Mutagenetix > Incidental Mutation

Incidental Mutation 'R1771:Timeless'

196609

Institutional Source

Beutler Lab

Gene Symbol

Timeless

Ensembl Gene

ENSMUSG00000039994

Gene Name

timeless circadian clock 1

Synonyms

tim

MMRRC Submission

039802-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128067934-128088810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128083477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 702 (V702G)

Ref Sequence

ENSEMBL: ENSMUSP00000100879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055539] [ENSMUST00000105242] [ENSMUST00000105243] [ENSMUST00000105244] [ENSMUST00000105245]

AlphaFold

Q9R1X4

Predicted Effect

probably benign
Transcript: ENSMUST00000055539
AA Change: V702G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058021
Gene: ENSMUSG00000039994
AA Change: V702G

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.2e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1197	1.9e-186	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105240

Predicted Effect

probably benign
Transcript: ENSMUST00000105242
AA Change: V702G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100876
Gene: ENSMUSG00000039994
AA Change: V702G

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.1e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	4.4e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105243

SMART Domains

Protein: ENSMUSP00000100877
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	7.8e-104	PFAM
low complexity region	381	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105244
AA Change: V702G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100878
Gene: ENSMUSG00000039994
AA Change: V702G

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.3e-103	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	5e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105245
AA Change: V702G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100879
Gene: ENSMUSG00000039994
AA Change: V702G

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	24	284	1.1e-81	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1197	1.9e-186	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145710

