Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00843:Tdh'

14414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdh

Ensembl Gene

ENSMUSG00000021953

Gene Name

L-threonine dehydrogenase

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

63492347-63509092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63495764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 178 (T178A)

Ref Sequence

ENSEMBL: ENSMUSP00000132119 (fasta)

Gene Model

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

AlphaFold

Q8K3F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022522
AA Change: T193A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: T193A

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 damaging
Transcript: ENSMUST00000165776
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
AA Change: T128A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168488
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
AA Change: T128A

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: T178A

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

SMART Domains

Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: T178A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,384,350		probably null	Het
Clcn2	T	C	16: 20,703,641	T772A	probably benign	Het
Cldn18	A	T	9: 99,698,821	F125I	probably benign	Het
Ehhadh	A	G	16: 21,762,629	S538P	possibly damaging	Het
Ets2	T	G	16: 95,709,793	F32V	probably benign	Het
F5	G	A	1: 164,211,791	R1990Q	probably benign	Het
Fetub	A	G	16: 22,929,629		probably benign	Het
Hecw1	C	T	13: 14,247,573	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240	M332T	probably benign	Het
Hmcn1	A	G	1: 150,610,713	I4314T	possibly damaging	Het
Impad1	T	C	4: 4,776,308		probably benign	Het
Lonrf2	C	A	1: 38,812,535		probably benign	Het
Lrrc9	T	C	12: 72,463,417	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,757,058	V1606A	possibly damaging	Het
Oog2	G	T	4: 144,195,172	L217F	probably damaging	Het
Plxnc1	T	C	10: 94,847,549	H791R	probably benign	Het
Prdm2	G	A	4: 143,134,314	S802L	probably damaging	Het
Prss32	T	A	17: 23,857,362	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,691,273	V1337E	probably benign	Het
Slc15a3	T	A	19: 10,853,263	M326K	probably null	Het
Slc25a54	A	T	3: 109,112,860	T397S	possibly damaging	Het
Slfn3	C	T	11: 83,213,431	T376M	probably damaging	Het
Stradb	T	A	1: 58,994,409	D410E	probably benign	Het
Tspan12	T	A	6: 21,851,082		probably benign	Het
Ube2b	A	T	11: 51,995,375	D50E	probably benign	Het
Zranb1	A	C	7: 132,949,893	H117P	probably benign	Het

Other mutations in Tdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5295: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

Posted On

2012-12-06