Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00590:Dtymk'

10414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dtymk

Ensembl Gene

ENSMUSG00000026281

Gene Name

deoxythymidylate kinase

Synonyms

mtmk, CDC8, D10Ertd203e, TYPK, Tmk

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL00590

Quality Score

Status

Chromosome

Chromosomal Location

93720298-93729656 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 93722446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000027503] [ENSMUST00000112893]

AlphaFold

P97930

Predicted Effect

probably benign
Transcript: ENSMUST00000027502

SMART Domains

Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	39	335	4.4e-104	PFAM
low complexity region	375	393	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000027503

SMART Domains

Protein: ENSMUSP00000027503
Gene: ENSMUSG00000026281

Domain	Start	End	E-Value	Type
Pfam:Thymidylate_kin	11	191	6.7e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112893

SMART Domains

Protein: ENSMUSP00000108514
Gene: ENSMUSG00000026281

Domain	Start	End	E-Value	Type
Pfam:Thymidylate_kin	16	133	1.9e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144106

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,038 (GRCm39)	F58C	probably damaging	Het
Adgrf5	G	T	17: 43,764,038 (GRCm39)	G1320V	probably damaging	Het
Akap13	A	G	7: 75,260,417 (GRCm39)	K211E	probably benign	Het
Akap8l	T	C	17: 32,552,071 (GRCm39)	D402G	possibly damaging	Het
Akna	T	C	4: 63,290,115 (GRCm39)	I1198V	probably benign	Het
Apaf1	T	A	10: 90,859,650 (GRCm39)	I832F	probably damaging	Het
Cbl	A	C	9: 44,112,495 (GRCm39)	L67V	probably damaging	Het
Chl1	T	C	6: 103,670,022 (GRCm39)	Y471H	probably benign	Het
Cystm1	T	A	18: 36,499,728 (GRCm39)	Y48N	unknown	Het
Dennd5b	T	C	6: 148,969,806 (GRCm39)	T216A	probably benign	Het
Dpep2	A	T	8: 106,715,453 (GRCm39)	M356K	probably damaging	Het
Fam91a1	A	G	15: 58,287,565 (GRCm39)	D4G	possibly damaging	Het
Fbxl20	A	G	11: 97,983,955 (GRCm39)	L306P	probably damaging	Het
Fchsd1	C	T	18: 38,098,946 (GRCm39)		probably benign	Het
Fndc1	G	A	17: 7,983,933 (GRCm39)	T1331I	unknown	Het
Gpatch8	T	C	11: 102,371,375 (GRCm39)	D721G	unknown	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Heyl	A	G	4: 123,140,423 (GRCm39)	*327W	probably null	Het
Kif13b	G	T	14: 65,016,911 (GRCm39)	R1359L	probably damaging	Het
Map3k14	C	T	11: 103,128,380 (GRCm39)	G414S	probably damaging	Het
Meis2	C	T	2: 115,699,274 (GRCm39)	A330T	probably damaging	Het
Mrpl9	T	C	3: 94,351,003 (GRCm39)	L61P	probably damaging	Het
Mrps6	A	G	16: 91,896,548 (GRCm39)	N38D	probably benign	Het
Muc4	C	T	16: 32,575,465 (GRCm39)	T1407I	probably benign	Het
Nup107	A	G	10: 117,599,708 (GRCm39)	Y604H	probably damaging	Het
Pgm2l1	T	C	7: 99,904,826 (GRCm39)		probably null	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Rb1cc1	T	C	1: 6,308,520 (GRCm39)	F52S	probably damaging	Het
Rnft1	T	A	11: 86,386,740 (GRCm39)	W383R	probably damaging	Het
Tas2r104	A	T	6: 131,662,530 (GRCm39)	W60R	probably damaging	Het
Tlr11	A	G	14: 50,598,373 (GRCm39)	T120A	probably benign	Het
Tmem150b	T	G	7: 4,726,896 (GRCm39)	I71L	probably benign	Het
Zfp296	A	G	7: 19,311,760 (GRCm39)	D89G	possibly damaging	Het

Other mutations in Dtymk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Dtymk	APN	1	93,722,465 (GRCm39)	missense	probably benign	0.00
IGL03342:Dtymk	APN	1	93,722,541 (GRCm39)	missense	probably benign	0.01
R0883:Dtymk	UTSW	1	93,729,510 (GRCm39)	missense	possibly damaging	0.64
R4765:Dtymk	UTSW	1	93,720,631 (GRCm39)	missense	probably damaging	1.00
R6799:Dtymk	UTSW	1	93,726,214 (GRCm39)	missense	probably benign
R8767:Dtymk	UTSW	1	93,728,635 (GRCm39)	unclassified	probably benign
R8850:Dtymk	UTSW	1	93,729,543 (GRCm39)	missense	probably benign

Posted On

2012-12-06