Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02930:Timeless'

364047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timeless

Ensembl Gene

ENSMUSG00000039994

Gene Name

timeless circadian clock 1

Synonyms

tim

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

128232065-128252941 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128247191 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 632 (V632A)

Ref Sequence

ENSEMBL: ENSMUSP00000100879 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055539
AA Change: V632A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000058021
Gene: ENSMUSG00000039994
AA Change: V632A

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: V632A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100876
Gene: ENSMUSG00000039994
AA Change: V632A

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: V632A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100878
Gene: ENSMUSG00000039994
AA Change: V632A

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: V632A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100879
Gene: ENSMUSG00000039994
AA Change: V632A

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: ENSMUST00000135376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146945

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,226	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,434,099	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,433,982	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,550,325	I478T	possibly damaging	Het
Cabs1	A	G	5: 87,979,886	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,825,494	E475G	probably damaging	Het
Cmtm2b	A	C	8: 104,329,770	M104L	probably benign	Het
Cops2	T	C	2: 125,832,189		probably benign	Het
Dnajc4	C	A	19: 6,989,433	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,483,240	N267D	probably damaging	Het
Elobl	T	G	11: 88,965,186	D17A	possibly damaging	Het
Erich6	G	A	3: 58,622,354		probably benign	Het
Flna	G	A	X: 74,223,900	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,310,990		probably benign	Het
Gpc1	G	T	1: 92,857,299	E355*	probably null	Het
Islr	C	T	9: 58,158,200		probably benign	Het
Mex3a	A	T	3: 88,536,225	I203L	probably benign	Het
Olfr482	A	T	7: 108,095,414	I52N	probably damaging	Het
Olfr794	T	C	10: 129,571,315	I220T	probably damaging	Het
Olfr938	G	T	9: 39,078,012	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,373,474	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,359,052	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,149,774	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,123,217	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,417,161	T382A	possibly damaging	Het
Tbx21	A	G	11: 97,100,039	I271T	probably damaging	Het
Tle3	A	G	9: 61,394,699	N67S	possibly damaging	Het
Tln2	G	A	9: 67,393,662	R95*	probably null	Het
Trim24	A	G	6: 37,951,445		probably benign	Het
Uggt1	A	T	1: 36,157,456	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,036,594	K210R	probably benign	Het

Other mutations in Timeless

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Timeless	APN	10	128241708	missense	probably damaging	1.00
IGL02157:Timeless	APN	10	128242386	missense	probably benign	0.01
IGL02300:Timeless	APN	10	128244807	missense	probably benign	0.00
IGL02587:Timeless	APN	10	128239916	missense	probably damaging	0.99
IGL02588:Timeless	APN	10	128243334	missense	probably damaging	1.00
IGL02892:Timeless	APN	10	128244251	missense	probably damaging	1.00
IGL02986:Timeless	APN	10	128249760	missense	possibly damaging	0.82
IGL03345:Timeless	APN	10	128247586	missense	probably benign	0.04
IGL03393:Timeless	APN	10	128252055	missense	probably damaging	1.00
R0388:Timeless	UTSW	10	128241425	splice site	probably null
R0607:Timeless	UTSW	10	128246334	missense	probably benign
R0638:Timeless	UTSW	10	128244673	nonsense	probably null
R0734:Timeless	UTSW	10	128250060	missense	probably damaging	1.00
R1346:Timeless	UTSW	10	128242365	missense	possibly damaging	0.83
R1625:Timeless	UTSW	10	128240624	missense	probably damaging	0.99
R1771:Timeless	UTSW	10	128247608	missense	probably benign	0.11
R1860:Timeless	UTSW	10	128246114	missense	probably benign	0.00
R1920:Timeless	UTSW	10	128241714	missense	probably damaging	1.00
R1988:Timeless	UTSW	10	128244187	missense	probably damaging	0.98
R2981:Timeless	UTSW	10	128248458	missense	probably benign	0.34
R4359:Timeless	UTSW	10	128247342	missense	probably benign	0.00
R4647:Timeless	UTSW	10	128239956	missense	possibly damaging	0.80
R4753:Timeless	UTSW	10	128240020	utr 5 prime	probably benign
R4868:Timeless	UTSW	10	128247361	missense	probably benign
R4901:Timeless	UTSW	10	128250762	missense	probably damaging	1.00
R4956:Timeless	UTSW	10	128241651	missense	probably damaging	1.00
R5341:Timeless	UTSW	10	128247178	missense	possibly damaging	0.81
R5439:Timeless	UTSW	10	128241735	missense	probably damaging	1.00
R5585:Timeless	UTSW	10	128240243	missense	probably damaging	0.97
R5842:Timeless	UTSW	10	128247459	critical splice donor site	probably null
R5843:Timeless	UTSW	10	128244244	splice site	probably null
R6005:Timeless	UTSW	10	128244200	missense	probably damaging	0.99
R6271:Timeless	UTSW	10	128250724	missense	probably damaging	1.00
R6558:Timeless	UTSW	10	128249563	missense	probably benign	0.01
R6694:Timeless	UTSW	10	128239999	critical splice donor site	probably null
R6738:Timeless	UTSW	10	128240635	missense	probably damaging	1.00
R6760:Timeless	UTSW	10	128246117	missense	probably benign	0.38
R7213:Timeless	UTSW	10	128243289	missense	probably benign
R7248:Timeless	UTSW	10	128252001	missense	probably benign
R7345:Timeless	UTSW	10	128249754	missense	probably damaging	1.00
R7463:Timeless	UTSW	10	128250426	missense	probably benign	0.00
R7513:Timeless	UTSW	10	128249530	missense	probably damaging	0.99
R7574:Timeless	UTSW	10	128244669	missense	probably damaging	1.00
R8220:Timeless	UTSW	10	128246396	missense	probably damaging	0.98
R8418:Timeless	UTSW	10	128250736	missense	probably benign	0.02
X0028:Timeless	UTSW	10	128250325	missense	probably benign	0.01

Posted On

2015-12-18