Mutagenetix > Incidental Mutation

Incidental Mutation 'R9052:Tgs1'

688434

Institutional Source

Beutler Lab

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, D4Ertd800e, Pimt

MMRRC Submission

068878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3585166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 102 (M102K)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052712]

AlphaFold

Q923W1

Predicted Effect

probably benign
Transcript: ENSMUST00000052712
AA Change: M102K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: M102K

Domain	Start	End	E-Value	Type
low complexity region	113	130	N/A	INTRINSIC
low complexity region	145	159	N/A	INTRINSIC
low complexity region	611	624	N/A	INTRINSIC
Pfam:Met_10	661	798	3.4e-8	PFAM
Pfam:UPF0020	667	761	4.7e-7	PFAM
Pfam:Methyltransf_18	682	819	3.7e-9	PFAM
Pfam:Methyltransf_31	683	811	4.2e-10	PFAM
Pfam:Methyltransf_15	683	837	9.1e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display complete lethality around implantation with embryonic growth arrest, impaired hatching from the zona pellucida, and increased apoptosis. Null MEFs display G2 arrest. [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
1110059G10Rik	T	C	9: 122,778,031 (GRCm39)	E71G	probably damaging	Het
2610021A01Rik	G	T	7: 41,275,449 (GRCm39)	G384V	probably benign	Het
4931406B18Rik	T	A	7: 43,147,631 (GRCm39)	R247*	probably null	Het
Abca4	G	T	3: 121,940,908 (GRCm39)	V1576F	possibly damaging	Het
Acsl6	A	T	11: 54,232,615 (GRCm39)	T489S	possibly damaging	Het
Adcy8	C	T	15: 64,792,764 (GRCm39)	R64H	probably benign	Het
Atad2b	C	A	12: 5,015,982 (GRCm39)	F569L	probably damaging	Het
Atp2c1	A	T	9: 105,330,032 (GRCm39)	I266N	probably damaging	Het
Atp8a1	A	G	5: 67,936,301 (GRCm39)		probably null	Het
Coch	T	C	12: 51,640,408 (GRCm39)	M1T	probably null	Het
Col5a3	C	A	9: 20,710,733 (GRCm39)	R537L	unknown	Het
Crb1	C	T	1: 139,171,161 (GRCm39)	R743Q	possibly damaging	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Cyp4f15	C	T	17: 32,911,589 (GRCm39)	T157I	probably damaging	Het
D630045J12Rik	G	T	6: 38,154,544 (GRCm39)	Q1212K	probably damaging	Het
Dennd1a	A	G	2: 37,911,463 (GRCm39)	Y175H	probably damaging	Het
Dhcr7	C	A	7: 143,395,060 (GRCm39)	T192K	possibly damaging	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dmpk	G	A	7: 18,821,614 (GRCm39)	V291M	probably damaging	Het
Dnajc6	T	C	4: 101,496,617 (GRCm39)	V928A	probably damaging	Het
Dst	A	G	1: 34,206,045 (GRCm39)	Y859C	probably damaging	Het
Dst	C	T	1: 34,236,411 (GRCm39)	Q1592*	probably null	Het
Gm10226	T	A	17: 21,910,959 (GRCm39)	C65S	possibly damaging	Het
Helz2	T	C	2: 180,881,968 (GRCm39)	K275R	possibly damaging	Het