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,773,061 (GRCm39)	S642P	probably damaging	Het
Adam30	T	C	3: 98,068,835 (GRCm39)	S95P	possibly damaging	Het
Ahnak	G	A	19: 8,991,117 (GRCm39)	V4134I	probably benign	Het
Ankrd13a	T	C	5: 114,941,649 (GRCm39)	V512A	probably benign	Het
Asph	A	T	4: 9,598,773 (GRCm39)	S149R	probably damaging	Het
Atp2b4	C	A	1: 133,660,131 (GRCm39)	V384L	probably damaging	Het
Atp8a1	A	G	5: 67,805,074 (GRCm39)	W1014R	probably damaging	Het
Cand1	A	C	10: 119,044,211 (GRCm39)	N1054K	probably benign	Het
Car15	A	T	16: 17,654,730 (GRCm39)	V96E	probably damaging	Het
Cd1d1	T	C	3: 86,905,972 (GRCm39)	E101G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam1	T	A	7: 25,171,469 (GRCm39)	T332S	probably benign	Het
Clca3a2	A	T	3: 144,787,171 (GRCm39)	V500E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dennd3	A	G	15: 73,426,950 (GRCm39)	T776A	possibly damaging	Het
Dennd5a	T	C	7: 109,517,893 (GRCm39)	D581G	probably damaging	Het
Dgkh	A	G	14: 78,846,967 (GRCm39)	V371A	probably damaging	Het
Dhcr24	A	G	4: 106,435,450 (GRCm39)	T314A	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Disp2	C	T	2: 118,621,778 (GRCm39)	Q837*	probably null	Het
Dusp3	A	T	11: 101,875,561 (GRCm39)	M1K	probably null	Het
Ecpas	A	G	4: 58,879,100 (GRCm39)	I63T	probably damaging	Het
Eddm13	G	T	7: 6,280,541 (GRCm39)		probably null	Het
Erich3	A	C	3: 154,454,109 (GRCm39)	D625A	possibly damaging	Het
Fat2	G	A	11: 55,201,691 (GRCm39)	S461L	probably benign	Het
Fmn2	A	G	1: 174,436,342 (GRCm39)		probably benign	Het
Foxi1	A	G	11: 34,157,594 (GRCm39)	Y144H	probably damaging	Het
Ftcd	G	A	10: 76,423,202 (GRCm39)	V458M	probably damaging	Het
Gm3604	C	A	13: 62,517,888 (GRCm39)	G157*	probably null	Het
Gnpda1	C	T	18: 38,466,380 (GRCm39)	R79Q	probably benign	Het
Gpr65	T	A	12: 98,242,259 (GRCm39)	I304K	probably damaging	Het
Grem1	T	C	2: 113,580,021 (GRCm39)	E160G	probably benign	Het
Gria2	T	A	3: 80,599,608 (GRCm39)	K759*	probably null	Het
Gsg1l	A	G	7: 125,557,745 (GRCm39)	S128P	probably damaging	Het
Hdac1	A	T	4: 129,415,221 (GRCm39)	I240N	probably damaging	Het
Hic2	C	T	16: 17,076,578 (GRCm39)	T469M	probably benign	Het
Hoxc10	A	C	15: 102,875,522 (GRCm39)	D77A	probably damaging	Het
Itprid1	T	C	6: 55,875,132 (GRCm39)	S361P	probably benign	Het
Klhl14	T	A	18: 21,784,677 (GRCm39)	H250L	probably damaging	Het
Klk1b24	A	G	7: 43,837,653 (GRCm39)		probably null	Het
Letm1	T	A	5: 33,926,811 (GRCm39)	H162L	probably damaging	Het
Loxl3	A	T	6: 83,026,890 (GRCm39)	Y573F	probably damaging	Het
Macf1	A	T	4: 123,405,901 (GRCm39)	I330N	probably damaging	Het
Mchr1	T	A	15: 81,121,436 (GRCm39)	I62N	probably damaging	Het
Mcm8	C	T	2: 132,685,476 (GRCm39)	Q803*	probably null	Het
Msh3	T	G	13: 92,349,004 (GRCm39)	D1075A	probably benign	Het
Msh6	T	A	17: 88,291,950 (GRCm39)	V235D	probably benign	Het
Mthfd2l	A	T	5: 91,122,254 (GRCm39)	D253V	probably damaging	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Muc20	A	T	16: 32,614,222 (GRCm39)	I385N	probably damaging	Het
Myo6	G	T	9: 80,193,082 (GRCm39)	C829F	probably damaging	Het
