Mutagenetix > Incidental Mutation

Incidental Mutation 'R1957:Arnt'

217883

Institutional Source

Beutler Lab

Gene Symbol

Arnt

Ensembl Gene

ENSMUSG00000015522

Gene Name

aryl hydrocarbon receptor nuclear translocator

Synonyms

Hif1b, ESTM42, D3Ertd557e, bHLHe2

MMRRC Submission

039971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95341699-95404551 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95355704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 16 (S16L)

Ref Sequence

ENSEMBL: ENSMUSP00000102778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015666] [ENSMUST00000090804] [ENSMUST00000102749] [ENSMUST00000107160] [ENSMUST00000107161]

AlphaFold

P53762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015666
AA Change: S16L

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000015666
Gene: ENSMUSG00000015522
AA Change: S16L

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: S16L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088313
Gene: ENSMUSG00000015522
AA Change: S16L

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 benign
Transcript: ENSMUST00000102749
AA Change: S16L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099810
Gene: ENSMUSG00000015522
AA Change: S16L

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

possibly damaging
Transcript: ENSMUST00000107160
AA Change: S16L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102778
Gene: ENSMUSG00000015522
AA Change: S16L

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107161
AA Change: S16L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102779
Gene: ENSMUSG00000015522
AA Change: S16L

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

noncoding transcript
Transcript: ENSMUST00000147765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149051

