Mutagenetix > Incidental Mutation

Incidental Mutation 'R7538:Telo2'

583755

Institutional Source

Beutler Lab

Gene Symbol

Telo2

Ensembl Gene

ENSMUSG00000024170

Gene Name

telomere maintenance 2

Synonyms

1200003M09Rik

MMRRC Submission

045610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25318544-25334941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25329795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 239 (T239K)

Ref Sequence

ENSEMBL: ENSMUSP00000024987 (fasta)

Gene Model

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

AlphaFold

Q9DC40

PDB Structure

PIH1 N-terminal domain [X-RAY DIFFRACTION]
PIH N-terminal domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000024987
AA Change: T239K

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: T239K

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

probably benign
Transcript: ENSMUST00000115181
AA Change: T239K

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: T239K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,864,766 (GRCm39)	P419H	probably damaging	Het
Adgra3	C	T	5: 50,118,792 (GRCm39)	V919I	probably benign	Het
Akap12	G	A	10: 4,303,213 (GRCm39)	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,513,043 (GRCm39)	I113K	probably benign	Het
Alx3	A	T	3: 107,511,680 (GRCm39)	I230F	probably damaging	Het
Apob	A	T	12: 8,052,219 (GRCm39)	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,721,796 (GRCm39)	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,116,373 (GRCm39)	I907V	probably benign	Het
B4galnt3	G	T	6: 120,271,384 (GRCm39)	S46*	probably null	Het
Bfsp1	A	C	2: 143,673,755 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,302,291 (GRCm39)	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,413,370 (GRCm39)	H636L	probably benign	Het
Cfi	G	A	3: 129,652,464 (GRCm39)	R297H	probably benign	Het
Cherp	T	A	8: 73,216,263 (GRCm39)	Q749L		Het
Clec10a	A	G	11: 70,060,604 (GRCm39)	D153G	probably benign	Het
Cnga1	T	C	5: 72,769,723 (GRCm39)	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,162,002 (GRCm39)	V64D	probably damaging	Het
Dact3	T	A	7: 16,609,443 (GRCm39)	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,692,753 (GRCm39)	C88R	probably damaging	Het
Dock8	A	T	19: 25,135,782 (GRCm39)	D1200V	probably damaging	Het
Drosha	C	G	15: 12,926,329 (GRCm39)	S1262W	probably damaging	Het
Dtnb	T	C	12: 3,823,611 (GRCm39)	M592T	possibly damaging	Het
Eef2k	T	A	7: 120,491,215 (GRCm39)	V567E	probably benign	Het
Fem1b	A	G	9: 62,718,449 (GRCm39)	S47P	probably damaging	Het
Fryl	T	C	5: 73,180,019 (GRCm39)	E2864G	probably benign	Het
Fscn2	A	G	11: 120,258,152 (GRCm39)	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,818,894 (GRCm39)	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,603 (GRCm39)	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,686,742 (GRCm39)	G831D	probably damaging	Het
Hars1	A	T	18: 36,904,194 (GRCm39)	D228E	probably benign	Het
Hdhd5	T	C	6: 120,498,257 (GRCm39)	D114G	possibly damaging	Het
Kcna2	A	G	3: 107,011,884 (GRCm39)	Y155C	probably benign	Het
Klc1	A	G	12: 111,751,879 (GRCm39)	K441R	probably benign	Het
Kmt2a	A	G	9: 44,759,041 (GRCm39)	L936P	probably damaging	Het
Map3k6	T	C	4: 132,979,238 (GRCm39)	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,825,525 (GRCm39)	A349T	probably benign	Het
Mtmr7	G	A	8: 41,050,427 (GRCm39)	R123W	probably damaging	Het
Muc16	G	A	9: 18,566,747 (GRCm39)	T1924I	unknown	Het
Muc16	T	A	9: 18,553,427 (GRCm39)	I4289F	probably benign	Het
Mybpc3	A	C	2: 90,950,832 (GRCm39)	D220A	probably damaging	Het
Neb	A	T	2: 52,146,587 (GRCm39)		probably null	Het
Nectin2	A	G	7: 19,464,544 (GRCm39)	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,834,089 (GRCm39)	T114S	probably damaging	Het
Nol9	T	C	4: 152,124,115 (GRCm39)	S102P	probably benign	Het
Olfml2b	A	T	1: 170,477,402 (GRCm39)	K179I	possibly damaging	Het
Or4a80	G	T	2: 89,582,665 (GRCm39)	P169H	probably damaging	Het
Pcnt	T	C	10: 76,235,773 (GRCm39)	M1403V	probably benign	Het
Phf7	T	C	14: 30,960,386 (GRCm39)	D284G	probably benign	Het
Pias3	A	G	3: 96,609,534 (GRCm39)	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,283,558 (GRCm39)	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,825,914 (GRCm39)	T371S	probably damaging	Het
Prmt7	A	G	8: 106,964,018 (GRCm39)	D304G	probably benign	Het
Prpf6	T	C	2: 181,294,248 (GRCm39)	V818A	probably benign	Het
Pstpip2	A	G	18: 77,959,305 (GRCm39)	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,895 (GRCm39)	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,411 (GRCm39)	F70L	probably benign	Het
Rcor1	A	T	12: 111,034,271 (GRCm39)		probably null	Het
Rnasel	A	G	1: 153,630,306 (GRCm39)	K274R	probably benign	Het
Rsbn1l	G	A	5: 21,101,455 (GRCm39)	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema3a	T	C	5: 13,611,787 (GRCm39)	V351A	probably benign	Het
Serpina12	A	G	12: 104,004,587 (GRCm39)	L15P	unknown	Het
Siah1a	G	A	8: 87,451,840 (GRCm39)	R215C	probably benign	Het
Sin3a	T	A	9: 57,011,210 (GRCm39)	V489D	possibly damaging	Het
Slc22a17	A	G	14: 55,149,575 (GRCm39)	I208T	probably benign	Het
Slc36a4	G	A	9: 15,645,511 (GRCm39)	V313M	possibly damaging	Het
Sod1	T	A	16: 90,023,114 (GRCm39)	L145*	probably null	Het
Svep1	T	C	4: 58,053,260 (GRCm39)	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,946,602 (GRCm39)	L475P	probably damaging	Het
Trmt11	T	G	10: 30,436,870 (GRCm39)	D290A	probably damaging	Het
Trpc4	A	T	3: 54,225,516 (GRCm39)	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,603,101 (GRCm39)	N257S	probably benign	Het
Usp12	T	C	5: 146,731,430 (GRCm39)	T15A	probably benign	Het
Vars2	G	T	17: 35,971,672 (GRCm39)	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,310,677 (GRCm39)		probably null	Het
Zfp689	A	T	7: 127,044,010 (GRCm39)	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,134,432 (GRCm39)	E18*	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
R4299:Telo2	UTSW	17	25,334,230 (GRCm39)	missense	possibly damaging	0.94
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
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'- TAACAGCCAGCCTGGAAAGG -3'
(R):5'- CAGTGGGATCGCCTCATTTG -3'

Sequencing Primer
(F):5'- ATGGGCTCTAATGCGGCAC -3'
(R):5'- ATCGCCTCATTTGGGTCGGAC -3'

Posted On

2019-10-17