Hltf	A	G	3: 20,152,246 (GRCm39)	T581A	probably damaging	Het
Ighv1-24	C	T	12: 114,736,555 (GRCm39)	C115Y	probably damaging	Het
Il18	C	T	9: 50,489,090 (GRCm39)	L40F	possibly damaging	Het
Isg20	A	G	7: 78,566,390 (GRCm39)	D113G	probably damaging	Het
Itgb3	A	T	11: 104,524,413 (GRCm39)	D183V	probably damaging	Het
Kif12	C	T	4: 63,090,068 (GRCm39)	V28M	probably damaging	Het
Manbal	T	C	2: 157,221,107 (GRCm39)	L28P	probably damaging	Het
Masp1	T	A	16: 23,339,350 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,501,463 (GRCm39)	T72A	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mrps5	G	A	2: 127,433,876 (GRCm39)		probably benign	Het
Ms4a1	T	A	19: 11,233,954 (GRCm39)	T101S	probably benign	Het
Myo3b	A	G	2: 70,062,747 (GRCm39)	M344V	probably benign	Het
Naaladl1	T	G	19: 6,158,716 (GRCm39)	F283V	probably benign	Het
Nacc1	A	C	8: 85,403,377 (GRCm39)	V166G	probably damaging	Het
Nwd2	A	T	5: 63,961,773 (GRCm39)	R452S	probably damaging	Het
Or1n1b	T	C	2: 36,780,105 (GRCm39)	T252A	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5k16	T	C	16: 58,736,561 (GRCm39)	T148A	probably benign	Het
Or6c214	C	G	10: 129,591,094 (GRCm39)	C75S	possibly damaging	Het
Pik3cg	T	C	12: 32,245,708 (GRCm39)	I847V	possibly damaging	Het
Plcz1	G	A	6: 139,968,905 (GRCm39)	H178Y	probably damaging	Het
Prkdc	T	A	16: 15,508,160 (GRCm39)	M937K	probably benign	Het
Prr14l	A	T	5: 32,987,478 (GRCm39)	C672*	probably null	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Rbm27	T	C	18: 42,465,893 (GRCm39)	S860P	probably damaging	Het
Rfxap	G	A	3: 54,715,155 (GRCm39)		probably benign	Het
Rhbdf2	A	C	11: 116,494,758 (GRCm39)	L306R	probably benign	Het
Rigi	C	A	4: 40,208,459 (GRCm39)	V826L	probably benign	Het
Rnf123	A	T	9: 107,936,930 (GRCm39)	V875E	probably damaging	Het
Sh3bp2	A	G	5: 34,709,164 (GRCm39)		probably benign	Het
Slc7a9	A	G	7: 35,153,017 (GRCm39)	K145R	probably benign	Het
Slco5a1	A	T	1: 13,060,397 (GRCm39)	V108E	possibly damaging	Het
Stat2	A	G	10: 128,117,538 (GRCm39)	E352G	probably damaging	Het
Synj1	A	T	16: 90,735,728 (GRCm39)	S1408R	probably benign	Het
Tent5c	A	T	3: 100,380,618 (GRCm39)	I46K	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Ttc23	C	A	7: 67,342,687 (GRCm39)	C268*	probably null	Het
Uhrf2	T	C	19: 30,070,236 (GRCm39)	F795S	probably damaging	Het
Urgcp	A	G	11: 5,673,153 (GRCm39)	W41R	probably damaging	Het
Uso1	G	T	5: 92,328,422 (GRCm39)	V340F	probably damaging	Het
Vta1	A	C	10: 14,551,692 (GRCm39)	I169R	probably benign	Het
Zfp317	A	G	9: 19,556,568 (GRCm39)	I59V	probably benign	Het
Zfp799	G	A	17: 33,039,786 (GRCm39)	T160I	probably benign	Het
Zfp955a	G	T	17: 33,461,279 (GRCm39)	H284Q	possibly damaging	Het

