Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Tpk1'

199710

Institutional Source

Beutler Lab

Gene Symbol

Tpk1

Ensembl Gene

ENSMUSG00000029735

Gene Name

thiamine pyrophosphokinase

Synonyms

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43321935-43643212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43588284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 27 (P27S)

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: P27S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000065631
Gene: ENSMUSG00000029735
AA Change: P27S

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

noncoding transcript
Transcript: ENSMUST00000114643

Predicted Effect

probably benign
Transcript: ENSMUST00000114644
AA Change: P27S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110291
Gene: ENSMUSG00000029735
AA Change: P27S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150599

SMART Domains

Protein: ENSMUSP00000121115
Gene: ENSMUSG00000029735

Domain	Start	End	E-Value	Type
SCOP:d1ig3a2	1	38	2e-14	SMART
PDB:2F17\|B	1	40	3e-22	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203649

Meta Mutation Damage Score

0.1523

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	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
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
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'- AGTCCCATACAATGAGACACTTTGGC -3'
(R):5'- ACCACCAGGTTCCGAAAGTGGTAG -3'

Sequencing Primer
(F):5'- CTAGCTCACAGAATACACTGCG -3'
(R):5'- ggagtgggtgggttggg -3'

Posted On

2014-05-23