396N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: I396N

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: I381N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: I381N

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 possibly damaging
Transcript: ENSMUST00000136413
AA Change: I112N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116688
Gene: ENSMUSG00000015522
AA Change: I112N

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: ENSMUST00000147094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149051
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 142,343,329 C303R probably damaging Het
Als2 C T 1: 59,215,572 G209S probably damaging Het
Ankrd11 T C 8: 122,908,728 T56A possibly damaging Het
Atp13a1 T C 8: 69,800,003 probably benign Het
Cd180 A T 13: 102,693,760 T21S possibly damaging Het
Cdc27 T C 11: 104,529,403 Y138C probably damaging Het
Dhx16 A G 17: 35,887,934 T753A probably benign Het
Dnah1 A G 14: 31,307,090 M561T probably benign Het
Dsc3 C A 18: 19,985,631 G259C probably null Het
Enox2 A T X: 49,040,607 D346E probably benign Het
Exoc3l T C 8: 105,290,498 E619G probably benign Het
Exosc9 T C 3: 36,563,266 probably benign Het
Gmpr2 C T 14: 55,676,750 probably benign Het
Golga1 T C 2: 39,041,255 E289G probably damaging Het
Hist1h3a G A 13: 23,762,031 T108I probably damaging Het
Jmy A G 13: 93,454,002 V531A probably damaging Het
Lamp2 T C X: 38,435,473 N156S probably benign Het
Lrrn1 C A 6: 107,569,300 N686K probably benign Het
Lyst T C 13: 13,635,485 V580A possibly damaging Het
Ms4a8a C A 19: 11,079,444 L91F probably benign Het
Naip2 A G 13: 100,161,591 F646L probably damaging Het
Npat T C 9: 53,563,362 V818A probably benign Het
Olfr1362 A T 13: 21,611,351 I206N probably damaging Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Pid1 A G 1: 84,038,506 V46A probably damaging Het
Pld5 A T 1: 175,975,473 C409S probably damaging Het
Plet1 A G 9: 50,499,223 T105A possibly damaging Het
Polrmt T C 10: 79,737,597 probably null Het
Pp2d1 T C 17: 53,515,639 N133S probably benign Het
Prpf40b G T 15: 99,306,538 V228L probably benign Het
Ptgfrn A T 3: 101,072,845 M393K probably benign Het
Slc9a1 C T 4: 133,416,451 T416I probably benign Het
Slc9c1 T C 16: 45,593,358 S950P probably benign Het
Slitrk1 A T 14: 108,911,809 V490D probably damaging Het
Th T C 7: 142,897,026 Y131C probably benign Het
Tlr6 A G 5: 64,953,512 L684P probably damaging Het
Tpm3 A G 3: 90,089,858 E234G probably damaging Het
Tti1 A G 2: 157,982,399 Y1045H probably benign Het
Txnl4b T A 8: 109,569,075 V37D probably benign Het
Ufl1 A T 4: 25,275,822 F194I probably damaging Het
Usp13 G A 3: 32,886,577 E412K possibly damaging Het
Usp46 A T 5: 74,003,242 L251Q possibly damaging Het
Other mutations in Arnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Arnt APN 3 95490340 missense probably damaging 0.98
IGL01304:Arnt APN 3 95448385 missense probably damaging 1.00
IGL01634:Arnt APN 3 95470398 splice site probably benign
IGL01685:Arnt APN 3 95474681 missense probably damaging 1.00
IGL01768:Arnt APN 3 95491016 unclassified probably benign
IGL02738:Arnt APN 3 95495320 unclassified probably null
IGL02941:Arnt APN 3 95460370 splice site probably benign
R0211:Arnt UTSW 3 95476149 missense probably damaging 1.00
R0211:Arnt UTSW 3 95476149 missense probably damaging 1.00
R0420:Arnt UTSW 3 95470394 splice site probably benign
R0801:Arnt UTSW 3 95493846 missense possibly damaging 0.86
R1418:Arnt UTSW 3 95470399 splice site probably benign
R1523:Arnt UTSW 3 95489654 missense possibly damaging 0.77
R1956:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R1957:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R1958:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R1969:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R1970:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R1971:Arnt UTSW 3 95448393 missense possibly damaging 0.94
R3743:Arnt UTSW 3 95474705 missense possibly damaging 0.49
R4561:Arnt UTSW 3 95452613 missense probably damaging 0.96
R4780:Arnt UTSW 3 95488385 missense probably damaging 1.00
R4827:Arnt UTSW 3 95489913 unclassified probably null
R4913:Arnt UTSW 3 95490654 missense probably damaging 1.00
R5051:Arnt UTSW 3 95470337 missense probably benign 0.08
R5572:Arnt UTSW 3 95474704 missense possibly damaging 0.49
R5866:Arnt UTSW 3 95490726 unclassified probably benign
R6376:Arnt UTSW 3 95490625 missense probably damaging 0.99
R6491:Arnt UTSW 3 95476143 missense probably damaging 1.00
R6873:Arnt UTSW 3 95474575 missense probably damaging 1.00
R6920:Arnt UTSW 3 95490621 missense probably damaging 0.99
R7485:Arnt UTSW 3 95495348 missense probably damaging 1.00
R7731:Arnt UTSW 3 95483775 missense probably benign 0.33
R7786:Arnt UTSW 3 95484956 missense probably damaging 0.96
R7797:Arnt UTSW 3 95480261 critical splice donor site probably null
X0020:Arnt UTSW 3 95494565 missense probably benign 0.10
X0026:Arnt UTSW 3 95474630 missense probably damaging 1.00
Posted On2013-04-17