Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Telo2'

323516

Institutional Source

Beutler Lab

Gene Symbol

Telo2

Ensembl Gene

ENSMUSG00000024170

Gene Name

telomere maintenance 2

Synonyms

1200003M09Rik

MMRRC Submission

041087-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25318544-25334941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25334230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 6 (S6T)

Ref Sequence

ENSEMBL: ENSMUSP00000110835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024987] [ENSMUST00000115181]

AlphaFold

Q9DC40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024987
AA Change: S6T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: S6T

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115181
AA Change: S6T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: S6T

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155607

Meta Mutation Damage Score

0.1178

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Sco1	A	T	11: 66,946,626 (GRCm39)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
Spata18	T	C	5: 73,824,245 (GRCm39)	I156T	probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Tnfrsf11b	T	C	15: 54,115,491 (GRCm39)	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Xrcc5	T	C	1: 72,433,879 (GRCm39)	*733Q	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		probably null	Het

Other mutations in Telo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Telo2	APN	17	25,319,103 (GRCm39)	splice site	probably benign
IGL01398:Telo2	APN	17	25,324,748 (GRCm39)	missense	probably benign	0.00
IGL01878:Telo2	APN	17	25,320,332 (GRCm39)	missense	probably benign	0.19
IGL02728:Telo2	APN	17	25,323,628 (GRCm39)	missense	probably damaging	1.00
R0669:Telo2	UTSW	17	25,324,797 (GRCm39)	missense	probably benign	0.01
R0671:Telo2	UTSW	17	25,332,139 (GRCm39)	missense	probably benign	0.00
R1783:Telo2	UTSW	17	25,321,712 (GRCm39)	splice site	probably null
R1869:Telo2	UTSW	17	25,333,968 (GRCm39)	missense	probably benign	0.32
R1988:Telo2	UTSW	17	25,320,642 (GRCm39)	missense	probably benign	0.04
R2018:Telo2	UTSW	17	25,324,382 (GRCm39)	missense	probably damaging	1.00
R2167:Telo2	UTSW	17	25,329,792 (GRCm39)	missense	probably benign
R2219:Telo2	UTSW	17	25,322,673 (GRCm39)	missense	probably benign	0.00
R3421:Telo2	UTSW	17	25,329,726 (GRCm39)	missense	probably damaging	0.99
R3880:Telo2	UTSW	17	25,325,807 (GRCm39)	missense	probably damaging	1.00
R4190:Telo2	UTSW	17	25,320,987 (GRCm39)	missense	probably benign	0.00
R4574:Telo2	UTSW	17	25,320,647 (GRCm39)	missense	probably damaging	1.00
R4600:Telo2	UTSW	17	25,324,122 (GRCm39)	missense	possibly damaging	0.79
R6010:Telo2	UTSW	17	25,323,852 (GRCm39)	missense	possibly damaging	0.79
R6185:Telo2	UTSW	17	25,321,014 (GRCm39)	missense	probably benign	0.29
R6513:Telo2	UTSW	17	25,320,386 (GRCm39)	missense	probably damaging	1.00
R7352:Telo2	UTSW	17	25,321,043 (GRCm39)	missense	probably damaging	1.00
R7538:Telo2	UTSW	17	25,329,795 (GRCm39)	missense	probably benign	0.08
R8347:Telo2	UTSW	17	25,323,611 (GRCm39)	nonsense	probably null
R8754:Telo2	UTSW	17	25,321,041 (GRCm39)	missense	probably damaging	1.00
R8948:Telo2	UTSW	17	25,332,085 (GRCm39)	missense	probably benign	0.00
R8987:Telo2	UTSW	17	25,324,402 (GRCm39)	missense	probably damaging	1.00
R9096:Telo2	UTSW	17	25,324,066 (GRCm39)	missense	probably benign	0.01
R9097:Telo2	UTSW	17	25,324,066 (GRCm39)	missense	probably benign	0.01
R9564:Telo2	UTSW	17	25,334,199 (GRCm39)	missense	probably benign	0.04
R9565:Telo2	UTSW	17	25,334,199 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GACATCTAAGGACGGCTGAG -3'
(R):5'- GAAGCTCTGTCAGATCATCGGG -3'

Sequencing Primer
(F):5'- GAAGTGGACAGTGGCAAACTCC -3'
(R):5'- TGTCAGATCATCGGGCAGGC -3'

Posted On

2015-06-20