Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Tdh'

405376

Institutional Source

Beutler Lab

Gene Symbol

Tdh

Ensembl Gene

ENSMUSG00000021953

Gene Name

L-threonine dehydrogenase

Synonyms

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63492347-63509092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63496109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 110 (Y110C)

Ref Sequence

ENSEMBL: ENSMUSP00000022522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022522] [ENSMUST00000165776] [ENSMUST00000168488] [ENSMUST00000168669]

AlphaFold

Q8K3F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022522
AA Change: Y110C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: Y110C

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	56	252	3.3e-10	PFAM
Pfam:Epimerase	58	294	5.8e-22	PFAM
Pfam:3Beta_HSD	59	185	7e-9	PFAM
Pfam:GDP_Man_Dehyd	59	359	1.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164515

Predicted Effect

probably benign
Transcript: ENSMUST00000165776

SMART Domains

Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953

Domain	Start	End	E-Value	Type
SCOP:d1kc0a_	42	149	3e-11	SMART
PDB:3A4V\|B	43	144	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168488

SMART Domains

Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953

Domain	Start	End	E-Value	Type
SCOP:d1kc0a_	42	140	5e-11	SMART
PDB:3A4V\|B	43	148	1e-18	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000168669
AA Change: Y95C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: Y95C

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	41	205	6.9e-10	PFAM
Pfam:Polysacc_synt_2	43	164	2.2e-6	PFAM
Pfam:Epimerase	43	200	9.2e-13	PFAM
Pfam:3Beta_HSD	44	168	5.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170772

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Tdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Tdh	APN	14	63495764	missense	probably damaging	1.00
IGL02047:Tdh	APN	14	63496958	missense	probably benign	0.07
R0126:Tdh	UTSW	14	63497593	splice site	probably benign
R1530:Tdh	UTSW	14	63496055	missense	probably damaging	1.00
R3748:Tdh	UTSW	14	63495993	missense	probably benign	0.26
R4589:Tdh	UTSW	14	63495877	missense	probably damaging	1.00
R4646:Tdh	UTSW	14	63493756	missense	possibly damaging	0.51
R4647:Tdh	UTSW	14	63493756	missense	possibly damaging	0.51
R4648:Tdh	UTSW	14	63493756	missense	possibly damaging	0.51
R5038:Tdh	UTSW	14	63496126	nonsense	probably null
R5275:Tdh	UTSW	14	63496109	missense	probably damaging	1.00
R6319:Tdh	UTSW	14	63495737	missense	probably benign	0.00
R6825:Tdh	UTSW	14	63495832	missense	probably damaging	0.99
R7218:Tdh	UTSW	14	63495757	missense	probably damaging	1.00
R7528:Tdh	UTSW	14	63494011	missense	probably damaging	1.00
R7732:Tdh	UTSW	14	63496058	missense	probably damaging	1.00
R8238:Tdh	UTSW	14	63495724	missense	probably damaging	1.00
R8492:Tdh	UTSW	14	63492820	missense	probably damaging	1.00
R9010:Tdh	UTSW	14	63500255	missense	probably benign	0.00
R9043:Tdh	UTSW	14	63492829	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACCAAGAGCCGGAACAACTG -3'
(R):5'- TGGCTGTTAACCCAGTGCTC -3'

Sequencing Primer
(F):5'- AACTGGCCCCCACTGAG -3'
(R):5'- CTGTTAACCCAGTGCTCAGAAGG -3'

Posted On

2016-07-22