Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Telo2'

645333

Institutional Source

Beutler Lab

Gene Symbol

Telo2

Ensembl Gene

ENSMUSG00000024170

Gene Name

telomere maintenance 2

Synonyms

1200003M09Rik

MMRRC Submission

067867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25318544-25334941 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 25323611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 605 (Y605*)

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 null
Transcript: ENSMUST00000024987
AA Change: Y605*

SMART Domains

Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: Y605*

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 null
Transcript: ENSMUST00000115181
AA Change: Y605*

SMART Domains

Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: Y605*

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,561,153 (GRCm39)	I170L	probably benign	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Ankib1	A	G	5: 3,797,065 (GRCm39)	L249P	probably damaging	Het
Cabin1	A	G	10: 75,578,201 (GRCm39)	F499L	probably damaging	Het
Cdhr17	G	A	5: 17,006,572 (GRCm39)	M96I	probably benign	Het
Clec12b	C	T	6: 129,357,450 (GRCm39)		probably null	Het
Col23a1	G	A	11: 51,462,083 (GRCm39)	G373D	probably damaging	Het
Cse1l	C	T	2: 166,769,505 (GRCm39)	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,932,251 (GRCm39)	L330*	probably null	Het
Dbi	A	C	1: 120,048,550 (GRCm39)	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,065,025 (GRCm39)	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,812 (GRCm39)	M379I	possibly damaging	Het
Dpys	T	C	15: 39,720,709 (GRCm39)	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578 (GRCm39)	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,695,888 (GRCm39)	K457E	probably damaging	Het
Efs	A	G	14: 55,157,241 (GRCm39)	C357R	probably benign	Het
Egfr	T	A	11: 16,828,174 (GRCm39)	W516R	probably damaging	Het
Folh1	T	A	7: 86,378,326 (GRCm39)	R529*	probably null	Het
Fsip2	A	C	2: 82,818,198 (GRCm39)	I4644L	probably benign	Het
Garnl3	T	C	2: 32,975,903 (GRCm39)	Y66C	probably damaging	Het
Gli3	T	C	13: 15,898,110 (GRCm39)	L730P	probably damaging	Het
Gm19668	T	C	10: 77,634,221 (GRCm39)	*249W	probably null	Het
Ighv2-6-8	T	C	12: 113,759,947 (GRCm39)	D54G	probably benign	Het
Irs2	C	A	8: 11,058,000 (GRCm39)	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,761,048 (GRCm39)	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,648,575 (GRCm39)	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,759,507 (GRCm39)	Y69N	unknown	Het
Lcn12	A	C	2: 25,382,045 (GRCm39)	D176E	possibly damaging	Het
Lilrb4b	T	A	10: 51,357,850 (GRCm39)	F181L	probably damaging	Het
Med13l	T	A	5: 118,880,662 (GRCm39)	H1251Q	probably benign	Het
Nppb	C	A	4: 148,070,756 (GRCm39)	L44M	probably damaging	Het
Nutm2	T	C	13: 50,626,373 (GRCm39)	V320A	probably benign	Het
Or4b1b	A	T	2: 90,112,020 (GRCm39)	W300R	probably benign	Het
Or52a24	A	G	7: 103,381,150 (GRCm39)	S6G	probably benign	Het
Or5ae2	C	T	7: 84,505,963 (GRCm39)	P131S	probably damaging	Het
Or5ak4	T	A	2: 85,162,047 (GRCm39)	H65L	probably damaging	Het
Padi6	T	C	4: 140,462,719 (GRCm39)	M301V	probably benign	Het
Pappa	G	A	4: 65,245,302 (GRCm39)	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,034,277 (GRCm39)	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,281,575 (GRCm39)		probably benign	Het
Phip	A	G	9: 82,790,816 (GRCm39)	I710T	probably benign	Het
Pla2r1	A	T	2: 60,365,247 (GRCm39)	Y108N	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Rint1	C	G	5: 24,016,770 (GRCm39)	L512V	probably damaging	Het
Sdad1	A	C	5: 92,446,088 (GRCm39)	F282L	probably benign	Het
Sirt5	G	T	13: 43,533,977 (GRCm39)	A189S	probably benign	Het
Slc14a1	T	C	18: 78,154,646 (GRCm39)	T247A	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slfn3	A	G	11: 83,104,415 (GRCm39)	K429E	possibly damaging	Het
Spag17	T	C	3: 99,934,957 (GRCm39)	F721S	probably benign	Het
Spata31d1e	T	A	13: 59,890,050 (GRCm39)	D590V	possibly damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Sult2a6	A	G	7: 13,959,883 (GRCm39)	Y217H	probably benign	Het
Synj2	A	G	17: 6,060,060 (GRCm39)	N394S	probably damaging	Het
Trank1	T	A	9: 111,196,317 (GRCm39)	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,141,446 (GRCm39)	L690P	probably damaging	Het
Trmt13	T	C	3: 116,376,417 (GRCm39)	T325A	probably benign	Het
Ttn	T	A	2: 76,539,811 (GRCm39)	T34392S	probably benign	Het
Uncx	A	G	5: 139,532,571 (GRCm39)	E212G	probably damaging	Het
Ush2a	A	G	1: 188,679,281 (GRCm39)	T4830A	probably benign	Het
Usp34	C	A	11: 23,362,345 (GRCm39)	T1616N		Het
Vars1	C	T	17: 35,234,953 (GRCm39)	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,020 (GRCm39)	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,917,423 (GRCm39)	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,064,838 (GRCm39)	M16K	probably benign	Het
Wdr62	G	A	7: 29,962,128 (GRCm39)	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,053,374 (GRCm39)	L129Q	probably benign	Het
Zfp423	T	C	8: 88,509,784 (GRCm39)	R187G	probably damaging	Het
Zfp853	A	T	5: 143,274,702 (GRCm39)	L321Q	unknown	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
R7538:Telo2	UTSW	17	25,329,795 (GRCm39)	missense	probably benign	0.08
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'- AAAGACTTCTCTGCCAGCCTG -3'
(R):5'- CTGGTAGCTGTTACAGTCACAGAC -3'

Sequencing Primer
(F):5'- CAGCCTGGTGAGCCTATGATTG -3'
(R):5'- TGTTACAGTCACAGACCCGGAG -3'

Posted On

2020-09-02