Mutagenetix > Incidental Mutation

Incidental Mutation 'R9335:Tpk1'

707064

Institutional Source

Beutler Lab

Gene Symbol

Tpk1

Ensembl Gene

ENSMUSG00000029735

Gene Name

thiamine pyrophosphokinase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9335 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43321935-43643212 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 43446084 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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,852,830 (GRCm39)	T102K	probably damaging	Het
Afm	A	T	5: 90,698,086 (GRCm39)	D496V	probably damaging	Het
Aldh1l2	C	T	10: 83,342,510 (GRCm39)	M546I	probably damaging	Het
Apol7c	G	T	15: 77,409,889 (GRCm39)	N352K	probably benign	Het
Arfgef1	A	T	1: 10,228,236 (GRCm39)	D1319E	probably damaging	Het
Atl2	A	G	17: 80,160,207 (GRCm39)	I460T	probably benign	Het
Brms1l	C	A	12: 55,888,431 (GRCm39)	T73K	possibly damaging	Het
C1rl	A	T	6: 124,482,341 (GRCm39)	H154L	probably benign	Het
Cacna2d4	T	A	6: 119,279,014 (GRCm39)	L709Q	probably damaging	Het
Cd101	A	T	3: 100,915,431 (GRCm39)	V716D	probably benign	Het
Cd177	A	G	7: 24,443,711 (GRCm39)	S796P	probably benign	Het
D430041D05Rik	A	T	2: 104,078,674 (GRCm39)	M530K	probably damaging	Het
Dcbld2	A	T	16: 58,272,141 (GRCm39)	Q399L	probably benign	Het
Dennd4b	T	C	3: 90,175,611 (GRCm39)	Y138H	probably damaging	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnai2	A	G	11: 114,625,489 (GRCm39)	I107V	probably benign	Het
Dync2h1	A	C	9: 7,112,149 (GRCm39)	V2480G	possibly damaging	Het
Ect2l	T	A	10: 18,077,032 (GRCm39)	T24S	probably null	Het
Egfr	C	A	11: 16,820,991 (GRCm39)	T302K	probably damaging	Het
Eid1	T	G	2: 125,515,578 (GRCm39)	I156S	possibly damaging	Het
Elmod1	A	T	9: 53,843,116 (GRCm39)	W21R	probably benign	Het
Enah	G	A	1: 181,749,450 (GRCm39)	P463L	probably damaging	Het
Epha7	A	G	4: 28,966,529 (GRCm39)	Y602C	probably benign	Het
Ermap	T	A	4: 119,035,545 (GRCm39)	Y481F	probably damaging	Het
Fam114a2	G	T	11: 57,397,748 (GRCm39)	T231N	possibly damaging	Het
Gdap1	A	G	1: 17,231,389 (GRCm39)	T245A	probably benign	Het
Glmp	T	A	3: 88,235,563 (GRCm39)	V368D	probably damaging	Het
Gm10203	C	T	6: 149,031,815 (GRCm39)	A40V	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hao2	C	A	3: 98,791,010 (GRCm39)	V55L	possibly damaging	Het
Hemgn	A	T	4: 46,394,647 (GRCm39)	S488T	probably benign	Het
Ighv12-3	C	T	12: 114,330,312 (GRCm39)	G61E	probably damaging	Het
Itga2b	T	C	11: 102,346,478 (GRCm39)	E986G	probably damaging	Het
Laptm5	T	G	4: 130,656,839 (GRCm39)	S167A		Het
Lmtk3	A	T	7: 45,442,165 (GRCm39)	Y377F	probably damaging	Het
Lrp2	A	G	2: 69,258,983 (GRCm39)	I4569T	probably benign	Het
Magi2	A	G	5: 20,866,263 (GRCm39)	N176D		Het