Other mutations in Tgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Tgs1	APN	4	3,591,292 (GRCm39)	missense	possibly damaging	0.93
IGL01154:Tgs1	APN	4	3,585,473 (GRCm39)	nonsense	probably null
IGL01554:Tgs1	APN	4	3,593,632 (GRCm39)	missense	probably null	0.68
IGL01613:Tgs1	APN	4	3,585,183 (GRCm39)	missense	possibly damaging	0.92
IGL02117:Tgs1	APN	4	3,585,836 (GRCm39)	missense	probably damaging	1.00
IGL02259:Tgs1	APN	4	3,604,743 (GRCm39)	missense	probably damaging	0.96
IGL02697:Tgs1	APN	4	3,585,564 (GRCm39)	missense	probably benign	0.01
IGL02814:Tgs1	APN	4	3,585,719 (GRCm39)	missense	probably damaging	1.00
IGL02962:Tgs1	APN	4	3,586,181 (GRCm39)	missense	probably benign	0.04
IGL03223:Tgs1	APN	4	3,591,322 (GRCm39)	splice site	probably benign
IGL03340:Tgs1	APN	4	3,604,813 (GRCm39)	missense	probably benign	0.44
K2124:Tgs1	UTSW	4	3,595,547 (GRCm39)	missense	probably benign	0.00
R0189:Tgs1	UTSW	4	3,593,620 (GRCm39)	missense	probably benign	0.08
R0708:Tgs1	UTSW	4	3,586,152 (GRCm39)	missense	probably benign	0.07
R1029:Tgs1	UTSW	4	3,593,471 (GRCm39)	missense	probably damaging	0.98
R1446:Tgs1	UTSW	4	3,604,848 (GRCm39)	missense	probably damaging	1.00
R1623:Tgs1	UTSW	4	3,585,964 (GRCm39)	missense	probably benign
R1711:Tgs1	UTSW	4	3,598,658 (GRCm39)	missense	probably damaging	1.00
R1889:Tgs1	UTSW	4	3,614,928 (GRCm39)	missense	probably benign	0.31
R2911:Tgs1	UTSW	4	3,585,616 (GRCm39)	missense	probably benign	0.00
R3695:Tgs1	UTSW	4	3,604,949 (GRCm39)	splice site	probably null
R4615:Tgs1	UTSW	4	3,585,156 (GRCm39)	missense	probably damaging	1.00
R5460:Tgs1	UTSW	4	3,586,170 (GRCm39)	missense	probably benign
R6088:Tgs1	UTSW	4	3,595,383 (GRCm39)	missense	probably benign	0.06
R6442:Tgs1	UTSW	4	3,604,760 (GRCm39)	nonsense	probably null
R7542:Tgs1	UTSW	4	3,595,439 (GRCm39)	missense	probably benign	0.01
R7894:Tgs1	UTSW	4	3,598,652 (GRCm39)	missense	probably benign	0.10
R7966:Tgs1	UTSW	4	3,586,215 (GRCm39)	missense	probably benign	0.02
R7996:Tgs1	UTSW	4	3,605,842 (GRCm39)	missense	probably damaging	1.00
R8202:Tgs1	UTSW	4	3,586,097 (GRCm39)	missense	probably benign	0.01
R8298:Tgs1	UTSW	4	3,605,840 (GRCm39)	missense	probably damaging	1.00
R9006:Tgs1	UTSW	4	3,595,427 (GRCm39)	missense	probably benign	0.02
R9035:Tgs1	UTSW	4	3,593,491 (GRCm39)	missense	probably benign	0.01
R9188:Tgs1	UTSW	4	3,585,693 (GRCm39)	missense	probably benign	0.13
R9378:Tgs1	UTSW	4	3,595,475 (GRCm39)	missense	probably benign	0.01
R9664:Tgs1	UTSW	4	3,585,964 (GRCm39)	missense	probably benign
R9696:Tgs1	UTSW	4	3,575,071 (GRCm39)	missense	possibly damaging	0.63
R9750:Tgs1	UTSW	4	3,585,869 (GRCm39)	missense	probably damaging	1.00
X0023:Tgs1	UTSW	4	3,585,912 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTCTCAACTGAGGAGTGAGGG -3'
(R):5'- GACTGTTACAAGTACTCAACAGAAG -3'

Sequencing Primer
(F):5'- GGATAAGAAAACCTGCCTTTGC -3'
(R):5'- GAAAACTTAAATGTGGGACAAATCC -3'

Posted On

2021-11-19