Mutagenetix > Incidental Mutation

Incidental Mutation 'R5240:Tkt'

472454

Institutional Source

Beutler Lab

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

MMRRC Submission

042811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30287635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 210 (G210C)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022529]

AlphaFold

P40142

Predicted Effect

probably damaging
Transcript: ENSMUST00000022529
AA Change: G210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: G210C

Domain	Start	End	E-Value	Type
Pfam:Transketolase_N	14	284	1.4e-46	PFAM
Pfam:E1_dh	108	239	6.9e-11	PFAM
Transket_pyr	315	479	1.52e-42	SMART
Pfam:Transketolase_C	490	612	3.9e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223633

Predicted Effect

probably benign
Transcript: ENSMUST00000223717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225857

Meta Mutation Damage Score

0.9633

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: This gene encodes an enzyme that binds magnesium and thiamine pyrophosphate and catalyzes the transfer of sugar phosphates to an aldose acceptor. This enzyme is a key component of the pentose phosphate pathway during glycolysis. It is significantly expressed in the cornea and may be involved in the cellular response against oxidative stress. Haploinsufficiency of this gene leads to decreased growth and reduction of adipose tissue. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation die at or before the morula stage. Heterozygotes show reduced growth, decreased fat accumulation, microphthalmia, and reduced female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	C	3: 59,659,449 (GRCm39)	T301P	probably damaging	Het
Cdc42bpg	T	G	19: 6,365,929 (GRCm39)	L786R	probably damaging	Het
Cfap73	C	T	5: 120,767,772 (GRCm39)	V260I	probably damaging	Het
Chchd10	A	T	10: 75,773,283 (GRCm39)	N131I	probably damaging	Het
Chn2	T	C	6: 54,197,680 (GRCm39)	V190A	probably benign	Het
Clec2l	C	T	6: 38,650,387 (GRCm39)	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,151,915 (GRCm39)	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 25,061,960 (GRCm39)	E643G	probably damaging	Het
Ddx31	A	G	2: 28,736,042 (GRCm39)	M127V	probably benign	Het
Dennd1b	A	G	1: 138,990,615 (GRCm39)	Y193C	probably damaging	Het
Dgke	T	A	11: 88,941,511 (GRCm39)	D288V	probably damaging	Het
Dst	T	A	1: 34,247,639 (GRCm39)	L1683*	probably null	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,428,018 (GRCm39)		probably benign	Het
Eif2b5	G	A	16: 20,320,148 (GRCm39)	V115I	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fgfr3	A	T	5: 33,887,382 (GRCm39)	T234S	probably damaging	Het
Gipc2	A	T	3: 151,808,299 (GRCm39)	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810 (GRCm39)		noncoding transcript	Het
Haus6	A	G	4: 86,501,415 (GRCm39)	Y819H	possibly damaging	Het
Homez	G	A	14: 55,095,531 (GRCm39)	A59V	probably damaging	Het
Iffo1	T	C	6: 125,129,423 (GRCm39)	V363A	probably benign	Het
Ifit2	T	A	19: 34,551,796 (GRCm39)	D445E	probably benign	Het
Ipo9	A	C	1: 135,317,344 (GRCm39)		probably benign	Het
Kcnv1	C	T	15: 44,976,640 (GRCm39)	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,292,730 (GRCm39)		probably benign	Het
Mplkip	T	C	13: 17,870,304 (GRCm39)	S79P	probably damaging	Het
Nae1	T	C	8: 105,249,776 (GRCm39)		probably benign	Het
Nfe2l2	A	T	2: 75,506,353 (GRCm39)	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,138,754 (GRCm39)	R297C	probably damaging	Het
Or1e1f	T	C	11: 73,855,632 (GRCm39)	L66P	probably damaging	Het
Or3a1d	T	A	11: 74,238,068 (GRCm39)	D114V	probably damaging	Het
Or5p70	A	T	7: 107,994,909 (GRCm39)	D194V	probably damaging	Het
Osbp	T	A	19: 11,955,654 (GRCm39)	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,442,979 (GRCm39)	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,824,103 (GRCm39)	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,338,912 (GRCm39)		probably benign	Het
Pigo	C	A	4: 43,020,675 (GRCm39)	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,345,865 (GRCm39)	T2721K	probably benign	Het
Pls1	A	T	9: 95,658,675 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,519,397 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,589,711 (GRCm39)	I471N	probably benign	Het
Prrc2b	C	T	2: 32,096,408 (GRCm39)	T593I	probably benign	Het
Ptch2	C	A	4: 116,963,335 (GRCm39)		probably benign	Het
Pth	A	T	7: 112,985,051 (GRCm39)	D107E	probably damaging	Het
Pycr2	A	C	1: 180,735,188 (GRCm39)	Q315P	probably benign	Het
Rbpj	A	T	5: 53,806,782 (GRCm39)	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,544,967 (GRCm39)	R560L	probably damaging	Het
Sdr42e1	T	C	8: 118,390,021 (GRCm39)	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,388,362 (GRCm39)	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,316,875 (GRCm39)		probably null	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Sugp2	G	T	8: 70,695,925 (GRCm39)	L299F	probably benign	Het
Tbrg4	A	T	11: 6,567,516 (GRCm39)		probably null	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,771,854 (GRCm39)	I98T	probably benign	Het
Unc5b	A	G	10: 60,610,419 (GRCm39)	I466T	probably damaging	Het
Unc79	T	A	12: 103,037,010 (GRCm39)	F599L	probably damaging	Het
Vav1	G	A	17: 57,604,122 (GRCm39)	E151K	probably damaging	Het
Vcan	T	G	13: 89,840,651 (GRCm39)	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,314,358 (GRCm39)	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,186,642 (GRCm39)	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,220,527 (GRCm39)		probably benign	Het
Znhit1	T	A	5: 137,011,235 (GRCm39)		probably null	Het