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (117/121)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,068 (GRCm39)		probably benign	Het
Aadacl4fm5	G	A	4: 144,504,389 (GRCm39)	T254I	possibly damaging	Het
Abce1	A	G	8: 80,412,578 (GRCm39)	I583T	probably benign	Het
Abtb3	T	C	10: 85,469,563 (GRCm39)	L828P	probably damaging	Het
Adcy1	A	T	11: 7,111,945 (GRCm39)	T937S	probably benign	Het
Adgra2	A	G	8: 27,601,196 (GRCm39)	I279V	possibly damaging	Het
Adgrl4	A	T	3: 151,216,416 (GRCm39)	N533I	possibly damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Amelx	A	T	X: 167,965,153 (GRCm39)		probably null	Het
Anks1b	A	T	10: 89,885,792 (GRCm39)	T163S	probably damaging	Het
Apc	A	G	18: 34,450,388 (GRCm39)	E2394G	probably damaging	Het
Arhgef39	C	T	4: 43,499,309 (GRCm39)	G56E	probably damaging	Het
Arsj	A	G	3: 126,232,670 (GRCm39)	N472S	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
B3gat1	A	T	9: 26,667,248 (GRCm39)	D160V	possibly damaging	Het
Bmp7	T	C	2: 172,781,714 (GRCm39)	E50G	probably damaging	Het
Bms1	T	C	6: 118,369,939 (GRCm39)	E869G	probably damaging	Het
Brd4	G	A	17: 32,440,340 (GRCm39)	P332L	possibly damaging	Het
C130074G19Rik	T	C	1: 184,615,095 (GRCm39)	T32A	probably benign	Het
C1rl	A	T	6: 124,486,021 (GRCm39)	Y464F	probably damaging	Het
Ccdc150	T	A	1: 54,303,068 (GRCm39)	M193K	probably benign	Het
Ccdc7a	A	G	8: 129,706,616 (GRCm39)	S338P	probably damaging	Het
Cenpu	T	C	8: 47,025,872 (GRCm39)		probably benign	Het
Cep170	A	C	1: 176,597,013 (GRCm39)	V448G	probably benign	Het
Col27a1	G	T	4: 63,196,031 (GRCm39)	A879S	probably benign	Het
Crtac1	C	T	19: 42,276,383 (GRCm39)	S515N	possibly damaging	Het
Cstad	G	A	2: 30,498,293 (GRCm39)	V43M	unknown	Het
Daam1	T	C	12: 72,029,529 (GRCm39)		probably null	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dsg3	A	G	18: 20,655,162 (GRCm39)	N153S	probably damaging	Het
Dzip3	C	A	16: 48,747,956 (GRCm39)	L1151F	probably damaging	Het
Eml5	A	T	12: 98,826,220 (GRCm39)	H644Q	probably damaging	Het
Emsy	A	G	7: 98,297,027 (GRCm39)	L52P	probably damaging	Het
Eno1	T	A	4: 150,331,232 (GRCm39)		probably null	Het
Epha3	T	A	16: 63,593,315 (GRCm39)	T258S	probably benign	Het
Ern1	T	C	11: 106,317,723 (GRCm39)	T134A	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fam151b	T	A	13: 92,614,411 (GRCm39)	T26S	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Fbn1	T	C	2: 125,209,574 (GRCm39)	N930S	possibly damaging	Het
Fgr	A	G	4: 132,725,673 (GRCm39)	M361V	probably benign	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Fndc7	G	A	3: 108,790,825 (GRCm39)	T67I	probably damaging	Het
Fxr2	A	G	11: 69,534,766 (GRCm39)	T216A	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5174	A	T	10: 86,492,617 (GRCm39)		noncoding transcript	Het
Gm5431	A	T	11: 48,779,224 (GRCm39)	L844*	probably null	Het
Gm6489	T	C	1: 31,326,452 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,678 (GRCm39)	V344A	probably damaging	Het
Gtpbp3	A	G	8: 71,943,099 (GRCm39)	E170G	probably damaging	Het
H2az1	A	C	3: 137,571,275 (GRCm39)		probably benign	Het
Heatr1	A	G	13: 12,411,419 (GRCm39)	N87D	probably damaging	Het
Iars2	T	C	1: 185,027,868 (GRCm39)	K687E	possibly damaging	Het
Ica1	T	C	6: 8,749,736 (GRCm39)	D71G	possibly damaging	Het
Ifnlr1	T	C	4: 135,413,881 (GRCm39)	L10P	probably damaging	Het
Il1r1	T	A	1: 40,352,300 (GRCm39)	L490*	probably null	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itgbl1	T	A	14: 124,204,090 (GRCm39)	F394I	probably damaging	Het
Kat6b	T	C	14: 21,678,947 (GRCm39)	Y437H	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Krt27	A	T	11: 99,237,309 (GRCm39)		probably null	Het
Mki67	A	T	7: 135,300,128 (GRCm39)	D1635E	probably benign	Het
Mmp23	G	T	4: 155,736,509 (GRCm39)	H177Q	possibly damaging	Het
Myef2l	G	T	3: 10,154,346 (GRCm39)	V372F	probably benign	Het
Mylk2	C	A	2: 152,759,527 (GRCm39)	Q406K	possibly damaging	Het
Myo1g	A	G	11: 6,462,159 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,197,160 (GRCm39)	T261A	probably benign	Het
Nmt2	C	T	2: 3,326,419 (GRCm39)	P486L	possibly damaging	Het
Oard1	T	A	17: 48,722,304 (GRCm39)	L100*	probably null	Het
Oca2	T	C	7: 55,971,246 (GRCm39)	I391T	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5k17	T	A	16: 58,746,530 (GRCm39)	M135L	probably benign	Het
Or5p64	A	C	7: 107,854,403 (GRCm39)	L314*	probably null	Het
Or6c68	A	T	10: 129,157,740 (GRCm39)	I83F	possibly damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Or9k2b	C	A	10: 130,015,847 (GRCm39)	A301S	possibly damaging	Het
Pabpc4	T	A	4: 123,180,658 (GRCm39)	S127T	probably damaging	Het
Pcdhb1	A	G	18: 37,398,760 (GRCm39)	D237G	probably damaging	Het
Pdcd6ip	T	C	9: 113,537,090 (GRCm39)	Y29C	probably damaging	Het
Phf3	C	A	1: 30,870,601 (GRCm39)	R95L	probably damaging	Het
Pkd1l2	A	T	8: 117,757,421 (GRCm39)	V1539D	probably damaging	Het
Plxna1	A	T	6: 89,308,273 (GRCm39)	D1271E	probably damaging	Het
Ppp3r2	A	G	4: 49,681,726 (GRCm39)	F75L	probably damaging	Het
Pth2r	C	A	1: 65,411,514 (GRCm39)	D350E	probably damaging	Het
Rabgap1	T	C	2: 37,373,774 (GRCm39)	F262S	possibly damaging	Het
Rbbp6	T	C	7: 122,589,511 (GRCm39)	S438P	probably benign	Het
Rexo1	G	A	10: 80,379,200 (GRCm39)	R1038C	probably damaging	Het
Rnf10	A	G	5: 115,398,381 (GRCm39)		probably benign	Het
Scyl1	C	A	19: 5,810,132 (GRCm39)	A565S	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc32a1	T	C	2: 158,455,963 (GRCm39)	V206A	probably damaging	Het
Smyd5	G	A	6: 85,415,121 (GRCm39)	R43Q	probably benign	Het
Snrnp200	G	A	2: 127,058,095 (GRCm39)	A286T	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Srebf2	T	A	15: 82,079,155 (GRCm39)	H794Q	probably benign	Het
Ssbp2	T	C	13: 91,812,303 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,455,207 (GRCm39)	G3023D	probably damaging	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stab2	A	G	10: 86,697,334 (GRCm39)	Y1985H	probably benign	Het
Suz12	A	G	11: 79,889,926 (GRCm39)	M146V	probably benign	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,899 (GRCm39)	E323G	probably damaging	Het
Tnfrsf26	T	A	7: 143,171,660 (GRCm39)	T98S	probably damaging	Het
Trim15	T	C	17: 37,173,215 (GRCm39)		probably benign	Het
Trpt1	T	C	19: 6,975,561 (GRCm39)	V105A	possibly damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r175	A	G	7: 23,507,808 (GRCm39)	V273A	probably benign	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Wdfy4	A	T	14: 32,693,641 (GRCm39)	L2728Q	probably damaging	Het
Zfp934	T	A	13: 62,666,108 (GRCm39)	T178S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGACTGCCTTCCTG -3'
(R):5'- CAATTAGATGTGTGGTCAGGAATAAAC -3'

Sequencing Primer
(F):5'- GGTATATGCCTACCTATGAGTCAG -3'
(R):5'- TGTGGTCAGGAATAAACAAGAGCC -3'

Posted On

2014-08-01