Mutagenetix > Incidental Mutation

Incidental Mutation 'R7272:Tkt'

565370

Institutional Source

Beutler Lab

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

MMRRC Submission

045391-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30287564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 186 (R186L)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

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

AlphaFold

P40142

Predicted Effect

probably damaging
Transcript: ENSMUST00000022529
AA Change: R186L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: R186L

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: ENSMUST00000223717

Meta Mutation Damage Score

0.9055

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,655 (GRCm39)	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,570,523 (GRCm39)	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,770,092 (GRCm39)	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,658,695 (GRCm39)	M202R	probably damaging	Het
Abca12	T	C	1: 71,287,591 (GRCm39)	E2450G	probably damaging	Het
Ank2	C	T	3: 126,736,782 (GRCm39)	R3034H	unknown	Het
Anxa9	A	G	3: 95,213,184 (GRCm39)	I54T	probably damaging	Het
Ash1l	A	G	3: 88,961,941 (GRCm39)		probably null	Het
Aspm	T	C	1: 139,386,066 (GRCm39)	I570T	probably benign	Het
Bcar3	A	T	3: 122,302,045 (GRCm39)	I247F	possibly damaging	Het
Cep350	A	G	1: 155,829,334 (GRCm39)	V130A	probably damaging	Het
Cep89	A	T	7: 35,137,888 (GRCm39)	R757S	probably benign	Het
Cryga	A	T	1: 65,142,381 (GRCm39)	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,676,764 (GRCm39)	Y194F	probably benign	Het
Edn2	G	A	4: 120,019,143 (GRCm39)	R44H	probably damaging	Het
Ep400	G	A	5: 110,903,511 (GRCm39)	Q363*	probably null	Het
Gpr33	T	C	12: 52,070,848 (GRCm39)	T64A	probably damaging	Het
Ice2	T	A	9: 69,324,365 (GRCm39)	S763T	possibly damaging	Het
Itgad	C	A	7: 127,804,245 (GRCm39)	F1169L	probably damaging	Het
Kcnv1	A	G	15: 44,976,576 (GRCm39)	L237P	probably benign	Het
Kctd18	T	C	1: 57,995,710 (GRCm39)	E356G	probably damaging	Het
Krt33a	C	T	11: 99,902,837 (GRCm39)	R329Q	probably damaging	Het
Lama2	C	A	10: 27,000,552 (GRCm39)	G1657C	probably damaging	Het
Marchf3	T	G	18: 56,895,593 (GRCm39)	R217S	probably benign	Het
Mmel1	A	T	4: 154,978,547 (GRCm39)	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,310,642 (GRCm39)	K59*	probably null	Het
Mss51	G	A	14: 20,534,981 (GRCm39)	T263I	probably damaging	Het
Ncaph2	A	G	15: 89,248,385 (GRCm39)	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,209 (GRCm39)	Q62*	probably null	Het
Nectin4	A	G	1: 171,214,212 (GRCm39)	T456A	probably damaging	Het
Nek1	T	C	8: 61,578,120 (GRCm39)	M1214T	probably benign	Het
Nsf	T	A	11: 103,718,064 (GRCm39)	L710F	probably damaging	Het
Nynrin	G	T	14: 56,107,872 (GRCm39)	G993V	probably damaging	Het
Or1e31	T	A	11: 73,689,695 (GRCm39)	D296V	probably damaging	Het
Pbk	T	A	14: 66,052,621 (GRCm39)	Y155N	probably damaging	Het
Plec	T	C	15: 76,059,153 (GRCm39)	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,409,941 (GRCm39)	T1072I	unknown	Het
Sdc1	T	A	12: 8,840,554 (GRCm39)	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,254,764 (GRCm39)	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,401,878 (GRCm39)	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,872,387 (GRCm39)	Y783C	probably benign	Het
Sorl1	C	T	9: 41,975,006 (GRCm39)		probably null	Het
Spindoc	C	T	19: 7,360,085 (GRCm39)	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,064,859 (GRCm39)	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,907,200 (GRCm39)	D210E	probably benign	Het
Stx12	A	T	4: 132,584,687 (GRCm39)	I219K	possibly damaging	Het
Syne2	T	C	12: 76,095,417 (GRCm39)	V508A	probably benign	Het
Trmt10a	T	A	3: 137,860,527 (GRCm39)	M241K	probably damaging	Het
Vgll2	C	A	10: 51,903,758 (GRCm39)	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,545,543 (GRCm39)	F190S	probably damaging	Het
Xpot	C	T	10: 121,453,094 (GRCm39)		probably null	Het
Yrdc	G	A	4: 124,744,820 (GRCm39)	A85T	probably benign	Het
Zfp385c	C	T	11: 100,520,865 (GRCm39)	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,392,409 (GRCm39)	I1310F	probably 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
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
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'- ATAGGCTGCCTGATAGGTTTTC -3'
(R):5'- CTCACGGTCAACTTACGGAG -3'

Sequencing Primer
(F):5'- GTATTGAGAGCTTCACACTCCCAGG -3'
(R):5'- GGTCAACTTACGGAGCCTGTATAC -3'

Posted On

2019-06-26