Mutagenetix > Incidental Mutation

Incidental Mutation 'R8120:Tpk1'

647931

Institutional Source

Beutler Lab

Gene Symbol

Tpk1

Ensembl Gene

ENSMUSG00000029735

Gene Name

thiamine pyrophosphokinase

Synonyms

MMRRC Submission

067549-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43321935-43643212 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 43445930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065631 (fasta)

Gene Model

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

AlphaFold

Q9R0M5

PDB Structure

Mouse Thiamin Pyrophosphokinase Complexed with Thiamin [X-RAY DIFFRACTION]
Mouse Thiamin Pyrophosphokinase in a Ternary Complex with Pyrithiamin Pyrophosphate and AMP at 2.5 angstrom [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000067888

SMART Domains

Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735

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

SMART Domains

Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.1%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,460 (GRCm39)	Q239L	probably benign	Het
Abca12	T	C	1: 71,298,540 (GRCm39)	I2361V	possibly damaging	Het
Abcc8	T	C	7: 45,786,108 (GRCm39)	E655G	probably benign	Het
Ablim1	C	T	19: 57,035,360 (GRCm39)	V662I	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Als2cl	A	C	9: 110,714,460 (GRCm39)	I103L	possibly damaging	Het
Arhgef26	A	T	3: 62,248,796 (GRCm39)	D370V	probably damaging	Het
Brwd1	A	C	16: 95,820,649 (GRCm39)	D1292E	probably benign	Het
Cdc5l	T	C	17: 45,718,796 (GRCm39)	T607A	probably benign	Het
Cfhr1	T	C	1: 139,475,583 (GRCm39)	Y296C	unknown	Het
Cubn	A	T	2: 13,336,471 (GRCm39)	C2452S	probably damaging	Het
Dgcr2	A	T	16: 17,675,183 (GRCm39)	Y187*	probably null	Het
Dhodh	G	A	8: 110,328,057 (GRCm39)	T172I	probably benign	Het
Dnah6	G	A	6: 73,002,769 (GRCm39)	R3876C	probably damaging	Het
Dnai4	G	A	4: 102,923,531 (GRCm39)	R433W	probably damaging	Het
Farsb	A	T	1: 78,439,475 (GRCm39)	N389K	probably benign	Het
Fryl	T	C	5: 73,228,527 (GRCm39)	T1735A	probably benign	Het
Garin4	T	G	1: 190,895,022 (GRCm39)	Q540H	probably damaging	Het
Gpcpd1	C	T	2: 132,395,943 (GRCm39)	R136H	probably damaging	Het
Gpr171	T	A	3: 59,005,406 (GRCm39)	Y123F	probably damaging	Het
Hcar1	C	A	5: 124,017,068 (GRCm39)	V208F	probably damaging	Het
Hgf	T	A	5: 16,818,779 (GRCm39)	L524M	probably damaging	Het
Itga2b	A	T	11: 102,360,368 (GRCm39)	H57Q	probably damaging	Het
Itpripl2	G	T	7: 118,089,508 (GRCm39)	N350K	probably damaging	Het
Limk2	C	T	11: 3,298,589 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,246,267 (GRCm39)	V315E	probably damaging	Het
Nars1	T	C	18: 64,637,422 (GRCm39)	Y386C	probably benign	Het
Odr4	T	C	1: 150,260,177 (GRCm39)		probably null	Het
Or10j3	C	T	1: 173,031,502 (GRCm39)	T193I	probably benign	Het
Or6z5	A	T	7: 6,477,119 (GRCm39)	R3S	probably benign	Het
Pcnx3	C	T	19: 5,717,574 (GRCm39)	A1512T	probably benign	Het
Pde1b	A	G	15: 103,430,524 (GRCm39)	D176G	possibly damaging	Het
Pde4dip	T	A	3: 97,614,254 (GRCm39)	T1855S	probably null	Het
Prr12	A	G	7: 44,684,166 (GRCm39)	Y1625H	probably damaging	Het
Psmc2	T	C	5: 22,005,566 (GRCm39)	Y216H	probably damaging	Het
Ptchd3	A	T	11: 121,733,034 (GRCm39)	E641D	probably benign	Het
Rtf1	A	G	2: 119,531,602 (GRCm39)	T110A	probably damaging	Het
Rusc1	C	A	3: 88,996,513 (GRCm39)	W690L	probably damaging	Het
Sardh	A	G	2: 27,108,863 (GRCm39)	V624A	possibly damaging	Het
Slc17a9	G	A	2: 180,374,308 (GRCm39)	G125S	probably benign	Het
Smpdl3a	A	T	10: 57,683,547 (GRCm39)	N219I	probably damaging	Het
Spo11	G	T	2: 172,827,251 (GRCm39)	D155Y	probably damaging	Het
Stk38l	A	G	6: 146,660,099 (GRCm39)	T44A	probably benign	Het
Tceanc2	A	T	4: 107,034,829 (GRCm39)	I11N	probably benign	Het
Tead2	A	T	7: 44,865,752 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,593,835 (GRCm39)	N20602D	probably damaging	Het
Tub	T	A	7: 108,624,803 (GRCm39)		probably null	Het
Uba2	A	T	7: 33,867,812 (GRCm39)	S42T	probably benign	Het
Vangl1	T	A	3: 102,070,758 (GRCm39)	R393*	probably null	Het
Washc3	G	A	10: 88,037,159 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp267	A	T	3: 36,218,640 (GRCm39)	N221I	possibly damaging	Het
Zfp386	C	T	12: 116,018,573 (GRCm39)	P81S	unknown	Het
Zw10	A	T	9: 48,985,413 (GRCm39)	E616D	probably benign	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
R6140:Tpk1	UTSW	6	43,400,635 (GRCm39)	missense	probably benign	0.00
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
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'- AGCCACTCAAAATGCAGAAGTG -3'
(R):5'- ATACTGCAAGCACCGTTTGG -3'

Sequencing Primer
(F):5'- ACCAAAAACAAAAACAGAAAGCAC -3'
(R):5'- ACACTTGTGACTTCTAATTGGGC -3'

Posted On

2020-09-11