Incidental Mutation 'IGL00843:Tdh'
ID14414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdh
Ensembl Gene ENSMUSG00000021953
Gene NameL-threonine dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL00843
Quality Score
Status
Chromosome14
Chromosomal Location63492347-63509092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63495764 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2012-12-06