Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Arnt'

219409

Institutional Source

Beutler Lab

Gene Symbol

Arnt

Ensembl Gene

ENSMUSG00000015522

Gene Name

aryl hydrocarbon receptor nuclear translocator

Synonyms

Hif1b, ESTM42, D3Ertd557e, bHLHe2

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1969 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,609 (GRCm39)		probably benign	Het
Apoh	G	A	11: 108,298,288 (GRCm39)	R196Q	probably benign	Het
B4galnt4	T	C	7: 140,644,761 (GRCm39)	F194L	probably benign	Het
BC034090	A	T	1: 155,100,972 (GRCm39)	L431M	possibly damaging	Het
Bdh2	G	T	3: 134,994,040 (GRCm39)	A31S	probably damaging	Het
Brd10	C	T	19: 29,694,075 (GRCm39)	S1873N	possibly damaging	Het
Cacna1s	T	C	1: 136,046,833 (GRCm39)	S1821P	probably benign	Het
Caskin1	A	T	17: 24,725,824 (GRCm39)	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdk15	A	T	1: 59,370,110 (GRCm39)	H384L	probably damaging	Het
Col24a1	T	C	3: 145,020,691 (GRCm39)	I354T	probably benign	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Ctnna2	T	C	6: 77,735,483 (GRCm39)	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,948,162 (GRCm39)	W172R	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,734,890 (GRCm39)	A493T	probably benign	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx4	T	A	13: 112,757,276 (GRCm39)	H348L	probably damaging	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dok7	A	G	5: 35,234,610 (GRCm39)		probably null	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,637,090 (GRCm39)	I988M	probably damaging	Het
Elfn1	G	C	5: 139,958,604 (GRCm39)	R536P	probably damaging	Het
Eml6	A	G	11: 29,783,075 (GRCm39)	V602A	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Evi5	A	T	5: 107,896,230 (GRCm39)	F738I	probably benign	Het
Eya2	T	C	2: 165,558,039 (GRCm39)	S212P	probably benign	Het
Fam83a	T	C	15: 57,849,498 (GRCm39)	L14P	probably damaging	Het
Fanca	A	T	8: 124,014,803 (GRCm39)	M735K	probably benign	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fibcd1	G	A	2: 31,706,673 (GRCm39)	T386I	probably damaging	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Fscb	T	C	12: 64,520,008 (GRCm39)	E486G	unknown	Het
Galnt17	A	G	5: 131,179,782 (GRCm39)	S122P	probably benign	Het
Ghitm	A	G	14: 36,853,586 (GRCm39)	F85L	probably benign	Het
Ghrh	C	A	2: 157,175,386 (GRCm39)	V32L	probably benign	Het
Gli2	C	T	1: 118,765,430 (GRCm39)	R907H	probably benign	Het
Gm28042	A	G	2: 119,872,096 (GRCm39)	*1015W	probably null	Het
Gpr179	T	C	11: 97,228,784 (GRCm39)	T1124A	probably benign	Het
Grid2	C	A	6: 63,885,902 (GRCm39)	C99*	probably null	Het
Grin1	A	T	2: 25,187,927 (GRCm39)	M523K	probably benign	Het
Gucy2g	T	C	19: 55,211,328 (GRCm39)	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,221,485 (GRCm39)	T339P	probably benign	Het
Haus6	A	T	4: 86,522,483 (GRCm39)	L116H	probably damaging	Het
Hey1	T	C	3: 8,731,879 (GRCm39)	T18A	probably benign	Het
Hipk3	T	C	2: 104,264,186 (GRCm39)	N792D	probably damaging	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Il21r	A	G	7: 125,228,144 (GRCm39)	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,782,122 (GRCm39)	D169G	probably null	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lrba	A	G	3: 86,515,696 (GRCm39)	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,866,972 (GRCm39)	V679A	probably benign	Het
Lyst	G	A	13: 13,904,929 (GRCm39)	R3202H	probably damaging	Het
Micall2	A	G	5: 139,721,885 (GRCm39)	C11R	probably damaging	Het
Morc2b	T	G	17: 33,356,065 (GRCm39)	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,639,111 (GRCm39)	E81G	probably damaging	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,326,914 (GRCm39)	D158E	probably benign	Het
Nckap5l	T	A	15: 99,320,699 (GRCm39)	T1285S	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,627,878 (GRCm39)	L453P	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2n1c	A	G	17: 38,519,355 (GRCm39)	Y73C	probably damaging	Het
Or4c125	T	A	2: 89,170,640 (GRCm39)	N2I	probably damaging	Het
Or52k2	A	T	7: 102,253,777 (GRCm39)	D72V	probably damaging	Het
Or7a40	T	A	16: 16,491,447 (GRCm39)	M133L	probably benign	Het
Patl1	T	C	19: 11,898,782 (GRCm39)	L159P	probably benign	Het
Paxip1	G	A	5: 27,949,134 (GRCm39)	T1045I	probably damaging	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pik3ca	A	G	3: 32,505,903 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plec	C	T	15: 76,073,372 (GRCm39)	R319H	probably damaging	Het
Pnkd	G	A	1: 74,391,008 (GRCm39)	G334D	probably damaging	Het
Prss50	A	G	9: 110,691,449 (GRCm39)	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,979,209 (GRCm39)	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,476,867 (GRCm39)	R4W	probably damaging	Het
Rgs19	A	T	2: 181,331,276 (GRCm39)	F119Y	probably damaging	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Serpine1	G	A	5: 137,096,601 (GRCm39)	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,308 (GRCm39)	T502S	possibly damaging	Het
Sox4	T	C	13: 29,136,631 (GRCm39)	D125G	probably damaging	Het
Spata31d1e	T	C	13: 59,890,599 (GRCm39)	D407G	probably damaging	Het
Stag3	C	T	5: 138,298,400 (GRCm39)	T731I	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964 (GRCm39)	V195F	probably benign	Het
Tnxb	A	G	17: 34,898,055 (GRCm39)	H901R	probably benign	Het
Trim39	A	T	17: 36,579,645 (GRCm39)	D103E	probably benign	Het
Ttn	A	T	2: 76,562,304 (GRCm39)	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,297,484 (GRCm39)	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,362,952 (GRCm39)	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,720,235 (GRCm39)	N419D	probably damaging	Het
Vps35	T	C	8: 86,005,623 (GRCm39)	D326G	possibly damaging	Het
Xdh	A	G	17: 74,199,746 (GRCm39)	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,478,007 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,282 (GRCm39)	Y104H	probably 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
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
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'- GAGCCAGACTGCCTTCCTG -3'
(R):5'- ATTAGATGTGTGGTCAGGAATAAAC -3'

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

Posted On

2014-08-25