Mutagenetix > Incidental Mutations

Incidental Mutation 'R4615:Tgs1'

345008

Institutional Source

Beutler Lab

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, Pimt, D4Ertd800e

MMRRC Submission

041826-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3585156 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 99 (F99L)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052712
AA Change: F99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: F99L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132518

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Abcc9	C	G	6: 142,689,107	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,494,569		probably null	Het
Adprhl1	A	G	8: 13,242,250		probably null	Het
Angptl3	A	T	4: 99,031,361	E119D	probably benign	Het
Atp8b1	T	C	18: 64,553,099	N671S	probably null	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Carmil2	A	G	8: 105,695,074	D1019G	possibly damaging	Het
Cdh8	A	T	8: 99,279,622	I111K	probably damaging	Het
Cep120	T	C	18: 53,714,841	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,607,738	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnga1	A	C	5: 72,604,774	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,596,937	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,428,749	S1117P	probably damaging	Het
Cyp2b9	T	A	7: 26,201,125	L396Q	probably damaging	Het
Cyp8b1	A	T	9: 121,916,098	L56*	probably null	Het
Dcbld2	A	G	16: 58,456,094	T458A	probably benign	Het
Dio2	G	T	12: 90,729,821	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,158,168	Y990C	probably damaging	Het
Dsc3	T	C	18: 19,971,488	D594G	possibly damaging	Het
Dsp	A	G	13: 38,191,632	E1131G	probably damaging	Het
Fdx1	A	T	9: 51,948,645	Y21*	probably null	Het
Gal3st4	A	G	5: 138,266,263	V158A	probably damaging	Het
Gm10269	T	A	18: 20,682,763	E67D	probably benign	Het
Gm5773	A	G	3: 93,774,032	H337R	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gng2	C	T	14: 19,891,327	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Lama2	C	A	10: 26,981,524	V3110F	probably damaging	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Ncapg	A	T	5: 45,687,399	M579L	probably benign	Het
Olfr1338	T	C	4: 118,754,137	T134A	probably benign	Het
Olfr292	T	C	7: 86,694,728	S91P	probably damaging	Het
Oog3	A	T	4: 144,158,329	Y346N	probably benign	Het
Orm2	A	G	4: 63,363,299	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,308,500	S288T	probably benign	Het
Pcsk2	G	T	2: 143,795,969	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,521,091	I138M	probably damaging	Het
Pde8a	T	C	7: 81,320,737	W536R	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Plcl1	A	T	1: 55,698,134	N878I	probably benign	Het
Prkdc	A	T	16: 15,663,074	D353V	probably damaging	Het
Psme4	C	T	11: 30,834,287	T954I	probably benign	Het
Ran	A	G	5: 129,022,098	I115V	probably benign	Het
Reln	A	G	5: 21,972,872	L1867P	possibly damaging	Het
S100a1	A	G	3: 90,511,255	V84A	possibly damaging	Het
Sall2	G	A	14: 52,312,750	P994L	probably benign	Het
Shtn1	A	T	19: 59,022,216	I273N	probably benign	Het
Slc17a9	T	C	2: 180,731,906	I40T	probably benign	Het
Slc29a2	T	C	19: 5,029,264	V305A	probably damaging	Het
Ssfa2	A	G	2: 79,662,382	E1091G	probably damaging	Het
Taar2	T	A	10: 23,941,365	F268I	probably benign	Het
Taf3	G	A	2: 9,952,090	T422I	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Ttn	A	G	2: 76,766,875	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,789,046	T3N	probably damaging	Het
Vars	A	T	17: 35,013,881	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,293,482	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,582,302	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,518,063	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,943,683	V358A	possibly damaging	Het

Other mutations in Tgs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Tgs1	APN	4	3591292	missense	possibly damaging	0.93
IGL01154:Tgs1	APN	4	3585473	nonsense	probably null
IGL01554:Tgs1	APN	4	3593632	missense	probably null	0.68
IGL01613:Tgs1	APN	4	3585183	missense	possibly damaging	0.92
IGL02117:Tgs1	APN	4	3585836	missense	probably damaging	1.00
IGL02259:Tgs1	APN	4	3604743	missense	probably damaging	0.96
IGL02697:Tgs1	APN	4	3585564	missense	probably benign	0.01
IGL02814:Tgs1	APN	4	3585719	missense	probably damaging	1.00
IGL02962:Tgs1	APN	4	3586181	missense	probably benign	0.04
IGL03223:Tgs1	APN	4	3591322	splice site	probably benign
IGL03340:Tgs1	APN	4	3604813	missense	probably benign	0.44
K2124:Tgs1	UTSW	4	3595547	missense	probably benign	0.00
R0189:Tgs1	UTSW	4	3593620	missense	probably benign	0.08
R0708:Tgs1	UTSW	4	3586152	missense	probably benign	0.07
R1029:Tgs1	UTSW	4	3593471	missense	probably damaging	0.98
R1446:Tgs1	UTSW	4	3604848	missense	probably damaging	1.00
R1623:Tgs1	UTSW	4	3585964	missense	probably benign
R1711:Tgs1	UTSW	4	3598658	missense	probably damaging	1.00
R1889:Tgs1	UTSW	4	3614928	missense	probably benign	0.31
R2911:Tgs1	UTSW	4	3585616	missense	probably benign	0.00
R3695:Tgs1	UTSW	4	3604949	splice site	probably null
R5460:Tgs1	UTSW	4	3586170	missense	probably benign
R6088:Tgs1	UTSW	4	3595383	missense	probably benign	0.06
R6442:Tgs1	UTSW	4	3604760	nonsense	probably null
R7542:Tgs1	UTSW	4	3595439	missense	probably benign	0.01
R7894:Tgs1	UTSW	4	3598652	missense	probably benign	0.10
R7966:Tgs1	UTSW	4	3586215	missense	probably benign	0.02
R7996:Tgs1	UTSW	4	3605842	missense	probably damaging	1.00
R8202:Tgs1	UTSW	4	3586097	missense	probably benign	0.01
R8298:Tgs1	UTSW	4	3605840	missense	probably damaging	1.00
X0023:Tgs1	UTSW	4	3585912	missense	probably benign	0.03

Predicted Primers

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

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

Posted On

2015-09-25