Mutagenetix > Incidental Mutation

Incidental Mutation 'R4913:Arnt'

379682

Institutional Source

Beutler Lab

Gene Symbol

Arnt

Ensembl Gene

ENSMUSG00000015522

Gene Name

aryl hydrocarbon receptor nuclear translocator

Synonyms

Hif1b, ESTM42, D3Ertd557e, bHLHe2

MMRRC Submission

042515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95341699-95404551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95397965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 588 (R588G)

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: R583G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: R583G

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 damaging
Transcript: ENSMUST00000090804
AA Change: R588G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: R588G

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: R603G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: R603G

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: R588G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: R588G

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

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,255,381 (GRCm39)	M267K	possibly damaging	Het
Acsm5	T	C	7: 119,133,566 (GRCm39)	S244P	probably damaging	Het
Actr6	A	G	10: 89,550,808 (GRCm39)	F329L	probably benign	Het
Actrt3	A	G	3: 30,652,588 (GRCm39)	S169P	probably benign	Het
Agtpbp1	C	A	13: 59,647,886 (GRCm39)	G645C	probably damaging	Het
AI661453	C	T	17: 47,779,480 (GRCm39)	R1069*	probably null	Het
Akr1c6	T	C	13: 4,504,524 (GRCm39)	I303T	probably benign	Het
Atf1	A	G	15: 100,149,979 (GRCm39)		probably null	Het
Casp12	T	C	9: 5,358,726 (GRCm39)	V318A	probably damaging	Het
Cblb	C	T	16: 51,986,392 (GRCm39)	P545L	possibly damaging	Het
Cc2d2a	A	T	5: 43,896,665 (GRCm39)	I1521F	probably benign	Het
Ccn2	T	C	10: 24,473,225 (GRCm39)	C255R	probably damaging	Het
Ccnb1ip1	T	A	14: 51,029,601 (GRCm39)	K154*	probably null	Het
Cd300a	A	T	11: 114,784,198 (GRCm39)	K69*	probably null	Het
Cdin1	A	G	2: 115,500,568 (GRCm39)		probably null	Het
Clec10a	A	G	11: 70,060,851 (GRCm39)	Y78C	probably damaging	Het
Cnot1	T	C	8: 96,489,695 (GRCm39)	I503V	possibly damaging	Het
Cpa2	A	G	6: 30,554,292 (GRCm39)	H304R	probably damaging	Het
Crb2	A	T	2: 37,680,257 (GRCm39)	H395L	probably benign	Het
Dnah8	T	A	17: 31,038,113 (GRCm39)	N4257K	probably damaging	Het
Dnase2a	G	A	8: 85,635,477 (GRCm39)	D25N	probably damaging	Het
Drd1	T	C	13: 54,207,186 (GRCm39)	T343A	probably benign	Het
Emid1	G	A	11: 5,082,012 (GRCm39)	T161I	probably benign	Het
Epn2	A	G	11: 61,425,402 (GRCm39)		probably null	Het
Esp36	A	T	17: 38,728,055 (GRCm39)	N75K	possibly damaging	Het
Faf1	A	G	4: 109,792,746 (GRCm39)	S573G	possibly damaging	Het
Fam149a	T	G	8: 45,806,920 (GRCm39)	S231R	probably damaging	Het
Fam78a	T	C	2: 31,959,774 (GRCm39)	E112G	probably damaging	Het
Fgf18	T	C	11: 33,084,316 (GRCm39)	D46G	probably benign	Het
Fggy	G	A	4: 95,585,313 (GRCm39)		probably null	Het
Foxb1	T	C	9: 69,666,859 (GRCm39)	M224V	probably benign	Het
Gpr75	T	C	11: 30,841,808 (GRCm39)	C238R	possibly damaging	Het
Gsdmc3	A	G	15: 63,730,122 (GRCm39)	*481R	probably null	Het
H2az2	C	A	11: 6,383,750 (GRCm39)	A57S	probably damaging	Het
Hsd17b11	T	C	5: 104,140,748 (GRCm39)	I250V	probably benign	Het
