Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Tktl2'

593154

Institutional Source

Beutler Lab

Gene Symbol

Tktl2

Ensembl Gene

ENSMUSG00000025519

Gene Name

transketolase-like 2

Synonyms

4933401I19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66511756-66518335 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66513101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 437 (E437G)

Ref Sequence

ENSEMBL: ENSMUSP00000138388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002025] [ENSMUST00000183187]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002025
AA Change: E437G

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

SMART Domains

Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: E437G

Domain	Start	End	E-Value	Type
Pfam:DXP_synthase_N	2	195	2.4e-9	PFAM
Pfam:Transketolase_N	16	281	4.6e-50	PFAM
Pfam:TPP_enzyme_C	108	250	5.9e-8	PFAM
Pfam:E1_dh	111	249	2.9e-13	PFAM
Transket_pyr	320	484	3.74e-51	SMART
Pfam:Transketolase_C	495	617	1.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183187
AA Change: E437G

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

SMART Domains

Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: E437G

Domain	Start	End	E-Value	Type
Pfam:DXP_synthase_N	2	197	8.2e-9	PFAM
Pfam:Transketolase_N	16	280	2.2e-86	PFAM
Pfam:TPP_enzyme_C	108	250	5.9e-8	PFAM
Pfam:E1_dh	110	251	2.1e-14	PFAM
Transket_pyr	320	484	3.74e-51	SMART
Pfam:Transketolase_C	495	617	3.4e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Tktl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Tktl2	APN	8	66512896	missense	probably benign	0.00
IGL02444:Tktl2	APN	8	66513361	missense	possibly damaging	0.60
IGL02798:Tktl2	APN	8	66513311	missense	probably benign	0.06
IGL02938:Tktl2	APN	8	66512330	missense	probably damaging	1.00
IGL03095:Tktl2	APN	8	66512284	missense	probably damaging	1.00
R0530:Tktl2	UTSW	8	66513179	missense	probably damaging	0.99
R0899:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R0900:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1080:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1419:Tktl2	UTSW	8	66513038	missense	probably damaging	0.97
R1609:Tktl2	UTSW	8	66512852	missense	probably benign	0.04
R1717:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1718:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1719:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1848:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1933:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R1934:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R2134:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R2135:Tktl2	UTSW	8	66512347	missense	probably damaging	0.98
R2314:Tktl2	UTSW	8	66513143	missense	probably damaging	1.00
R2509:Tktl2	UTSW	8	66512852	missense	probably benign	0.04
R2511:Tktl2	UTSW	8	66512852	missense	probably benign	0.04
R2965:Tktl2	UTSW	8	66512063	missense	probably benign	0.01
R3084:Tktl2	UTSW	8	66513206	missense	possibly damaging	0.88
R3085:Tktl2	UTSW	8	66513206	missense	possibly damaging	0.88
R3121:Tktl2	UTSW	8	66512156	missense	probably damaging	0.98
R3499:Tktl2	UTSW	8	66513245	missense	probably damaging	0.97
R4227:Tktl2	UTSW	8	66513699	splice site	probably null
R4284:Tktl2	UTSW	8	66513156	missense	probably damaging	1.00
R4491:Tktl2	UTSW	8	66512012	missense	probably damaging	0.96
R5478:Tktl2	UTSW	8	66513398	missense	probably damaging	0.99
R5801:Tktl2	UTSW	8	66513647	missense	probably benign	0.00
R6656:Tktl2	UTSW	8	66512729	missense	probably benign
R6864:Tktl2	UTSW	8	66512339	missense	probably damaging	1.00
R6915:Tktl2	UTSW	8	66513035	missense	probably damaging	1.00
R7168:Tktl2	UTSW	8	66513101	missense	probably damaging	1.00
R7442:Tktl2	UTSW	8	66512909	missense	possibly damaging	0.95
R7617:Tktl2	UTSW	8	66512999	missense	probably benign	0.07
R8825:Tktl2	UTSW	8	66513667	missense	possibly damaging	0.87
R9155:Tktl2	UTSW	8	66513206	missense	possibly damaging	0.88
R9176:Tktl2	UTSW	8	66512012	missense	probably damaging	0.96
R9352:Tktl2	UTSW	8	66513322	missense	possibly damaging	0.88
R9514:Tktl2	UTSW	8	66513188	missense	probably damaging	0.98
R9633:Tktl2	UTSW	8	66513161	missense	probably benign	0.25
RF006:Tktl2	UTSW	8	66512852	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AAACATGGTAAGTGTGGCCC -3'
(R):5'- ACCTTGTCGACTGCACTCTG -3'

Sequencing Primer
(F):5'- TAAGTGTGGCCCTGGGG -3'
(R):5'- ACTCTGGCGGATCACCTTG -3'

Posted On

2019-11-12