Mutagenetix > Incidental Mutation

Incidental Mutation 'R2135:Tktl2'

235721

Institutional Source

Beutler Lab

Gene Symbol

Tktl2

Ensembl Gene

ENSMUSG00000025519

Gene Name

transketolase-like 2

Synonyms

4933401I19Rik

MMRRC Submission

040138-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R2135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66964408-66970987 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66964999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 186 (V186M)

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: V186M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002025
Gene: ENSMUSG00000025519
AA Change: V186M

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: V186M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138388
Gene: ENSMUSG00000025519
AA Change: V186M

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

Meta Mutation Damage Score

0.1037

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,509 (GRCm39)	H116Q	probably benign	Het
Adamts16	C	A	13: 70,949,126 (GRCm39)	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,672,676 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,114,509 (GRCm39)	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,032,498 (GRCm39)	L253P	probably damaging	Het
Arap3	T	C	18: 38,107,509 (GRCm39)	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,403,712 (GRCm39)	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,868,760 (GRCm39)	I574N	probably damaging	Het
Cecr2	C	T	6: 120,697,923 (GRCm39)	T74M	probably damaging	Het
Ces5a	C	A	8: 94,226,369 (GRCm39)	E481D	probably benign	Het
Cfap74	C	G	4: 155,514,397 (GRCm39)	N544K	probably damaging	Het
Cfap74	T	A	4: 155,514,408 (GRCm39)	L548Q	probably damaging	Het
Cfb	C	T	17: 35,076,254 (GRCm39)	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,845,433 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,123,604 (GRCm39)	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,429 (GRCm39)		probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Ermp1	T	C	19: 29,623,465 (GRCm39)	D119G	possibly damaging	Het
Ext1	G	T	15: 52,965,140 (GRCm39)	Q409K	possibly damaging	Het
Fat4	A	T	3: 39,034,882 (GRCm39)	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,941,771 (GRCm39)	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,583 (GRCm39)	T305A	probably benign	Het
Gbx1	G	T	5: 24,731,220 (GRCm39)	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,044,638 (GRCm39)	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,700,726 (GRCm39)	D572V	probably damaging	Het
Idh1	A	C	1: 65,201,078 (GRCm39)	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,356,551 (GRCm39)	Y330C	probably damaging	Het
Kdm4a	A	G	4: 117,999,656 (GRCm39)	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,215 (GRCm39)	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,070,609 (GRCm39)	S96P	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Marchf6	A	T	15: 31,509,910 (GRCm39)	C26*	probably null	Het
Msra	G	A	14: 64,360,657 (GRCm39)	P228L	probably damaging	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mycbp2	A	T	14: 103,383,378 (GRCm39)	D395E	probably benign	Het
Ncr1	C	A	7: 4,343,756 (GRCm39)		probably benign	Het
Nkd1	T	C	8: 89,318,278 (GRCm39)	I201T	probably benign	Het
Nsrp1	A	T	11: 76,945,834 (GRCm39)		probably benign	Het
Or2t48	A	C	11: 58,420,611 (GRCm39)	I67S	probably damaging	Het
Or7e177	T	A	9: 20,211,593 (GRCm39)	D32E	probably benign	Het
Pate5	A	C	9: 35,750,479 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,700,707 (GRCm39)	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,526,225 (GRCm39)	H281Q	possibly damaging	Het
Ppp2r3d	A	C	9: 101,088,757 (GRCm39)	M522R	probably damaging	Het
Prdm12	T	C	2: 31,530,325 (GRCm39)	F72S	possibly damaging	Het
Prima1	A	T	12: 103,168,949 (GRCm39)	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,627,965 (GRCm39)	H142R	probably benign	Het
Rasgrf2	G	A	13: 92,120,374 (GRCm39)	A793V	probably benign	Het
Rbsn	T	A	6: 92,166,854 (GRCm39)	M597L	probably benign	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Rp9	T	C	9: 22,379,425 (GRCm39)	K25E	possibly damaging	Het
Sec31b	T	C	19: 44,523,135 (GRCm39)	S211G	probably damaging	Het
Shank2	C	T	7: 143,964,971 (GRCm39)	P1070S	probably damaging	Het
Sla	A	G	15: 66,654,563 (GRCm39)	V241A	probably benign	Het
Slc25a40	A	G	5: 8,477,489 (GRCm39)	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,685,608 (GRCm39)	S164P	probably benign	Het
Slc7a5	A	T	8: 122,610,444 (GRCm39)	W457R	probably null	Het
Slco6c1	A	G	1: 97,032,542 (GRCm39)	M303T	probably benign	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Tecta	A	C	9: 42,251,581 (GRCm39)	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,319,313 (GRCm39)	H280Q	probably benign	Het
Tmem30b	A	G	12: 73,592,107 (GRCm39)	L336P	probably damaging	Het
Tmem94	A	G	11: 115,685,575 (GRCm39)	I943V	probably benign	Het
Tshb	A	G	3: 102,685,464 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,818,035 (GRCm39)	V116A	probably benign	Het
Vmn2r76	A	G	7: 85,880,219 (GRCm39)	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,295,067 (GRCm39)	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,292,826 (GRCm39)	R2108G	possibly damaging	Het

