Mutagenetix > Incidental Mutation

Incidental Mutation 'R7712:Tkt'

594700

Institutional Source

Beutler Lab

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

MMRRC Submission

045770-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30280763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 65 (N65D)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022529] [ENSMUST00000162356]

AlphaFold

P40142

Predicted Effect

probably benign
Transcript: ENSMUST00000022529
AA Change: N65D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: N65D

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

probably benign
Transcript: ENSMUST00000162356

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,303,799 (GRCm39)	D74A	probably benign	Het
Alox15	T	C	11: 70,241,079 (GRCm39)		probably null	Het
Ano5	A	G	7: 51,222,805 (GRCm39)	T455A	probably benign	Het
Ano5	T	G	7: 51,240,403 (GRCm39)	I827S	probably damaging	Het
Arid1a	G	A	4: 133,479,922 (GRCm39)	A334V	probably benign	Het
Atp13a4	A	G	16: 29,278,305 (GRCm39)	C298R		Het
Atp4a	T	A	7: 30,414,978 (GRCm39)	S256T	probably damaging	Het
Atp6v1c1	G	A	15: 38,687,049 (GRCm39)	V215I	probably benign	Het
Bbs9	T	A	9: 22,582,109 (GRCm39)	F600L	probably benign	Het
Bmp8b	A	T	4: 123,018,257 (GRCm39)	Y376F	possibly damaging	Het
Cacna2d1	A	T	5: 16,567,347 (GRCm39)	D986V	probably damaging	Het
Ccdc162	A	G	10: 41,503,223 (GRCm39)	F973S	possibly damaging	Het
Ccdc177	G	A	12: 80,804,712 (GRCm39)	Q521*	probably null	Het
Cd209b	T	A	8: 3,973,299 (GRCm39)	E158D	possibly damaging	Het
Cdk14	G	A	5: 5,430,061 (GRCm39)	T22I	possibly damaging	Het
Chl1	A	T	6: 103,688,063 (GRCm39)	I968F	possibly damaging	Het
Cnot7	T	C	8: 40,947,122 (GRCm39)	Y255C	probably damaging	Het
Col4a2	T	A	8: 11,475,376 (GRCm39)	L600H	probably benign	Het
Cpne7	C	A	8: 123,850,920 (GRCm39)	L129M	probably damaging	Het
Cpxm2	G	T	7: 131,756,107 (GRCm39)	P79Q	possibly damaging	Het
Dhx9	T	A	1: 153,340,747 (GRCm39)	N631I	probably benign	Het
Dmxl1	T	C	18: 50,026,528 (GRCm39)	S1879P	probably damaging	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Dok7	A	G	5: 35,223,866 (GRCm39)	N98S	probably damaging	Het
Fgd2	A	G	17: 29,595,886 (GRCm39)	T515A	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gm5796	A	G	14: 15,379,960 (GRCm39)	Y90C	probably damaging	Het
H60b	C	A	10: 22,161,637 (GRCm39)	H42N	possibly damaging	Het
Hipk2	A	G	6: 38,680,569 (GRCm39)	S924P	probably benign	Het
Hpf1	C	A	8: 61,358,613 (GRCm39)	S27*	probably null	Het
Idua	T	G	5: 108,829,388 (GRCm39)	D443E	probably benign	Het
Lamc2	C	T	1: 153,009,357 (GRCm39)	G816D	possibly damaging	Het
Lgi3	T	A	14: 70,768,551 (GRCm39)	V16E	unknown	Het
Lpar1	T	A	4: 58,486,795 (GRCm39)	M159L	probably benign	Het
Magi2	A	G	5: 20,755,280 (GRCm39)	D618G	possibly damaging	Het
Man2b2	C	G	5: 36,967,658 (GRCm39)	Q903H	probably benign	Het
Marchf7	A	T	2: 60,065,334 (GRCm39)	K537*	probably null	Het
Mcoln1	T	C	8: 3,555,873 (GRCm39)	F56S	probably damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo1b	A	T	1: 51,832,836 (GRCm39)	M383K	probably damaging	Het
Or12k7	A	T	2: 36,958,916 (GRCm39)	T200S	probably damaging	Het
Or1f19	T	C	16: 3,410,295 (GRCm39)	F12L	probably damaging	Het
Or8a1b	T	C	9: 37,623,429 (GRCm39)	I49V	probably damaging	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pcdha8	A	C	18: 37,125,737 (GRCm39)	D73A	possibly damaging	Het
Pcdhga8	C	T	18: 37,860,102 (GRCm39)	T386M	possibly damaging	Het
Pdzd2	G	T	15: 12,407,422 (GRCm39)	T346N	probably damaging	Het
Pik3c2b	A	G	1: 133,013,349 (GRCm39)	Q781R	probably damaging	Het
Pp2d1	T	A	17: 53,815,318 (GRCm39)	T469S	possibly damaging	Het
Sectm1a	G	A	11: 120,959,631 (GRCm39)	L166F	probably damaging	Het
Sgms1	T	A	19: 32,120,169 (GRCm39)	M246L	probably benign	Het
Shroom3	G	A	5: 93,098,806 (GRCm39)	G1429S	probably benign	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Sowahb	C	T	5: 93,191,240 (GRCm39)	S493N	probably benign	Het
Spc25	T	A	2: 69,036,481 (GRCm39)	R7S	unknown	Het
Sult2b1	A	G	7: 45,379,620 (GRCm39)	I308T	probably benign	Het
Ttc5	A	T	14: 51,010,769 (GRCm39)	S221T	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Wipf1	A	C	2: 73,274,805 (GRCm39)	S55R	probably damaging	Het
Zdbf2	T	C	1: 63,344,530 (GRCm39)	S970P	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp362	A	T	4: 128,671,203 (GRCm39)	H313Q	probably benign	Het
Zfy2	T	A	Y: 2,121,420 (GRCm39)	I158F	probably benign	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
R5240:Tkt	UTSW	14	30,287,635 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTGACACATGCCAGAATGG -3'
(R):5'- TGTACCCTGCTTTGAAGAGTC -3'

Sequencing Primer
(F):5'- CTGACACATGCCAGAATGGATGTTG -3'
(R):5'- AGAGTCTTTCTGATGTACCAGGCTAC -3'

Posted On

2019-11-12