Other mutations in Tkt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Tkt	APN	14	30,291,052 (GRCm39)	missense	probably damaging	1.00
IGL02122:Tkt	APN	14	30,293,158 (GRCm39)	missense	possibly damaging	0.95
IGL02323:Tkt	APN	14	30,292,992 (GRCm39)	missense	possibly damaging	0.69
IGL02326:Tkt	APN	14	30,294,182 (GRCm39)	missense	probably damaging	0.99
IGL02554:Tkt	APN	14	30,280,737 (GRCm39)	missense	probably damaging	1.00
IGL03145:Tkt	APN	14	30,282,645 (GRCm39)	splice site	probably benign
R0148:Tkt	UTSW	14	30,294,177 (GRCm39)	missense	probably damaging	1.00
R0732:Tkt	UTSW	14	30,293,097 (GRCm39)	splice site	probably null
R1550:Tkt	UTSW	14	30,287,525 (GRCm39)	missense	probably damaging	1.00
R2218:Tkt	UTSW	14	30,289,018 (GRCm39)	critical splice donor site	probably null
R4464:Tkt	UTSW	14	30,290,231 (GRCm39)	missense	possibly damaging	0.86
R4771:Tkt	UTSW	14	30,288,982 (GRCm39)	missense	probably damaging	0.97
R4998:Tkt	UTSW	14	30,287,499 (GRCm39)	nonsense	probably null
R5123:Tkt	UTSW	14	30,287,603 (GRCm39)	missense	probably benign	0.11
R5283:Tkt	UTSW	14	30,282,575 (GRCm39)	missense	probably damaging	1.00
R5777:Tkt	UTSW	14	30,280,733 (GRCm39)	missense	possibly damaging	0.88
R6051:Tkt	UTSW	14	30,290,153 (GRCm39)	missense	probably benign	0.27
R6517:Tkt	UTSW	14	30,271,280 (GRCm39)	missense	probably damaging	0.96
R6645:Tkt	UTSW	14	30,292,168 (GRCm39)	missense	probably damaging	1.00
R6722:Tkt	UTSW	14	30,291,041 (GRCm39)	missense	probably damaging	1.00
R7120:Tkt	UTSW	14	30,281,779 (GRCm39)	missense	probably benign	0.03
R7179:Tkt	UTSW	14	30,281,815 (GRCm39)	missense	probably damaging	1.00
R7272:Tkt	UTSW	14	30,287,564 (GRCm39)	missense	probably damaging	1.00
R7274:Tkt	UTSW	14	30,291,102 (GRCm39)	splice site	probably null
R7402:Tkt	UTSW	14	30,280,755 (GRCm39)	missense	probably damaging	1.00
R7423:Tkt	UTSW	14	30,292,992 (GRCm39)	missense	possibly damaging	0.69
R7522:Tkt	UTSW	14	30,290,180 (GRCm39)	missense	possibly damaging	0.52
R7712:Tkt	UTSW	14	30,280,763 (GRCm39)	missense	probably benign	0.00
R8975:Tkt	UTSW	14	30,288,884 (GRCm39)	intron	probably benign
R9487:Tkt	UTSW	14	30,281,796 (GRCm39)	missense	probably damaging	1.00
R9487:Tkt	UTSW	14	30,281,795 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CTATTGCATGCTGGGAGACG -3'
(R):5'- AAATCTCAGGTAGGAAAGCCC -3'

Sequencing Primer
(F):5'- CTGGGAGACGGGGAGGTC -3'
(R):5'- TCTCTAGGGGAGGAAGCCTGTC -3'

Posted On

2017-04-03