Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Tgs1'

360719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, Pimt, D4Ertd800e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3585719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 199 (Y199N)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

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

AlphaFold

Q923W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052712
AA Change: Y199N

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

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: Y199N

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably 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
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
R9378:Tgs1	UTSW	4	3595475	missense	probably benign	0.01
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

Posted On

2015-12-18