Mcf2l	C	A	8: 13,050,812 (GRCm39)	H356N	possibly damaging	Het
Mettl4	T	A	17: 95,042,936 (GRCm39)	Y300F	probably damaging	Het
Naaladl2	T	G	3: 24,467,532 (GRCm39)	K307N	possibly damaging	Het
Or1a1b	T	A	11: 74,097,832 (GRCm39)	D70V	probably damaging	Het
Or2aj4	G	A	16: 19,385,513 (GRCm39)	T40I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or6c8b	C	T	10: 128,882,614 (GRCm39)	G106E	probably damaging	Het
Phip	T	A	9: 82,814,979 (GRCm39)	M248L	probably benign	Het
Picalm	A	G	7: 89,825,491 (GRCm39)	T300A	probably benign	Het
Ppa1	T	G	10: 61,484,562 (GRCm39)	V19G	possibly damaging	Het
Ppp4r3a	T	C	12: 101,007,013 (GRCm39)	Y793C	probably damaging	Het
Prlr	A	T	15: 10,325,357 (GRCm39)	I177F	probably benign	Het
Prodh	C	A	16: 17,894,160 (GRCm39)	G457V	probably damaging	Het
Prrt3	T	C	6: 113,475,058 (GRCm39)	K55E	probably benign	Het
Prx	G	T	7: 27,217,496 (GRCm39)	V805L	probably damaging	Het
Ptk6	T	G	2: 180,844,146 (GRCm39)	D51A	probably damaging	Het
Rec114	T	A	9: 58,565,041 (GRCm39)	Q205L	probably null	Het
Rfwd3	T	G	8: 112,006,567 (GRCm39)	K510Q	possibly damaging	Het
Sdhb	C	T	4: 140,700,250 (GRCm39)	R117C	probably benign	Het
Serinc2	T	G	4: 130,158,220 (GRCm39)	T21P	probably benign	Het
Serpinb3a	A	C	1: 106,974,886 (GRCm39)	F216V	probably damaging	Het
Sertm1	T	C	3: 54,806,929 (GRCm39)	D32G	probably damaging	Het
Setx	A	G	2: 29,035,963 (GRCm39)	D816G	probably benign	Het
Sfxn4	T	A	19: 60,839,494 (GRCm39)	N188I	probably damaging	Het
Slc26a4	T	C	12: 31,575,553 (GRCm39)	D711G	probably damaging	Het
Sp9	T	C	2: 73,104,621 (GRCm39)	F392L	probably damaging	Het
Ssbp1	T	C	6: 40,454,955 (GRCm39)	L138P	probably damaging	Het
Sv2a	G	A	3: 96,092,588 (GRCm39)	G96E	probably damaging	Het
Tbc1d9	G	T	8: 83,937,160 (GRCm39)	G81C	possibly damaging	Het
Tmem67	G	A	4: 12,040,640 (GRCm39)	Q968*	probably null	Het
Tnni2	T	C	7: 141,998,003 (GRCm39)	S169P	probably damaging	Het
Unc13b	T	A	4: 43,216,123 (GRCm39)	Y141N	possibly damaging	Het
Unc13b	A	T	4: 43,255,551 (GRCm39)	E1057D	probably damaging	Het
Usf3	G	T	16: 44,041,936 (GRCm39)	G2139C	probably damaging	Het
Vmn1r36	A	T	6: 66,693,430 (GRCm39)	Y148*	probably null	Het
Vmn2r42	A	C	7: 8,197,758 (GRCm39)	M287R	probably damaging	Het
Vmn2r60	A	T	7: 41,844,332 (GRCm39)	H565L	probably damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp974	A	T	7: 27,611,476 (GRCm39)	M83K	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
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
R9468:Tpk1	UTSW	6	43,536,901 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ATGAGGGGCGCTGTTTACTC -3'
(R):5'- TGAAACCTGCTGCTCTGCTG -3'

Sequencing Primer
(F):5'- GCGCTGTTTACTCACGGG -3'
(R):5'- AGTAGATCTTGATATCCAGCTCTGC -3'

Posted On

2022-04-18