Mutagenetix > Incidental Mutation

Incidental Mutation 'R5283:Tkt'

402894

Institutional Source

Beutler Lab

Gene Symbol

Tkt

Ensembl Gene

ENSMUSG00000021957

Gene Name

transketolase

Synonyms

p68

MMRRC Submission

042868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30271088-30296681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30282575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 124 (S124F)

Ref Sequence

ENSEMBL: ENSMUSP00000022529 (fasta)

Gene Model

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

AlphaFold

P40142

Predicted Effect

probably damaging
Transcript: ENSMUST00000022529
AA Change: S124F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022529
Gene: ENSMUSG00000021957
AA Change: S124F

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: ENSMUST00000160189

Predicted Effect

probably benign
Transcript: ENSMUST00000162356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223633

Predicted Effect

unknown
Transcript: ENSMUST00000223717
AA Change: S96F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225857

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	T	1: 74,323,165 (GRCm39)	E53K	possibly damaging	Het
Amotl1	T	C	9: 14,469,780 (GRCm39)	E651G	probably damaging	Het
Ankrd11	A	C	8: 123,610,921 (GRCm39)	V2655G	probably damaging	Het
Apbb1ip	G	A	2: 22,757,683 (GRCm39)	V434M	probably benign	Het
Atp5pd	T	C	11: 115,306,611 (GRCm39)	Y150C	probably damaging	Het
Ccdc13	T	A	9: 121,637,254 (GRCm39)	D75V	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Crh	T	C	3: 19,748,171 (GRCm39)	H157R	probably damaging	Het
Cstdc6	T	C	16: 36,142,205 (GRCm39)	D57G	probably damaging	Het
Dpp4	G	A	2: 62,190,680 (GRCm39)	T392I	probably damaging	Het
Ehd3	G	T	17: 74,127,498 (GRCm39)	A144S	probably benign	Het
Fnip2	A	T	3: 79,373,015 (GRCm39)	I1021N	probably damaging	Het
Fus	T	A	7: 127,584,719 (GRCm39)		probably benign	Het
Glo1	T	C	17: 30,819,047 (GRCm39)	T92A	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15130	A	C	2: 110,965,754 (GRCm39)	M165R	unknown	Het
Gon4l	T	C	3: 88,794,897 (GRCm39)	L700P	probably damaging	Het
Grm1	C	A	10: 10,608,936 (GRCm39)	D566Y	possibly damaging	Het
Guca1b	T	C	17: 47,702,195 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,600,747 (GRCm39)	M70V	probably damaging	Het
Hydin	G	T	8: 111,178,612 (GRCm39)	C1069F	possibly damaging	Het
Ints1	A	C	5: 139,750,137 (GRCm39)	L920R	probably damaging	Het
Kdm2a	T	C	19: 4,381,297 (GRCm39)	I54V	probably benign	Het
Kpna2	G	A	11: 106,881,658 (GRCm39)	T324I	probably damaging	Het
Lrr1	T	C	12: 69,221,428 (GRCm39)	L190S	probably damaging	Het
Lrrc49	A	T	9: 60,594,461 (GRCm39)	H16Q	probably benign	Het
Mab21l4	C	T	1: 93,087,575 (GRCm39)	D93N	probably benign	Het
Mapkap1	A	G	2: 34,334,360 (GRCm39)	E147G	probably damaging	Het
Mrpl2	C	T	17: 46,959,992 (GRCm39)	R219W	possibly damaging	Het
Muc21	A	G	17: 35,932,224 (GRCm39)		probably benign	Het
Ndc80	A	G	17: 71,828,130 (GRCm39)	S66P	probably benign	Het
Notch1	A	G	2: 26,358,638 (GRCm39)	Y1398H	probably damaging	Het
Olfml2b	C	T	1: 170,508,758 (GRCm39)	R539*	probably null	Het
Or6b9	T	A	7: 106,555,955 (GRCm39)	T63S	probably benign	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Plekhg1	G	A	10: 3,906,654 (GRCm39)	V524I	probably benign	Het
Plin4	T	A	17: 56,413,777 (GRCm39)	M283L	probably benign	Het
Prp2	C	T	6: 132,577,606 (GRCm39)	P298S	unknown	Het
Rap1gap2	G	A	11: 74,286,651 (GRCm39)	R550C	probably damaging	Het
Reln	G	A	5: 22,216,161 (GRCm39)	T1008I	probably damaging	Het
Rffl	T	C	11: 82,703,615 (GRCm39)	K103E	probably damaging	Het
Rmnd5b	A	T	11: 51,517,887 (GRCm39)	F156I	probably damaging	Het
Rtn4ip1	T	C	10: 43,778,461 (GRCm39)	I68T	probably damaging	Het
Samhd1	T	C	2: 156,951,412 (GRCm39)	I442V	possibly damaging	Het
Slc12a4	A	T	8: 106,677,326 (GRCm39)		probably null	Het
Slc35b1	G	T	11: 95,275,814 (GRCm39)		probably benign	Het
Ssh1	A	G	5: 114,088,606 (GRCm39)	V354A	probably damaging	Het
Stk33	T	C	7: 108,935,334 (GRCm39)	K153E	possibly damaging	Het
Stk4	C	T	2: 163,952,199 (GRCm39)	R19*	probably null	Het
Tas2r136	A	T	6: 132,754,374 (GRCm39)	I251N	probably damaging	Het
Tbr1	A	T	2: 61,635,244 (GRCm39)	T65S	probably benign	Het
Tll1	T	C	8: 64,555,000 (GRCm39)	I228V	possibly damaging	Het
Tmem236	A	G	2: 14,179,644 (GRCm39)	I82V	probably benign	Het
Vmn2r110	T	C	17: 20,800,899 (GRCm39)	Q511R	probably benign	Het
Vmn2r98	T	C	17: 19,300,981 (GRCm39)	M661T	probably benign	Het
Vps13a	T	A	19: 16,655,334 (GRCm39)	K1898I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	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
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'- TGCTGTCTGAATAAGAAGGGC -3'
(R):5'- TGCCTGTATCACCAGCTTCG -3'

Sequencing Primer
(F):5'- AAGGGCCTTCTTCTGCGGAG -3'
(R):5'- TATCACCAGCTTCGGGGCTTTG -3'

Posted On

2016-07-22