Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Tkt'

288332

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30292992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 490 (G490S)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

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

AlphaFold

P40142

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022529
AA Change: G490S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: G490S

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

noncoding transcript
Transcript: ENSMUST00000225039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225857

Meta Mutation Damage Score

0.1712

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,326 (GRCm39)	E344G	probably damaging	Het
Actrt2	T	C	4: 154,751,255 (GRCm39)	T294A	probably benign	Het
Afg1l	C	A	10: 42,330,506 (GRCm39)	E54*	probably null	Het
Ahi1	T	C	10: 20,847,933 (GRCm39)	I447T	probably damaging	Het
Akap6	T	C	12: 53,187,212 (GRCm39)	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,612,033 (GRCm39)	S103A	possibly damaging	Het
Apc	C	T	18: 34,448,863 (GRCm39)	Q1886*	probably null	Het
Bcas3	A	G	11: 85,386,671 (GRCm39)	T148A	probably damaging	Het
Bud13	A	G	9: 46,194,350 (GRCm39)	T8A	probably benign	Het
Casr	A	T	16: 36,330,072 (GRCm39)	Y421N	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,600 (GRCm39)	Y49C	probably benign	Het
Clasp2	T	C	9: 113,697,794 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,619,082 (GRCm39)	T686A	probably benign	Het
Cntln	T	A	4: 84,968,026 (GRCm39)	H748Q	probably benign	Het
Dmtf1	A	T	5: 9,170,056 (GRCm39)	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 77,899,152 (GRCm39)	K117R	probably damaging	Het
Eif2a	T	C	3: 58,456,024 (GRCm39)	M341T	possibly damaging	Het
Epg5	T	A	18: 78,056,047 (GRCm39)	Y1740*	probably null	Het
Fam149b	C	T	14: 20,413,369 (GRCm39)	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,778,899 (GRCm39)		probably null	Het
Fbxo3	T	A	2: 103,878,296 (GRCm39)	N232K	probably benign	Het
Gnl3	A	C	14: 30,739,359 (GRCm39)	H16Q	probably damaging	Het
Gpld1	T	G	13: 25,166,757 (GRCm39)	V669G	probably damaging	Het
Grik3	A	G	4: 125,579,783 (GRCm39)		probably benign	Het
Gzmg	A	C	14: 56,394,729 (GRCm39)	Y180D	probably benign	Het
H2-M9	A	T	17: 36,951,633 (GRCm39)	Y281N	probably damaging	Het
Katnip	T	A	7: 125,442,001 (GRCm39)	S637T	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,188,940 (GRCm39)	I125F	probably damaging	Het
Nfam1	T	A	15: 82,907,152 (GRCm39)	N15I	probably benign	Het
Nol8	T	A	13: 49,808,721 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,348 (GRCm39)	V6483A	possibly damaging	Het
Or2a56	A	T	6: 42,932,917 (GRCm39)	I162F	probably benign	Het
Osbpl3	A	G	6: 50,323,306 (GRCm39)		probably null	Het
Plaat3	G	A	19: 7,552,357 (GRCm39)	W24*	probably null	Het
Ppfibp2	A	T	7: 107,337,836 (GRCm39)	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,183,772 (GRCm39)	V277A	probably damaging	Het
Robo3	G	A	9: 37,333,497 (GRCm39)	A716V	probably benign	Het
Scart1	G	T	7: 139,808,572 (GRCm39)	A828S	probably benign	Het
Semp2l1	A	T	1: 32,584,785 (GRCm39)	L375*	probably null	Het
Slc29a4	A	G	5: 142,703,407 (GRCm39)	E227G	probably damaging	Het
Slf1	T	C	13: 77,199,413 (GRCm39)	D656G	possibly damaging	Het
Sox1	A	G	8: 12,446,692 (GRCm39)	H111R	possibly damaging	Het
Spmip9	A	G	6: 70,890,679 (GRCm39)		probably benign	Het
Svep1	G	A	4: 58,070,236 (GRCm39)	Q2517*	probably null	Het
Syndig1	G	T	2: 149,741,707 (GRCm39)	V98L	probably benign	Het
Synpo2	T	C	3: 122,911,183 (GRCm39)	E154G	probably benign	Het
Tmem200a	T	C	10: 25,869,328 (GRCm39)	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,479,009 (GRCm39)	T100S	probably damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trim12c	C	T	7: 103,997,473 (GRCm39)	A28T	probably benign	Het
Trpc7	C	A	13: 56,931,564 (GRCm39)	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,869,800 (GRCm39)	R575G	probably null	Het
Ttn	T	G	2: 76,681,919 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,553,609 (GRCm39)	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,398,423 (GRCm39)		probably benign	Het
Uqcrb	A	T	13: 67,050,874 (GRCm39)		probably benign	Het
Usp33	T	A	3: 152,076,024 (GRCm39)	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,816,399 (GRCm39)	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,286,113 (GRCm39)	I204F	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
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
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

Posted On

2015-04-16