Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02986:Tyms'

406729

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tyms

Ensembl Gene

ENSMUSG00000025747

Gene Name

thymidylate synthase

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02986

Quality Score

Status

Chromosome

Chromosomal Location

30263200-30278615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30266997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 169 (Y169C)

Ref Sequence

ENSEMBL: ENSMUSP00000142970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026846] [ENSMUST00000141630] [ENSMUST00000146520] [ENSMUST00000196095] [ENSMUST00000196872] [ENSMUST00000198095]

AlphaFold

P07607

Predicted Effect

probably damaging
Transcript: ENSMUST00000026846
AA Change: Y252C

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

SMART Domains

Protein: ENSMUSP00000026846
Gene: ENSMUSG00000025747
AA Change: Y252C

Domain	Start	End	E-Value	Type
Pfam:Thymidylat_synt	25	307	2.4e-118	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134298

Predicted Effect

probably benign
Transcript: ENSMUST00000141630

SMART Domains

Protein: ENSMUSP00000123377
Gene: ENSMUSG00000025747

Domain	Start	End	E-Value	Type
Pfam:Thymidylat_synt	24	121	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154751

Predicted Effect

probably benign
Transcript: ENSMUST00000196095

SMART Domains

Protein: ENSMUSP00000143552
Gene: ENSMUSG00000025747

Domain	Start	End	E-Value	Type
Pfam:Thymidylat_synt	25	93	1.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196872
AA Change: Y169C

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

SMART Domains

Protein: ENSMUSP00000142970
Gene: ENSMUSG00000025747
AA Change: Y169C

Domain	Start	End	E-Value	Type
Pfam:Thymidylat_synt	24	65	4.3e-6	PFAM
Pfam:Thymidylat_synt	59	175	6.8e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198095

SMART Domains

Protein: ENSMUSP00000143001
Gene: ENSMUSG00000025747

Domain	Start	End	E-Value	Type
Pfam:Thymidylat_synt	24	88	6.6e-20	PFAM
Pfam:Thymidylat_synt	86	139	1.4e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate as a cofactor. This function maintains the thymidine-5-prime monophosphate concentration critical for DNA replication and repair. The encoded enzyme is a target for cancer chemotherapeutic agents. The majority of transcripts for this gene lack a 3' UTR (PMID: 3022294, 3444407). The stop codon in these transcripts is UAA, compared to the UAG found in the genome and longer transcripts, as the polyA site is located within the stop codon (PMID: 3444407, 2157203). A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,263,311 (GRCm39)	V264A	possibly damaging	Het
Akr1c6	G	T	13: 4,486,414 (GRCm39)	V74L	probably benign	Het
Atp10a	T	G	7: 58,478,469 (GRCm39)	V1504G	probably benign	Het
Ccng1	A	G	11: 40,641,690 (GRCm39)		probably benign	Het
Celsr3	A	T	9: 108,718,454 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,199,470 (GRCm39)	V43A	possibly damaging	Het
Dab1	A	G	4: 104,336,418 (GRCm39)	T5A	probably benign	Het
Dennd5a	C	T	7: 109,534,731 (GRCm39)	A47T	probably benign	Het
Dgkb	A	G	12: 38,150,399 (GRCm39)	T69A	possibly damaging	Het
Dhx37	G	A	5: 125,496,379 (GRCm39)	P721L	probably damaging	Het
Efr3b	T	C	12: 4,016,495 (GRCm39)	N641D	probably benign	Het
Espnl	A	T	1: 91,272,572 (GRCm39)	Q600L	probably benign	Het
Esyt1	A	G	10: 128,352,626 (GRCm39)	V693A	probably damaging	Het
Fscn2	A	G	11: 120,258,176 (GRCm39)	D366G	possibly damaging	Het
Gcsam	C	A	16: 45,440,366 (GRCm39)	F136L	probably benign	Het
Gm10643	A	T	8: 84,790,887 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,624 (GRCm39)	D174V	probably benign	Het
Hgfac	T	C	5: 35,201,207 (GRCm39)	V210A	probably benign	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
L3mbtl1	T	C	2: 162,812,225 (GRCm39)	W757R	probably damaging	Het
Lrrfip2	A	G	9: 110,990,461 (GRCm39)		probably null	Het
Ly75	T	C	2: 60,138,535 (GRCm39)	D1444G	probably damaging	Het
Mars1	A	G	10: 127,133,438 (GRCm39)	V765A	probably benign	Het
Med1	A	G	11: 98,047,086 (GRCm39)		probably benign	Het
Msln	G	A	17: 25,971,907 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,197,645 (GRCm39)		probably null	Het
Or1p1c	T	G	11: 74,160,928 (GRCm39)	F238V	possibly damaging	Het
Or7e173	A	T	9: 19,939,007 (GRCm39)	F76I	probably benign	Het
Otop2	T	A	11: 115,220,393 (GRCm39)	M411K	probably benign	Het
Picalm	A	G	7: 89,856,793 (GRCm39)	I649M	probably benign	Het
Plekha8	T	C	6: 54,606,851 (GRCm39)	L382P	probably damaging	Het
Pspn	A	G	17: 57,306,853 (GRCm39)		probably benign	Het
Rnf215	A	G	11: 4,089,793 (GRCm39)	T269A	probably damaging	Het
Rps6kc1	A	T	1: 190,566,258 (GRCm39)	L329Q	probably damaging	Het
Srms	T	A	2: 180,854,290 (GRCm39)	R92S	possibly damaging	Het
Ssxb10	C	A	X: 8,201,845 (GRCm39)	S157*	probably null	Het
Tfap2c	T	C	2: 172,399,171 (GRCm39)	S448P	probably damaging	Het
Thsd7b	A	G	1: 129,843,352 (GRCm39)	N855D	probably benign	Het
Timeless	A	C	10: 128,085,629 (GRCm39)	D887A	possibly damaging	Het
Unc45b	T	A	11: 82,808,005 (GRCm39)	C207S	probably damaging	Het
Utp20	A	G	10: 88,611,147 (GRCm39)	F1390S	probably damaging	Het
Vmn2r53	A	T	7: 12,315,393 (GRCm39)		probably benign	Het
Zfp369	A	T	13: 65,428,095 (GRCm39)	D18V	probably damaging	Het

Other mutations in Tyms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02590:Tyms	APN	5	30,269,149 (GRCm39)	missense	probably benign	0.32
R0225:Tyms	UTSW	5	30,268,256 (GRCm39)	missense	probably damaging	1.00
R1827:Tyms	UTSW	5	30,267,014 (GRCm39)	splice site	probably null
R5862:Tyms	UTSW	5	30,268,408 (GRCm39)	missense	probably damaging	1.00
R5933:Tyms	UTSW	5	30,278,357 (GRCm39)	critical splice donor site	probably null
R6799:Tyms	UTSW	5	30,266,069 (GRCm39)	missense	probably benign
R7615:Tyms	UTSW	5	30,278,558 (GRCm39)	start gained	probably benign
R8769:Tyms	UTSW	5	30,278,360 (GRCm39)	intron	probably benign
R9161:Tyms	UTSW	5	30,266,040 (GRCm39)	missense
R9569:Tyms	UTSW	5	30,268,360 (GRCm39)	nonsense	probably null
R9593:Tyms	UTSW	5	30,269,110 (GRCm39)	missense

Posted On

2016-08-02