Mutagenetix > Incidental Mutation

Incidental Mutation 'R8298:Tgs1'

639063

Institutional Source

Beutler Lab

Gene Symbol

Tgs1

Ensembl Gene

ENSMUSG00000028233

Gene Name

trimethylguanosine synthase 1

Synonyms

Ncoa6ip, D4Ertd800e, Pimt

MMRRC Submission

067786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3574875-3616619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3605840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 785 (L785P)

Ref Sequence

ENSEMBL: ENSMUSP00000054112 (fasta)

Gene Model

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

AlphaFold

Q923W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052712
AA Change: L785P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054112
Gene: ENSMUSG00000028233
AA Change: L785P

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: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,695 (GRCm39)	L343P	probably benign	Het
Aak1	T	A	6: 86,902,061 (GRCm39)	F77I	possibly damaging	Het
Abca3	T	C	17: 24,604,375 (GRCm39)	L582P	probably damaging	Het
Acat1	A	T	9: 53,505,724 (GRCm39)	S136R	probably damaging	Het
Adamts2	T	C	11: 50,667,958 (GRCm39)	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,256,482 (GRCm39)	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,534,033 (GRCm39)	C5849*	probably null	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ak9	A	G	10: 41,265,054 (GRCm39)	E404G		Het
Akap13	T	C	7: 75,397,552 (GRCm39)	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Arv1	A	G	8: 125,455,111 (GRCm39)	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429 (GRCm39)	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,827,649 (GRCm39)	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,311,362 (GRCm39)	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,462,115 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,814,157 (GRCm39)	D1458G	probably benign	Het
Dock10	T	C	1: 80,514,654 (GRCm39)	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,057,112 (GRCm39)	D354N	probably damaging	Het
Epha3	T	A	16: 63,386,961 (GRCm39)	I892F	probably benign	Het
Evi5	G	A	5: 107,964,731 (GRCm39)	S317L	possibly damaging	Het
Evl	C	T	12: 108,619,232 (GRCm39)	P76S	probably benign	Het
Fyb2	A	C	4: 104,806,028 (GRCm39)	E369D	probably damaging	Het
Gm10000	T	C	12: 104,442,436 (GRCm39)		probably benign	Het
Gm1979	T	C	5: 26,206,148 (GRCm39)	N190S	probably damaging	Het
Gm3633	T	C	14: 42,462,675 (GRCm39)	E72G		Het
Gm5414	T	C	15: 101,532,605 (GRCm39)	Y506C	unknown	Het
Gm572	T	A	4: 148,742,550 (GRCm39)	H96Q	possibly damaging	Het
Gml	T	C	15: 74,685,541 (GRCm39)	E148G	probably damaging	Het
Got1l1	T	C	8: 27,688,586 (GRCm39)	D255G	probably benign	Het
Hydin	A	G	8: 111,327,015 (GRCm39)	N4785D	probably damaging	Het
Kcnk12	A	T	17: 88,104,713 (GRCm39)	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,186,429 (GRCm39)	G336C	probably damaging	Het
Kprp	T	C	3: 92,732,607 (GRCm39)	T148A	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,042,927 (GRCm39)	S41T	unknown	Het
Lnx2	A	T	5: 146,961,327 (GRCm39)	M535K	probably benign	Het
Mmp9	T	A	2: 164,792,279 (GRCm39)	F294L	probably null	Het
Myo7a	T	C	7: 97,747,541 (GRCm39)	Y97C	probably damaging	Het
Nav2	T	C	7: 49,204,009 (GRCm39)		probably null	Het
Ndufaf3	T	C	9: 108,444,120 (GRCm39)	T3A	probably benign	Het
Nrxn1	A	G	17: 91,011,597 (GRCm39)	I344T	probably damaging	Het
Or1j1	T	C	2: 36,703,038 (GRCm39)	E22G	probably benign	Het
Or5ap2	T	C	2: 85,680,533 (GRCm39)	S246P	probably damaging	Het
Or5w14	A	T	2: 87,541,376 (GRCm39)	S291R	probably damaging	Het
Pccb	T	C	9: 100,867,885 (GRCm39)	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,623,852 (GRCm39)	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,009,618 (GRCm39)	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,844,994 (GRCm39)	M131V	probably benign	Het
Prmt3	A	G	7: 49,507,186 (GRCm39)	T517A	probably benign	Het
Prpf4b	A	G	13: 35,072,166 (GRCm39)	H491R	unknown	Het
Rhot1	T	A	11: 80,137,502 (GRCm39)	C335S	probably benign	Het
Robo1	C	T	16: 72,769,020 (GRCm39)		probably benign	Het
Samd3	A	T	10: 26,121,468 (GRCm39)	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,297,647 (GRCm39)	D208E	possibly damaging	Het
Spta1	A	T	1: 174,074,953 (GRCm39)	D2393V	probably damaging	Het
Tmem25	C	T	9: 44,710,116 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,038,753 (GRCm39)	Y780H	probably damaging	Het
Ttn	C	A	2: 76,557,511 (GRCm39)	W29861L	probably damaging	Het
Usp1	T	A	4: 98,819,136 (GRCm39)	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,911,148 (GRCm39)	I715T		Het
Zfp169	G	A	13: 48,651,853 (GRCm39)	Q68*	probably null	Het
Zfp418	T	A	7: 7,185,814 (GRCm39)	Y592*	probably null	Het
Zfp712	A	G	13: 67,188,976 (GRCm39)	V517A	probably benign	Het
Zfp934	A	T	13: 62,666,295 (GRCm39)	H146Q		Het
Zgrf1	T	C	3: 127,408,878 (GRCm39)	S1662P	probably 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
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
R9052:Tgs1	UTSW	4	3,585,166 (GRCm39)	missense	probably benign	0.00
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'- TTTAACCTACCAGGGTGCTG -3'
(R):5'- AACTGGTCATCCTGTCAATCC -3'

Sequencing Primer
(F):5'- CTGTTGTTGCTGGATTCCAAATC -3'
(R):5'- AAAACCCTAGTGATATCATCTCCTTC -3'

Posted On

2020-07-28