Mutagenetix > Incidental Mutations

Incidental Mutation 'R7491:Arntl'

580762

Institutional Source

Beutler Lab

Gene Symbol

Arntl

Ensembl Gene

ENSMUSG00000055116

Gene Name

aryl hydrocarbon receptor nuclear translocator-like

Synonyms

Bmal1, MOP3, bHLHe5, Arnt3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113207465-113314126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113299424 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 353 (V353A)

Ref Sequence

ENSEMBL: ENSMUSP00000046235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047321] [ENSMUST00000210074] [ENSMUST00000210238] [ENSMUST00000211770]

Predicted Effect

probably benign
Transcript: ENSMUST00000047321
AA Change: V353A

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046235
Gene: ENSMUSG00000055116
AA Change: V353A

Domain	Start	End	E-Value	Type
HLH	78	131	2.92e-16	SMART
PAS	146	213	4.41e-12	SMART
PAS	328	394	1.66e-7	SMART
PAC	401	444	2.92e-3	SMART
low complexity region	511	521	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210074
AA Change: V340A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000210238
AA Change: V353A

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211770
AA Change: V360A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with Clock. This heterodimer binds E-box enhancer elements upstream of Period (Per1, Per2, Per3) and Cryptochrome (Cry1, Cry2) genes and activates transcription of these genes. Per and Cry proteins heterodimerize and repress their own transcription by interacting in a feedback loop with Clock/Arntl complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,614,755		probably null	Het
5730522E02Rik	A	T	11: 25,769,014	V44E	unknown	Het
Adcy9	A	G	16: 4,418,809	L246S	possibly damaging	Het
Adk	C	T	14: 21,234,929	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,835,967	D41V	probably benign	Het
Ankib1	T	G	5: 3,701,911	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,328,377	V542D	probably benign	Het
Arhgef28	T	C	13: 97,944,686	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
Cacna1a	C	A	8: 84,559,293	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,613,343	M1559V		Het
Cdh10	G	C	15: 19,013,359	E682Q	probably damaging	Het
Celsr1	T	C	15: 86,032,518	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,470,748	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,813,579	S279P	probably damaging	Het
Col2a1	C	T	15: 97,976,159	V1449I	not run	Het
Cpt2	A	G	4: 107,907,142	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,393,567	T502A	probably benign	Het
Creb3l2	G	T	6: 37,379,859	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,142,666	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,072,379	V246F	probably damaging	Het
Dse	A	G	10: 34,152,565	V843A	probably benign	Het
Ern2	C	A	7: 122,170,533	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,600,432	D906N	probably damaging	Het
Fry	A	G	5: 150,466,326	E140G		Het
Galnt7	A	G	8: 57,552,518	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,413,901	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm826	A	T	2: 160,312,022	S34T	unknown	Het
Gzmk	A	T	13: 113,172,001	I222N	probably benign	Het
Hivep3	A	T	4: 120,098,830	T1448S	probably benign	Het
Hk1	T	C	10: 62,295,745	D278G	probably damaging	Het
Ipo7	C	A	7: 110,039,194	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,769,111	I571N	probably damaging	Het
Itgb6	T	C	2: 60,620,376	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,284,564	H4459L	probably damaging	Het
Limch1	T	G	5: 67,054,237	S894R	probably damaging	Het
Lrit2	A	T	14: 37,068,910	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,939,378	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,399,417	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,410,266	V134A	possibly damaging	Het
Nae1	A	T	8: 104,518,239	D353E	probably benign	Het
Naip5	A	C	13: 100,217,071	F1227V	probably benign	Het
Nln	A	T	13: 104,069,323	F108I	probably damaging	Het
Nop16	C	T	13: 54,588,604	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,374,903	T150S	probably benign	Het
Olfr960	T	G	9: 39,623,972	I281S	possibly damaging	Het
Pcdha4	T	C	18: 36,954,636	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,430	I513T	probably benign	Het
Prc1	A	T	7: 80,309,491		probably null	Het
Prpf4	T	A	4: 62,417,876	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,133,155	E43G	probably benign	Het
Pum1	T	A	4: 130,719,174	D181E	probably benign	Het
Rab7	A	G	6: 88,013,642	S17P	probably damaging	Het
Rgs1	T	C	1: 144,245,396	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,454,557	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528	L1484Q	probably damaging	Het
Sall3	C	T	18: 80,972,705	M669I	probably benign	Het
Saxo1	A	C	4: 86,445,407	F280V	probably benign	Het
Scn2a	T	C	2: 65,702,008	S655P	probably damaging	Het
Senp6	G	T	9: 80,123,728	E571*	probably null	Het
Sin3b	C	G	8: 72,746,441	T463S	probably damaging	Het
Sirt7	C	A	11: 120,619,011	R349L	probably benign	Het
Skor1	T	C	9: 63,146,448	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,052,822	R310*	probably null	Het
Slco6c1	A	T	1: 97,127,854	H107Q	probably benign	Het
Slit2	A	G	5: 48,219,994	E455G	probably benign	Het
Smo	G	C	6: 29,736,120	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,769,184	K101R	probably benign	Het
Stat1	C	A	1: 52,152,371	N628K	probably benign	Het
Syn2	A	T	6: 115,254,654	Y302F	probably benign	Het
Tapt1	T	G	5: 44,188,636	Q324P	probably damaging	Het
Tcrg-V3	T	A	13: 19,242,846	M1K	probably null	Het
Tgoln1	C	T	6: 72,616,420	A26T	unknown	Het
Timm13	T	A	10: 80,900,544	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,005,205	P77S	possibly damaging	Het
Trem3	T	G	17: 48,257,941	F157V	probably benign	Het
Trim33	T	A	3: 103,326,148	S420T	probably benign	Het
Trip11	T	C	12: 101,885,435	K790R	probably damaging	Het
Trnt1	A	G	6: 106,778,904	T307A	probably benign	Het
Tshz1	T	C	18: 84,015,641	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,228,565	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,481,343	Y488H	probably benign	Het
Vwa8	A	T	14: 79,082,814	K1088N	probably benign	Het
Wdr35	T	C	12: 8,986,000	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569	S3T	probably benign	Het
Zscan22	G	A	7: 12,906,906	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,517,885	R283*	probably null	Het