Nbea	T	C	3: 55,841,940 (GRCm39)	I1914V	probably benign	Het
Ncor1	T	C	11: 62,217,938 (GRCm39)	E1462G	probably damaging	Het
Necab1	A	G	4: 15,111,267 (GRCm39)	Y54H	probably damaging	Het
Nlrp4b	A	G	7: 10,452,520 (GRCm39)	K15R	probably damaging	Het
Ntrk1	A	G	3: 87,696,937 (GRCm39)	S139P	probably benign	Het
Oas1d	T	C	5: 121,053,900 (GRCm39)	F120S	probably damaging	Het
Ofd1	A	G	X: 165,189,002 (GRCm39)	Y755H	probably benign	Het
Or10al2	A	G	17: 37,983,554 (GRCm39)	I213M	probably damaging	Het
Or13a25	A	G	7: 140,248,048 (GRCm39)	T276A	probably benign	Het
Or4f47	T	G	2: 111,973,065 (GRCm39)	Y258*	probably null	Het
Or5c1	T	A	2: 37,222,430 (GRCm39)	F224I	probably benign	Het
Or5p58	A	C	7: 107,694,816 (GRCm39)		probably null	Het
Or9s27	A	G	1: 92,516,837 (GRCm39)	I262V	probably benign	Het
Plekha6	T	C	1: 133,201,651 (GRCm39)	S355P	probably benign	Het
Prdm14	T	C	1: 13,189,082 (GRCm39)	K421E	probably damaging	Het
Prss36	A	G	7: 127,532,625 (GRCm39)	L731P	probably damaging	Het
Rad51d	A	G	11: 82,774,764 (GRCm39)	L97P	probably damaging	Het
Rbl1	C	A	2: 157,005,454 (GRCm39)		probably null	Het
Rnh1	G	T	7: 140,744,519 (GRCm39)	A52D	possibly damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Ryr2	A	C	13: 11,760,062 (GRCm39)		probably null	Het
Samd4	A	T	14: 47,326,532 (GRCm39)	N454I	probably damaging	Het
Sap130	T	C	18: 31,769,135 (GRCm39)	I32T	probably benign	Het
Sap30l	A	T	11: 57,696,925 (GRCm39)	N85I	probably damaging	Het
Sbf2	G	A	7: 110,060,353 (GRCm39)	Q204*	probably null	Het
Slc45a3	T	C	1: 131,904,694 (GRCm39)	W6R	possibly damaging	Het
Snx16	A	G	3: 10,484,221 (GRCm39)	V334A	probably damaging	Het
Soat1	C	T	1: 156,269,991 (GRCm39)	V143I	probably benign	Het
Sp8	T	A	12: 118,813,302 (GRCm39)	F386I	probably damaging	Het
Spag6	C	T	2: 18,738,928 (GRCm39)	S286L	probably benign	Het
Srpra	A	T	9: 35,124,147 (GRCm39)	N31I	possibly damaging	Het
Ssbp4	A	G	8: 71,051,502 (GRCm39)		probably null	Het
Stxbp2	G	T	8: 3,684,064 (GRCm39)	A124S	probably benign	Het
Tacc2	A	G	7: 130,343,970 (GRCm39)	K700R	probably damaging	Het
Tatdn2	A	T	6: 113,679,060 (GRCm39)		probably null	Het
Tecrl	G	A	5: 83,439,134 (GRCm39)	T226I	probably damaging	Het
Tjp1	A	T	7: 64,962,753 (GRCm39)	S1061R	probably benign	Het
Tmem39b	A	T	4: 129,587,011 (GRCm39)	C67S	probably damaging	Het
Tstd3	T	C	4: 21,759,475 (GRCm39)	Y99C	probably damaging	Het
Ttc39c	T	A	18: 12,817,881 (GRCm39)		probably null	Het
Ttll7	C	T	3: 146,600,160 (GRCm39)	P23S	probably benign	Het
Uba5	A	G	9: 103,927,107 (GRCm39)	F290S	probably damaging	Het
Ubap2l	T	C	3: 89,926,538 (GRCm39)	Y623C	probably damaging	Het
Ube3a	A	G	7: 58,925,714 (GRCm39)	E164G	probably damaging	Het
Ugcg	A	G	4: 59,207,775 (GRCm39)	N38S	probably benign	Het
Ugp2	G	A	11: 21,279,915 (GRCm39)	T283I	probably damaging	Het
Vmn1r55	A	T	7: 5,149,919 (GRCm39)	I168N	probably benign	Het
Wdr27	A	C	17: 15,112,703 (GRCm39)	S668A	probably damaging	Het
Wnt2	T	A	6: 18,008,696 (GRCm39)	N247I	probably damaging	Het
Zfp850	A	T	7: 27,684,700 (GRCm39)	C15*	probably null	Het
Zfp959	A	G	17: 56,204,677 (GRCm39)		probably null	Het

