Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01351:Tktl2'

75343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tktl2

Ensembl Gene

ENSMUSG00000025519

Gene Name

transketolase-like 2

Synonyms

4933401I19Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

IGL01351

Quality Score

Status

Chromosome

Chromosomal Location

66511756-66518335 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66512896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 369 (I369V)

Ref Sequence

ENSEMBL: ENSMUSP00000138388 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002025
AA Change: I369V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: I369V

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 benign
Transcript: ENSMUST00000183187
AA Change: I369V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: I369V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,267,565	S336P	probably benign	Het
Abca9	T	C	11: 110,148,903	Y428C	probably damaging	Het
Alpk1	T	C	3: 127,672,362	Q1165R	probably damaging	Het
Angel2	C	A	1: 190,933,113	N80K	probably benign	Het
Bmp6	T	C	13: 38,469,634	S226P	probably damaging	Het
Ccar2	T	C	14: 70,145,862	T229A	probably benign	Het
Cdh12	G	A	15: 21,237,903	V75M	probably damaging	Het
Cdh6	G	T	15: 13,034,240	A778E	possibly damaging	Het
Corin	A	T	5: 72,338,991	C540S	probably damaging	Het
Cyfip1	C	A	7: 55,898,243	Y530*	probably null	Het
Dock10	T	G	1: 80,593,159	K327N	probably damaging	Het
Dpy19l3	A	G	7: 35,727,415		probably benign	Het
E2f8	T	C	7: 48,867,151	T827A	probably benign	Het
Edem3	T	C	1: 151,792,385	V305A	possibly damaging	Het
Fam170a	T	C	18: 50,281,778	W164R	probably benign	Het
Fam208a	A	G	14: 27,464,301	E819G	probably benign	Het
Fbxw14	T	C	9: 109,274,572	D24G	possibly damaging	Het
Gnmt	T	C	17: 46,726,680	D124G	probably benign	Het
Gpx5	T	C	13: 21,287,499	D178G	probably damaging	Het
Gsdmd	T	A	15: 75,864,337	I105N	probably damaging	Het
Hps5	C	T	7: 46,761,432	M1113I	probably damaging	Het
Hyal6	T	C	6: 24,734,179	F37S	probably damaging	Het
Il17c	C	T	8: 122,422,123	T2I	probably benign	Het
Lyz1	A	G	10: 117,291,188	C48R	probably damaging	Het
Olfr670	T	A	7: 104,960,739		probably benign	Het
Pafah1b3	G	A	7: 25,295,145	R215C	possibly damaging	Het
Psmb4	A	T	3: 94,886,227		probably null	Het
Rnf213	T	C	11: 119,483,118	V5009A	probably benign	Het
Sema6a	T	C	18: 47,281,302	K494E	possibly damaging	Het
Sfmbt1	T	C	14: 30,769,820	V17A	probably benign	Het
Speg	T	A	1: 75,411,276		probably benign	Het
Spint1	A	G	2: 119,246,455	D340G	probably damaging	Het
Tctn3	T	C	19: 40,607,637	I309V	probably benign	Het
Tex19.1	T	A	11: 121,147,246	D143E	probably damaging	Het
Tm2d2	A	G	8: 25,020,557		probably benign	Het
Traf4	C	A	11: 78,165,400	R14L	possibly damaging	Het
Zfhx4	A	G	3: 5,401,136	Y2118C	probably damaging	Het
Zmynd15	C	A	11: 70,463,590	N425K	probably benign	Het

Other mutations in Tktl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7687:Tktl2	UTSW	8	66513101	missense	probably damaging	1.00
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

Posted On

2013-10-07