Other mutations in Arntl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Arntl	APN	7	113303407	missense	probably damaging	0.99
diet	UTSW	7	113285031	missense	probably damaging	1.00
R0308:Arntl	UTSW	7	113291536	missense	probably damaging	1.00
R2039:Arntl	UTSW	7	113285112	missense	probably damaging	1.00
R3548:Arntl	UTSW	7	113313545	missense	probably damaging	1.00
R4355:Arntl	UTSW	7	113303406	missense	possibly damaging	0.46
R4718:Arntl	UTSW	7	113303361	missense	probably damaging	0.98
R4725:Arntl	UTSW	7	113304359	missense	possibly damaging	0.82
R4776:Arntl	UTSW	7	113285037	missense	probably damaging	1.00
R4920:Arntl	UTSW	7	113285114	missense	probably damaging	1.00
R4960:Arntl	UTSW	7	113299435	critical splice donor site	probably null
R4985:Arntl	UTSW	7	113285073	missense	probably damaging	1.00
R5640:Arntl	UTSW	7	113308681	missense	probably damaging	1.00
R5739:Arntl	UTSW	7	113285031	missense	probably damaging	1.00
R6004:Arntl	UTSW	7	113280727	missense	probably damaging	0.97
R7201:Arntl	UTSW	7	113285142	missense	probably damaging	1.00
R7214:Arntl	UTSW	7	113299403	missense	probably benign	0.44
R7218:Arntl	UTSW	7	113287183	missense	probably damaging	0.96
R7378:Arntl	UTSW	7	113299208	missense	probably benign	0.44
R7908:Arntl	UTSW	7	113313473	missense	probably benign
R7947:Arntl	UTSW	7	113287146	missense	probably damaging	1.00
R8260:Arntl	UTSW	7	113285051	missense	probably damaging	1.00
R8331:Arntl	UTSW	7	113313496	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGGACGAAGACAATGAGCC -3'
(R):5'- TCTTAGAAAAGCCAGCTGACC -3'

Sequencing Primer
(F):5'- CAGACAACGAGGGCTGC -3'
(R):5'- TAAATCCTCTGCCACAGTGG -3'

Posted On

2019-10-17