Mutagenetix > Incidental Mutation

Incidental Mutation 'R6140:Tpk1'

488534

Institutional Source

Beutler Lab

Gene Symbol

Tpk1

Ensembl Gene

ENSMUSG00000029735

Gene Name

thiamine pyrophosphokinase

Synonyms

MMRRC Submission

044287-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43321935-43643212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43400635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 129 (M129K)

Ref Sequence

ENSEMBL: ENSMUSP00000110291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067888] [ENSMUST00000114644]

AlphaFold

Q9R0M5

Predicted Effect

probably benign
Transcript: ENSMUST00000067888
AA Change: M178K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735
AA Change: M178K

Domain	Start	End	E-Value	Type
Pfam:TPK_catalytic	30	155	2.4e-44	PFAM
TPK_B1_binding	168	235	5.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114644
AA Change: M129K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735
AA Change: M129K

Domain	Start	End	E-Value	Type
TPK_B1_binding	119	186	5.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203649

Meta Mutation Damage Score

0.1792

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.9%
20x: 91.8%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,055,923 (GRCm39)		probably benign	Het
Adgra2	A	T	8: 27,605,433 (GRCm39)	R593W	probably damaging	Het
Agfg2	T	C	5: 137,665,347 (GRCm39)	Q136R	probably damaging	Het
Ankrd42	T	C	7: 92,241,036 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,742,871 (GRCm39)	D1643G	probably damaging	Het
Ccdc171	C	T	4: 83,614,554 (GRCm39)	Q1060*	probably null	Het
Cela1	C	T	15: 100,579,037 (GRCm39)	R207H	probably benign	Het
Cfhr4	A	G	1: 139,660,133 (GRCm39)	V664A	probably damaging	Het
Clic6	A	G	16: 92,336,380 (GRCm39)	R563G	probably damaging	Het
Cspg4	A	T	9: 56,804,508 (GRCm39)	H1773L	probably benign	Het
Ddrgk1	A	G	2: 130,500,534 (GRCm39)	V204A	probably benign	Het
Dhrs7c	A	T	11: 67,705,900 (GRCm39)	T218S	probably damaging	Het
Dlgap4	A	T	2: 156,604,649 (GRCm39)		probably null	Het
Hgd	A	T	16: 37,410,075 (GRCm39)	Y37F	probably benign	Het
Hmcn1	A	C	1: 150,608,597 (GRCm39)	N1528K	probably damaging	Het
Hps3	A	G	3: 20,051,151 (GRCm39)	F843S	probably damaging	Het
Ifih1	A	G	2: 62,431,804 (GRCm39)	F800S	possibly damaging	Het
Igsf21	T	A	4: 139,834,684 (GRCm39)	T63S	probably benign	Het
Il18rap	T	G	1: 40,564,212 (GRCm39)	M110R	probably benign	Het
Kcnk2	G	T	1: 188,942,104 (GRCm39)	H384Q	probably damaging	Het
Lima1	C	T	15: 99,678,939 (GRCm39)	V341M	probably damaging	Het
Lins1	T	C	7: 66,361,672 (GRCm39)	L441P	probably damaging	Het
Lss	T	C	10: 76,386,522 (GRCm39)	Y642H	probably damaging	Het
Mrc2	A	G	11: 105,237,615 (GRCm39)	T1098A	probably benign	Het
Nf1	T	A	11: 79,364,146 (GRCm39)		probably null	Het
Nrdc	G	T	4: 108,906,308 (GRCm39)	A730S	probably damaging	Het
Nup214	C	T	2: 31,941,808 (GRCm39)	T72I	possibly damaging	Het
Or6c213	T	G	10: 129,574,523 (GRCm39)	K88Q	possibly damaging	Het
Or8g33	A	G	9: 39,337,543 (GRCm39)	S275P	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Oxt	A	G	2: 130,418,191 (GRCm39)	Y21C	probably damaging	Het
Pla2g12b	G	A	10: 59,257,263 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,298,492 (GRCm39)	V907A	probably damaging	Het
Rnls	A	T	19: 33,115,600 (GRCm39)	D157E	probably damaging	Het
Slc7a14	C	A	3: 31,291,697 (GRCm39)	V194L	probably benign	Het
Slc7a7	G	A	14: 54,616,515 (GRCm39)	T189I	probably damaging	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Ssh1	A	G	5: 114,080,692 (GRCm39)	Y891H	probably benign	Het
Suclg2	T	C	6: 95,546,702 (GRCm39)	D258G	probably damaging	Het
Ubr3	A	G	2: 69,803,673 (GRCm39)	I1088V	probably benign	Het
Vmn1r3	A	G	4: 3,185,031 (GRCm39)	I92T	probably damaging	Het
Vmn2r69	G	A	7: 85,060,657 (GRCm39)	S309F	probably damaging	Het
Wsb1	A	T	11: 79,132,444 (GRCm39)	H325Q	probably damaging	Het
Zfp263	A	G	16: 3,566,081 (GRCm39)	S281G	probably benign	Het
Zfp507	A	G	7: 35,493,613 (GRCm39)	S477P	probably damaging	Het

Other mutations in Tpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0084:Tpk1	UTSW	6	43,323,763 (GRCm39)	missense	possibly damaging	0.94
R1736:Tpk1	UTSW	6	43,588,284 (GRCm39)	missense	probably benign	0.09
R2348:Tpk1	UTSW	6	43,323,778 (GRCm39)	missense	probably damaging	0.97
R4664:Tpk1	UTSW	6	43,588,269 (GRCm39)	missense	probably benign	0.08
R4804:Tpk1	UTSW	6	43,570,012 (GRCm39)	intron	probably benign
R5172:Tpk1	UTSW	6	43,536,951 (GRCm39)	splice site	probably null
R5230:Tpk1	UTSW	6	43,400,653 (GRCm39)	missense	probably damaging	1.00
R5485:Tpk1	UTSW	6	43,642,746 (GRCm39)	utr 5 prime	probably benign
R6126:Tpk1	UTSW	6	43,400,594 (GRCm39)	missense	probably damaging	1.00
R6326:Tpk1	UTSW	6	43,323,736 (GRCm39)	missense	possibly damaging	0.77
R6460:Tpk1	UTSW	6	43,445,961 (GRCm39)	missense	probably benign	0.01
R6767:Tpk1	UTSW	6	43,323,727 (GRCm39)	missense	possibly damaging	0.93
R8061:Tpk1	UTSW	6	43,323,778 (GRCm39)	missense	probably damaging	0.97
R8120:Tpk1	UTSW	6	43,445,930 (GRCm39)	splice site	probably null
R8308:Tpk1	UTSW	6	43,642,711 (GRCm39)	missense	probably benign	0.14
R9335:Tpk1	UTSW	6	43,446,084 (GRCm39)	critical splice acceptor site	probably null
R9468:Tpk1	UTSW	6	43,536,901 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CCAGAGGCTCATATTTTCACATC -3'
(R):5'- TGGCCCTGGACATATTTATCC -3'

Sequencing Primer
(F):5'- TTCACATCATTTCTGCCCAAAAC -3'
(R):5'- CCTGGACATATTTATCCAATTTTTCG -3'

Posted On

2017-10-10