Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Tktl2'

191124

Institutional Source

Beutler Lab

Gene Symbol

Tktl2

Ensembl Gene

ENSMUSG00000025519

Gene Name

transketolase-like 2

Synonyms

4933401I19Rik

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R1717 (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: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably 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
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
R2135: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'- TGGAATGGCTTACACCGGCAAATAC -3'
(R):5'- CTGATCCTGGGCGAGTCTTCAATG -3'

Sequencing Primer
(F):5'- TACTTTGACAAGGCCAGCTAC -3'
(R):5'- GGAATACCTCTACCCTTGAAGGTC -3'

Posted On

2014-05-14