Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Arnt'

675506

Institutional Source

Beutler Lab

Gene Symbol

Arnt

Ensembl Gene

ENSMUSG00000015522

Gene Name

aryl hydrocarbon receptor nuclear translocator

Synonyms

Hif1b, ESTM42, D3Ertd557e, bHLHe2

MMRRC Submission

068739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95341699-95404551 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95397691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107161] [ENSMUST00000136413]

AlphaFold

P53762

Predicted Effect

probably benign
Transcript: ENSMUST00000015666

SMART Domains

Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522

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

SMART Domains

Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522

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 null
Transcript: ENSMUST00000102749

SMART Domains

Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522

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 benign
Transcript: ENSMUST00000107161

SMART Domains

Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Fubp1	A	T	3: 151,937,669 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Phrf1	G	T	7: 140,836,516 (GRCm39)	G263W	unknown	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tgm1	C	A	14: 55,949,686 (GRCm39)	R126L	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tor1aip1	A	G	1: 155,907,190 (GRCm39)	C195R	probably benign	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	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
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
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'- ATCAGTGCCAGTGAGAATGTTC -3'
(R):5'- TTAGGAGGGAATGAGCTGCC -3'

Sequencing Primer
(F):5'- TGCAGGATCAGAACACAG -3'
(R):5'- GAGATGCCTTTACTCTGATCTGCAG -3'

Posted On

2021-07-15