Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Tgs1'

709759

Institutional Source

Beutler Lab

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, Pimt, D4Ertd800e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3595475 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 548 (M548K)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

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

AlphaFold

Q923W1

Predicted Effect

probably benign
Transcript: ENSMUST00000052712
AA Change: M548K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: M548K

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

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2210408I21Rik	A	G	13: 77,323,616	K1047E	possibly damaging	Het
Abca14	A	T	7: 120,207,968	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422	T591A	probably benign	Het
Aff4	A	T	11: 53,372,479	T109S	probably damaging	Het
Agmo	A	G	12: 37,243,721	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827	R581*	probably null	Het
Armc9	A	T	1: 86,262,044	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377	T41S	probably benign	Het
Bin1	A	T	18: 32,419,868	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655	P295S	possibly damaging	Het
C130079G13Rik	A	G	3: 59,931,689	T11A	possibly damaging	Het
Cbx6	A	G	15: 79,828,405	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203	N281D	probably damaging	Het
Frem2	A	T	3: 53,651,989	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,461,674	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590	T47S		Het
Itgb7	A	C	15: 102,227,396		probably null	Het
Kif16b	A	T	2: 142,619,818	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415		probably null	Het
Myh1	A	C	11: 67,202,433	T117P	probably damaging	Het
Neb	C	A	2: 52,244,101	R3290L	possibly damaging	Het
Neb	A	C	2: 52,247,292	V220G		Het
Nktr	A	T	9: 121,748,198	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940	T37A	probably benign	Het
Olfr1137	C	A	2: 87,711,079	V276F	possibly damaging	Het
Olfr1224-ps1	T	C	2: 89,157,055	N40S	probably damaging	Het
Olfr131	G	A	17: 38,082,165	A271V	possibly damaging	Het
Olfr160	A	G	9: 37,712,177	I34T	probably damaging	Het
Olfr286	A	G	15: 98,227,039	L204P	possibly damaging	Het
Olfr624	A	T	7: 103,670,182	M283K	probably damaging	Het
Olfr884	G	A	9: 38,047,479	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863	V1266I		Het
Pcnx4	T	C	12: 72,555,890	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128	A225V	probably benign	Het
Plat	A	G	8: 22,775,583	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362		probably benign	Het
Slc31a1	T	A	4: 62,388,606	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216		probably benign	Het
Syne1	T	G	10: 5,250,954	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840	F236S	probably damaging	Het
Twf1	G	A	15: 94,585,455	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866	H201R	possibly damaging	Het
Whrn	T	C	4: 63,431,842	H546R	probably benign	Het
Yeats2	T	C	16: 20,214,478	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554		probably benign	Het
Zfp462	T	A	4: 55,011,510	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265	H232Q	probably benign	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
R4615:Tgs1	UTSW	4	3585156	missense	probably damaging	1.00
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
R9006:Tgs1	UTSW	4	3595427	missense	probably benign	0.02
R9035:Tgs1	UTSW	4	3593491	missense	probably benign	0.01
R9052:Tgs1	UTSW	4	3585166	missense	probably benign	0.00
R9188:Tgs1	UTSW	4	3585693	missense	probably benign	0.13
R9664:Tgs1	UTSW	4	3585964	missense	probably benign
R9696:Tgs1	UTSW	4	3575071	missense	possibly damaging	0.63
R9750:Tgs1	UTSW	4	3585869	missense	probably damaging	1.00
X0023:Tgs1	UTSW	4	3585912	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCAGATAGCCCATAATTGTAGCTTG -3'
(R):5'- ACCTTCTGTTTCTGCATGGG -3'

Sequencing Primer
(F):5'- GCCCATAATTGTAGCTTGTTTGATAC -3'
(R):5'- CTTCTGTTTCTGCATGGGGAGAG -3'

Posted On

2022-04-18