Hus1	C	A	11: 8,946,856 (GRCm39)	L280F	probably benign	Het
Ide	A	T	19: 37,306,469 (GRCm39)	H101Q	unknown	Het
Ido1	T	C	8: 25,074,533 (GRCm39)	D279G	probably benign	Het
Inpp5b	T	C	4: 124,674,214 (GRCm39)	V307A	probably benign	Het
Ipo5	G	A	14: 121,172,498 (GRCm39)	V519I	probably damaging	Het
Krba1	T	C	6: 48,383,891 (GRCm39)	V239A	probably benign	Het
Lmod3	A	G	6: 97,224,125 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,393,682 (GRCm39)	D836G	probably damaging	Het
Malt1	G	T	18: 65,609,351 (GRCm39)	C774F	probably damaging	Het
Map2k4	C	A	11: 65,600,758 (GRCm39)	D58Y	probably damaging	Het
Mc2r	T	C	18: 68,540,411 (GRCm39)	N294S	probably benign	Het
Mybpc1	A	G	10: 88,389,116 (GRCm39)		probably null	Het
Mybpc3	A	G	2: 90,956,609 (GRCm39)	E637G	possibly damaging	Het
Narf	A	G	11: 121,135,469 (GRCm39)	Q107R	probably damaging	Het
Nlrp3	G	A	11: 59,440,064 (GRCm39)	G547D	probably benign	Het
Nucb2	G	T	7: 116,123,540 (GRCm39)	G51*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Otog	C	A	7: 45,913,526 (GRCm39)	D786E	probably benign	Het
Otogl	T	C	10: 107,712,716 (GRCm39)	T543A	probably damaging	Het
Pgap6	T	C	17: 26,339,513 (GRCm39)	F584L	probably damaging	Het
Phf20l1	A	G	15: 66,476,704 (GRCm39)	N266S	probably benign	Het
Pink1	G	T	4: 138,042,866 (GRCm39)	S446*	probably null	Het
Pkp4	T	G	2: 59,135,794 (GRCm39)	H186Q	probably damaging	Het
Prl3b1	T	C	13: 27,433,460 (GRCm39)	V205A	probably damaging	Het
Prss32	T	C	17: 24,078,157 (GRCm39)	V281A	probably damaging	Het
Psd3	C	T	8: 68,573,821 (GRCm39)	C120Y	probably damaging	Het
Ptcra	A	G	17: 47,069,574 (GRCm39)	L99P	probably damaging	Het
Rab3gap2	C	T	1: 184,995,026 (GRCm39)	T855I	probably benign	Het
Rabgap1l	T	C	1: 160,066,111 (GRCm39)	E199G	probably damaging	Het
Rbm44	T	A	1: 91,083,216 (GRCm39)	C580S	probably damaging	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rhoq	T	C	17: 87,302,493 (GRCm39)	V143A	probably benign	Het
Sacs	T	A	14: 61,451,246 (GRCm39)	Y4431N	probably benign	Het
Sec24b	A	T	3: 129,796,028 (GRCm39)	S367T	probably benign	Het
Sema4c	G	A	1: 36,589,266 (GRCm39)	S620F	probably benign	Het
Slc12a1	G	A	2: 125,070,670 (GRCm39)	G1054E	probably damaging	Het
Slc16a3	A	G	11: 120,848,794 (GRCm39)	R417G	probably benign	Het
Slc22a29	A	T	19: 8,195,722 (GRCm39)	S106T	probably benign	Het
Slc41a2	T	C	10: 83,149,284 (GRCm39)	T220A	probably damaging	Het
Tap1	T	C	17: 34,412,468 (GRCm39)	F474L	possibly damaging	Het
Tas2r106	G	T	6: 131,655,422 (GRCm39)	A143D	probably benign	Het
Tbx6	A	T	7: 126,383,707 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,706 (GRCm39)	N402I	probably damaging	Het
Tle3	T	A	9: 61,281,275 (GRCm39)	V22E	probably damaging	Het
Trip4	T	C	9: 65,765,639 (GRCm39)	I353M	probably damaging	Het
Ubr2	C	A	17: 47,270,385 (GRCm39)		probably null	Het
Ugdh	A	G	5: 65,580,791 (GRCm39)		probably null	Het
Uhrf1	T	C	17: 56,622,478 (GRCm39)	V431A	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Zfp820	T	C	17: 22,038,200 (GRCm39)	K376R	probably benign	Het

Other mutations in Arnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTGCCCAGTCAGCATACTTC -3'
(R):5'- TTTGGAACCTAGAGCAAGGC -3'

Sequencing Primer
(F):5'- CAGCATACTTCTACTTCAGTTACAG -3'
(R):5'- TTTGGAACCTAGAGCAAGGCAATAG -3'

Posted On

2016-04-15