Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Arnt'

12475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arnt

Ensembl Gene

ENSMUSG00000015522

Gene Name

aryl hydrocarbon receptor nuclear translocator

Synonyms

ESTM42, Hif1b, D3Ertd557e, bHLHe2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

95434388-95497240 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95490340 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 541 (D541G)

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: D536G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: D536G

Domain	Start	End	E-Value	Type
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
AA Change: D541G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: D541G

Domain	Start	End	E-Value	Type
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: D556G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: D556G

Domain	Start	End	E-Value	Type
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: D541G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: D541G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Arnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Arnt	APN	3	95487268	missense	probably damaging	1.00
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	splice site	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	splice site	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
R7947:Arnt	UTSW	3	95474526	splice site	probably null
R8143:Arnt	UTSW	3	95469983	splice site	probably null
R8446:Arnt	UTSW	3	95474703	frame shift	probably null
R8701:Arnt	UTSW	3	95493765	missense	possibly damaging	0.60
X0020:Arnt	UTSW	3	95494565	missense	probably benign	0.10
X0026:Arnt	UTSW	3	95474630	missense	probably damaging	1.00

Posted On

2012-12-06