Other mutations in Timeless

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Timeless	APN	10	128,077,577 (GRCm39)	missense	probably damaging	1.00
IGL02157:Timeless	APN	10	128,078,255 (GRCm39)	missense	probably benign	0.01
IGL02300:Timeless	APN	10	128,080,676 (GRCm39)	missense	probably benign	0.00
IGL02587:Timeless	APN	10	128,075,785 (GRCm39)	missense	probably damaging	0.99
IGL02588:Timeless	APN	10	128,079,203 (GRCm39)	missense	probably damaging	1.00
IGL02892:Timeless	APN	10	128,080,120 (GRCm39)	missense	probably damaging	1.00
IGL02930:Timeless	APN	10	128,083,060 (GRCm39)	missense	probably benign	0.00
IGL02986:Timeless	APN	10	128,085,629 (GRCm39)	missense	possibly damaging	0.82
IGL03345:Timeless	APN	10	128,083,455 (GRCm39)	missense	probably benign	0.04
IGL03393:Timeless	APN	10	128,087,924 (GRCm39)	missense	probably damaging	1.00
R0388:Timeless	UTSW	10	128,077,294 (GRCm39)	splice site	probably null
R0607:Timeless	UTSW	10	128,082,203 (GRCm39)	missense	probably benign
R0638:Timeless	UTSW	10	128,080,542 (GRCm39)	nonsense	probably null
R0734:Timeless	UTSW	10	128,085,929 (GRCm39)	missense	probably damaging	1.00
R1346:Timeless	UTSW	10	128,078,234 (GRCm39)	missense	possibly damaging	0.83
R1625:Timeless	UTSW	10	128,076,493 (GRCm39)	missense	probably damaging	0.99
R1860:Timeless	UTSW	10	128,081,983 (GRCm39)	missense	probably benign	0.00
R1920:Timeless	UTSW	10	128,077,583 (GRCm39)	missense	probably damaging	1.00
R1988:Timeless	UTSW	10	128,080,056 (GRCm39)	missense	probably damaging	0.98
R2981:Timeless	UTSW	10	128,084,327 (GRCm39)	missense	probably benign	0.34
R4359:Timeless	UTSW	10	128,083,211 (GRCm39)	missense	probably benign	0.00
R4647:Timeless	UTSW	10	128,075,825 (GRCm39)	missense	possibly damaging	0.80
R4753:Timeless	UTSW	10	128,075,889 (GRCm39)	utr 5 prime	probably benign
R4868:Timeless	UTSW	10	128,083,230 (GRCm39)	missense	probably benign
R4901:Timeless	UTSW	10	128,086,631 (GRCm39)	missense	probably damaging	1.00
R4956:Timeless	UTSW	10	128,077,520 (GRCm39)	missense	probably damaging	1.00
R5341:Timeless	UTSW	10	128,083,047 (GRCm39)	missense	possibly damaging	0.81
R5439:Timeless	UTSW	10	128,077,604 (GRCm39)	missense	probably damaging	1.00
R5585:Timeless	UTSW	10	128,076,112 (GRCm39)	missense	probably damaging	0.97
R5842:Timeless	UTSW	10	128,083,328 (GRCm39)	critical splice donor site	probably null
R5843:Timeless	UTSW	10	128,080,113 (GRCm39)	splice site	probably null
R6005:Timeless	UTSW	10	128,080,069 (GRCm39)	missense	probably damaging	0.99
R6271:Timeless	UTSW	10	128,086,593 (GRCm39)	missense	probably damaging	1.00
R6558:Timeless	UTSW	10	128,085,432 (GRCm39)	missense	probably benign	0.01
R6694:Timeless	UTSW	10	128,075,868 (GRCm39)	critical splice donor site	probably null
R6738:Timeless	UTSW	10	128,076,504 (GRCm39)	missense	probably damaging	1.00
R6760:Timeless	UTSW	10	128,081,986 (GRCm39)	missense	probably benign	0.38
R7213:Timeless	UTSW	10	128,079,158 (GRCm39)	missense	probably benign
R7248:Timeless	UTSW	10	128,087,870 (GRCm39)	missense	probably benign
R7345:Timeless	UTSW	10	128,085,623 (GRCm39)	missense	probably damaging	1.00
R7463:Timeless	UTSW	10	128,086,295 (GRCm39)	missense	probably benign	0.00
R7513:Timeless	UTSW	10	128,085,399 (GRCm39)	missense	probably damaging	0.99
R7574:Timeless	UTSW	10	128,080,538 (GRCm39)	missense	probably damaging	1.00
R8220:Timeless	UTSW	10	128,082,265 (GRCm39)	missense	probably damaging	0.98
R8418:Timeless	UTSW	10	128,086,605 (GRCm39)	missense	probably benign	0.02
R8742:Timeless	UTSW	10	128,083,107 (GRCm39)	missense	probably benign	0.00
R8765:Timeless	UTSW	10	128,080,412 (GRCm39)	critical splice donor site	probably null
R9508:Timeless	UTSW	10	128,076,096 (GRCm39)	missense	probably benign	0.01
X0028:Timeless	UTSW	10	128,086,194 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTCCTGATTGCAACTCCAGTTTCC -3'
(R):5'- GGTCACTAAGCAGCCGATTGAAGAG -3'

Sequencing Primer
(F):5'- agaggaggaagaggaagagg -3'
(R):5'- GCCGATTGAAGAGGCAGAAC -3'

Posted On

2014-05-23