Mutagenetix > Incidental Mutation

Incidental Mutation 'R0148:Tkt'

22675

Institutional Source

Beutler Lab

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

MMRRC Submission

038432-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0148 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30294177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 529 (I529N)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

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

AlphaFold

P40142

Predicted Effect

probably damaging
Transcript: ENSMUST00000022529
AA Change: I529N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: I529N

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: ENSMUST00000160406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223633

Predicted Effect

unknown
Transcript: ENSMUST00000223717
AA Change: I407N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225857

Meta Mutation Damage Score

0.9559

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

86% (30/35)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Agtr1a	T	C	13: 30,565,927 (GRCm39)	S331P	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Bahcc1	A	T	11: 120,159,230 (GRCm39)	Q152H	probably damaging	Het
Bend3	T	A	10: 43,387,946 (GRCm39)	Y780N	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Efl1	T	C	7: 82,320,878 (GRCm39)	S104P	probably damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fbln1	G	A	15: 85,115,027 (GRCm39)	R193H	probably damaging	Het
Fbxw21	A	G	9: 108,977,085 (GRCm39)		probably null	Het
Fgf17	C	T	14: 70,876,313 (GRCm39)	R49Q	probably damaging	Het
Flnb	T	C	14: 7,939,077 (GRCm38)	S2307P	probably benign	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Git1	A	G	11: 77,396,554 (GRCm39)	T601A	probably benign	Het
Gm10722	T	"C,A"	9: 3,001,405 (GRCm39)		probably null	Het
Gm5142	C	T	14: 59,416,119 (GRCm39)	R13H	possibly damaging	Het
Gria2	A	C	3: 80,615,038 (GRCm39)	W481G	probably damaging	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Il4ra	T	A	7: 125,174,709 (GRCm39)	C306S	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Lama3	G	A	18: 12,581,329 (GRCm39)	C596Y	probably damaging	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Marchf6	C	T	15: 31,490,758 (GRCm39)	V293M	probably damaging	Het
Med12l	A	G	3: 58,945,075 (GRCm39)	D100G	probably damaging	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mrpl53	T	C	6: 83,086,518 (GRCm39)	L74P	probably damaging	Het
Mvp	C	T	7: 126,589,037 (GRCm39)	V577M	probably damaging	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nipsnap3b	C	T	4: 53,017,088 (GRCm39)	A104V	possibly damaging	Het
Nlrp14	A	G	7: 106,781,928 (GRCm39)	Y375C	probably benign	Het
Nod1	A	G	6: 54,915,202 (GRCm39)	Y764H	probably damaging	Het
Or13d1	A	T	4: 52,971,232 (GRCm39)	I204F	probably benign	Het
Or2w25	G	A	11: 59,504,320 (GRCm39)	V177M	probably damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Peg10	C	A	6: 4,755,711 (GRCm39)	R96S	possibly damaging	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,401,059 (GRCm39)	H29L	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Ryr1	C	A	7: 28,751,460 (GRCm39)	R3706L	probably damaging	Het
Ryr2	T	C	13: 11,729,434 (GRCm39)	D2396G	probably damaging	Het
Slc45a2	T	C	15: 11,025,954 (GRCm39)	S435P	probably damaging	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tep1	A	T	14: 51,062,246 (GRCm39)	D2535E	possibly damaging	Het
Trp53i11	T	G	2: 93,028,080 (GRCm39)	V39G	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Usp3	A	G	9: 66,447,449 (GRCm39)	V219A	possibly damaging	Het
Usp4	T	A	9: 108,268,870 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Xkr6	T	C	14: 64,056,998 (GRCm39)	V303A	unknown	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfhx2	A	G	14: 55,310,354 (GRCm39)	Y731H	possibly damaging	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
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
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'- AGTCTGCTCTAACAGTCGGTCCAC -3'
(R):5'- AGTATAGCTGAGACCTGGCCTCTTC -3'

Sequencing Primer
(F):5'- GGAGAAGAGCTATTCTCAATGGTG -3'
(R):5'- GGAACTTAAAGTGGTGTCTACCTC -3'

Posted On

2013-04-16