Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02326:Tkt'

288489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

30548359-30574720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30572225 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 531 (V531M)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022529
AA Change: V531M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: V531M

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: V409M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225857

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,671,402	V29A	unknown	Het
Abcc8	C	A	7: 46,122,857		probably null	Het
Ankar	A	T	1: 72,666,355	I614N	probably damaging	Het
Ash1l	G	A	3: 88,966,057	R49H	probably benign	Het
Atp8b1	T	C	18: 64,538,583	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,151,473	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,975,039	L485P	probably damaging	Het
Cobl	A	T	11: 12,386,712	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,418,797	V818A	unknown	Het
Csmd3	G	A	15: 47,755,963		probably benign	Het
Dpp6	A	G	5: 27,664,757	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,898,746	R96C	probably damaging	Het
Fam53a	T	C	5: 33,600,594	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,700,847	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,450,952	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,323,745	T430I	unknown	Het
Ighv1-53	T	A	12: 115,158,615	T47S	probably benign	Het
Ilk	C	A	7: 105,741,633	P261Q	probably damaging	Het
Ints10	T	G	8: 68,804,833	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,402,592	S782R	probably benign	Het
Map3k4	A	G	17: 12,249,010	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113	P374S	probably benign	Het
Olfr1106	G	A	2: 87,049,011	S75L	possibly damaging	Het
Olfr1152	T	A	2: 87,868,675	I228N	probably damaging	Het
Olfr1462	C	A	19: 13,191,415	Y249*	probably null	Het
Olfr670	T	A	7: 104,960,646	I29F	probably benign	Het
Pkd2	T	C	5: 104,477,075	Y246H	probably benign	Het
Plekha5	G	T	6: 140,583,850	G340*	probably null	Het
Plxna4	T	A	6: 32,152,905	M1828L	probably damaging	Het
Prex1	A	G	2: 166,621,185	I252T	probably benign	Het
Pura	A	G	18: 36,287,778	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713	F782I	probably damaging	Het
Rbp4	T	C	19: 38,124,115	D90G	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scn7a	C	A	2: 66,700,048	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,749,151		probably null	Het
Slc43a1	T	G	2: 84,849,771	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,187,273	T300A	probably benign	Het
Srgap2	T	A	1: 131,356,907		probably null	Het
Twsg1	T	C	17: 65,926,436	D173G	possibly damaging	Het
Ugt2b37	G	T	5: 87,241,002	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,423,733	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,258,270	I41T	probably benign	Het
Vwa5a	A	T	9: 38,737,956	T667S	probably benign	Het
Xrn2	A	G	2: 147,047,713	E672G	probably benign	Het
Zfp235	T	A	7: 24,135,302	M1K	probably null	Het
Zmym1	T	C	4: 127,047,760	E847G	probably damaging	Het

Other mutations in Tkt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Tkt	APN	14	30569095	missense	probably damaging	1.00
IGL02122:Tkt	APN	14	30571201	missense	possibly damaging	0.95
IGL02323:Tkt	APN	14	30571035	missense	possibly damaging	0.69
IGL02554:Tkt	APN	14	30558780	missense	probably damaging	1.00
IGL03145:Tkt	APN	14	30560688	splice site	probably benign
R0148:Tkt	UTSW	14	30572220	missense	probably damaging	1.00
R0732:Tkt	UTSW	14	30571140	splice site	probably null
R1550:Tkt	UTSW	14	30565568	missense	probably damaging	1.00
R2218:Tkt	UTSW	14	30567061	critical splice donor site	probably null
R4464:Tkt	UTSW	14	30568274	missense	possibly damaging	0.86
R4771:Tkt	UTSW	14	30567025	missense	probably damaging	0.97
R4998:Tkt	UTSW	14	30565542	nonsense	probably null
R5123:Tkt	UTSW	14	30565646	missense	probably benign	0.11
R5240:Tkt	UTSW	14	30565678	missense	probably damaging	1.00
R5283:Tkt	UTSW	14	30560618	missense	probably damaging	1.00
R5777:Tkt	UTSW	14	30558776	missense	possibly damaging	0.88
R6051:Tkt	UTSW	14	30568196	missense	probably benign	0.27
R6517:Tkt	UTSW	14	30549323	missense	probably damaging	0.96
R6645:Tkt	UTSW	14	30570211	missense	probably damaging	1.00
R6722:Tkt	UTSW	14	30569084	missense	probably damaging	1.00
R7120:Tkt	UTSW	14	30559822	missense	probably benign	0.03
R7179:Tkt	UTSW	14	30559858	missense	probably damaging	1.00
R7272:Tkt	UTSW	14	30565607	missense	probably damaging	1.00
R7274:Tkt	UTSW	14	30569145	splice site	probably null
R7402:Tkt	UTSW	14	30558798	missense	probably damaging	1.00
R7423:Tkt	UTSW	14	30571035	missense	possibly damaging	0.69
R7522:Tkt	UTSW	14	30568223	missense	possibly damaging	0.52
R7712:Tkt	UTSW	14	30558806	missense	probably benign	0.00

Posted On

2015-04-16