Other mutations in Tktl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Tktl2	APN	8	66,965,548 (GRCm39)	missense	probably benign	0.00
IGL02444:Tktl2	APN	8	66,966,013 (GRCm39)	missense	possibly damaging	0.60
IGL02798:Tktl2	APN	8	66,965,963 (GRCm39)	missense	probably benign	0.06
IGL02938:Tktl2	APN	8	66,964,982 (GRCm39)	missense	probably damaging	1.00
IGL03095:Tktl2	APN	8	66,964,936 (GRCm39)	missense	probably damaging	1.00
R0530:Tktl2	UTSW	8	66,965,831 (GRCm39)	missense	probably damaging	0.99
R0899:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R0900:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1080:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1419:Tktl2	UTSW	8	66,965,690 (GRCm39)	missense	probably damaging	0.97
R1609:Tktl2	UTSW	8	66,965,504 (GRCm39)	missense	probably benign	0.04
R1717:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1718:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1719:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1848:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1933:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R1934:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R2134:Tktl2	UTSW	8	66,964,999 (GRCm39)	missense	probably damaging	0.98
R2314:Tktl2	UTSW	8	66,965,795 (GRCm39)	missense	probably damaging	1.00
R2509:Tktl2	UTSW	8	66,965,504 (GRCm39)	missense	probably benign	0.04
R2511:Tktl2	UTSW	8	66,965,504 (GRCm39)	missense	probably benign	0.04
R2965:Tktl2	UTSW	8	66,964,715 (GRCm39)	missense	probably benign	0.01
R3084:Tktl2	UTSW	8	66,965,858 (GRCm39)	missense	possibly damaging	0.88
R3085:Tktl2	UTSW	8	66,965,858 (GRCm39)	missense	possibly damaging	0.88
R3121:Tktl2	UTSW	8	66,964,808 (GRCm39)	missense	probably damaging	0.98
R3499:Tktl2	UTSW	8	66,965,897 (GRCm39)	missense	probably damaging	0.97
R4227:Tktl2	UTSW	8	66,966,351 (GRCm39)	splice site	probably null
R4284:Tktl2	UTSW	8	66,965,808 (GRCm39)	missense	probably damaging	1.00
R4491:Tktl2	UTSW	8	66,964,664 (GRCm39)	missense	probably damaging	0.96
R5478:Tktl2	UTSW	8	66,966,050 (GRCm39)	missense	probably damaging	0.99
R5801:Tktl2	UTSW	8	66,966,299 (GRCm39)	missense	probably benign	0.00
R6656:Tktl2	UTSW	8	66,965,381 (GRCm39)	missense	probably benign
R6864:Tktl2	UTSW	8	66,964,991 (GRCm39)	missense	probably damaging	1.00
R6915:Tktl2	UTSW	8	66,965,687 (GRCm39)	missense	probably damaging	1.00
R7168:Tktl2	UTSW	8	66,965,753 (GRCm39)	missense	probably damaging	1.00
R7442:Tktl2	UTSW	8	66,965,561 (GRCm39)	missense	possibly damaging	0.95
R7617:Tktl2	UTSW	8	66,965,651 (GRCm39)	missense	probably benign	0.07
R7687:Tktl2	UTSW	8	66,965,753 (GRCm39)	missense	probably damaging	1.00
R8825:Tktl2	UTSW	8	66,966,319 (GRCm39)	missense	possibly damaging	0.87
R9155:Tktl2	UTSW	8	66,965,858 (GRCm39)	missense	possibly damaging	0.88
R9176:Tktl2	UTSW	8	66,964,664 (GRCm39)	missense	probably damaging	0.96
R9352:Tktl2	UTSW	8	66,965,974 (GRCm39)	missense	possibly damaging	0.88
R9514:Tktl2	UTSW	8	66,965,840 (GRCm39)	missense	probably damaging	0.98
R9633:Tktl2	UTSW	8	66,965,813 (GRCm39)	missense	probably benign	0.25
RF006:Tktl2	UTSW	8	66,965,504 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AATTCACTGCGACCTGGAGG -3'
(R):5'- AGGGCAGTAGGCTTATTCTTGAC -3'

Sequencing Primer
(F):5'- AACAGGGTCCCTTGGGCAAG -3'
(R):5'- GACTTGAGCTGCTTTCCAAAAGG -3'

Posted On

2014-10-01