Incidental Mutation 'R7218:Tdh'
ID 561612
Institutional Source Beutler Lab
Gene Symbol Tdh
Ensembl Gene ENSMUSG00000021953
Gene Name L-threonine dehydrogenase
Synonyms
MMRRC Submission 045290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R7218 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 63729796-63746541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63733206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 195 (Y195F)
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: Y195F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: Y195F

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 probably damaging
Transcript: ENSMUST00000165776
AA Change: Y130F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
AA Change: Y130F

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: Y130F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
AA Change: Y130F

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: Y180F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: Y180F

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 46,043,977 (GRCm39) T94A unknown Het
1700025G04Rik T C 1: 151,791,259 (GRCm39) R101G probably damaging Het
6430548M08Rik T A 8: 120,872,322 (GRCm39) S83R probably damaging Het
Actn2 A G 13: 12,293,799 (GRCm39) S574P probably benign Het
Ank A T 15: 27,544,407 (GRCm39) Y56F probably damaging Het
Ano7 A G 1: 93,308,191 (GRCm39) D74G probably benign Het
Apaf1 T A 10: 90,872,864 (GRCm39) T738S probably damaging Het
Apcs A T 1: 172,722,231 (GRCm39) D38E possibly damaging Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Atp8a1 T A 5: 67,860,324 (GRCm39) D717V Het
Baiap2l1 A G 5: 144,212,687 (GRCm39) S443P probably benign Het
Bmal1 A T 7: 112,886,390 (GRCm39) H149L probably damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,574 (GRCm39) E34G probably benign Het
Chil3 A C 3: 106,067,853 (GRCm39) probably null Het
Chmp4c T A 3: 10,432,198 (GRCm39) L36Q probably damaging Het
Chrna2 T A 14: 66,381,320 (GRCm39) probably null Het
Clec1a C T 6: 129,413,918 (GRCm39) C57Y probably damaging Het
Clec7a G T 6: 129,445,885 (GRCm39) T95K probably damaging Het
Csf1r C A 18: 61,263,396 (GRCm39) S926R probably damaging Het
Dnajc9 A G 14: 20,438,507 (GRCm39) I61T probably benign Het
Extl1 T G 4: 134,087,080 (GRCm39) S493R probably benign Het
Fance A G 17: 28,545,148 (GRCm39) D143G probably benign Het
Fcho2 C T 13: 98,890,121 (GRCm39) probably null Het
Filip1 T C 9: 79,725,356 (GRCm39) S1088G probably benign Het
Gnat1 A C 9: 107,553,184 (GRCm39) M319R possibly damaging Het
Gpr132 A T 12: 112,816,049 (GRCm39) V259E probably damaging Het
Gprc5d T A 6: 135,093,452 (GRCm39) M152L probably benign Het
Hif3a C T 7: 16,784,513 (GRCm39) R244H probably damaging Het
Hivep3 T C 4: 119,952,649 (GRCm39) S322P possibly damaging Het
Il33 T A 19: 29,936,325 (GRCm39) F229I probably damaging Het
Il4ra A G 7: 125,174,950 (GRCm39) D386G probably benign Het
Ino80 G T 2: 119,288,608 (GRCm39) H33N probably benign Het
Ip6k1 A G 9: 107,922,781 (GRCm39) D228G unknown Het
Mamdc2 C T 19: 23,424,974 (GRCm39) A40T probably benign Het
Meis3 T C 7: 15,918,626 (GRCm39) V357A probably benign Het
Mycbp2 T C 14: 103,371,282 (GRCm39) T4199A probably benign Het
Myo7b A T 18: 32,114,054 (GRCm39) M1099K probably benign Het
Mzb1 A T 18: 35,780,975 (GRCm39) H104Q probably benign Het
Nfatc2 A G 2: 168,413,184 (GRCm39) L167P probably benign Het
Numa1 A T 7: 101,650,117 (GRCm39) S1283C probably benign Het
Nup98 T G 7: 101,841,107 (GRCm39) probably null Het
Or13p4 T C 4: 118,547,215 (GRCm39) I145V probably benign Het
Or5p55 T C 7: 107,566,874 (GRCm39) L90P probably benign Het
Pkhd1l1 A G 15: 44,386,091 (GRCm39) T1243A possibly damaging Het
Pramel39-ps C A 5: 94,451,113 (GRCm39) V338F probably benign Het
Ptpro C T 6: 137,431,596 (GRCm39) R1152W probably damaging Het
Ptprt T C 2: 161,389,284 (GRCm39) T1270A probably damaging Het
Pwwp2b A C 7: 138,836,049 (GRCm39) T497P probably damaging Het
Rab44 T A 17: 29,358,418 (GRCm39) V202E Het
Rbfox1 C T 16: 7,111,947 (GRCm39) T191I probably damaging Het
Rufy4 A G 1: 74,172,174 (GRCm39) K299R probably damaging Het
Snip1 T A 4: 124,966,712 (GRCm39) S381T probably damaging Het
Spen T C 4: 141,199,961 (GRCm39) I2889V possibly damaging Het
Spopfm2 A T 3: 94,082,856 (GRCm39) H318Q possibly damaging Het
St3gal3 T A 4: 117,814,639 (GRCm39) D218V Het
Sun1 A G 5: 139,212,442 (GRCm39) T70A unknown Het
Tbc1d23 C T 16: 56,990,745 (GRCm39) V678M probably damaging Het
Tescl C T 7: 24,033,286 (GRCm39) R13H possibly damaging Het
Tfap2c T A 2: 172,399,277 (GRCm39) M508K probably benign Het
Trappc4 A G 9: 44,316,587 (GRCm39) M136T probably benign Het
Tyk2 A G 9: 21,016,350 (GRCm39) C1207R probably damaging Het
Ugt2b36 T C 5: 87,229,398 (GRCm39) Y355C probably damaging Het
Vmn1r119 T A 7: 20,745,572 (GRCm39) H270L probably benign Het
Vmn2r20 G A 6: 123,363,074 (GRCm39) P570L probably damaging Het
Wnk1 A C 6: 119,979,234 (GRCm39) Y284* probably null Het
Yars2 C T 16: 16,121,182 (GRCm39) A112V probably damaging Het
Zer1 T C 2: 29,995,024 (GRCm39) N470S probably damaging Het
Zfp747l1 A T 7: 126,983,852 (GRCm39) S417T probably benign Het
Zfp879 A C 11: 50,723,508 (GRCm39) V516G possibly damaging Het
Other mutations in Tdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Tdh APN 14 63,733,213 (GRCm39) missense probably damaging 1.00
IGL02047:Tdh APN 14 63,734,407 (GRCm39) missense probably benign 0.07
R0126:Tdh UTSW 14 63,735,042 (GRCm39) splice site probably benign
R1530:Tdh UTSW 14 63,733,504 (GRCm39) missense probably damaging 1.00
R3748:Tdh UTSW 14 63,733,442 (GRCm39) missense probably benign 0.26
R4589:Tdh UTSW 14 63,733,326 (GRCm39) missense probably damaging 1.00
R4646:Tdh UTSW 14 63,731,205 (GRCm39) missense possibly damaging 0.51
R4647:Tdh UTSW 14 63,731,205 (GRCm39) missense possibly damaging 0.51
R4648:Tdh UTSW 14 63,731,205 (GRCm39) missense possibly damaging 0.51
R5038:Tdh UTSW 14 63,733,575 (GRCm39) nonsense probably null
R5275:Tdh UTSW 14 63,733,558 (GRCm39) missense probably damaging 1.00
R5295:Tdh UTSW 14 63,733,558 (GRCm39) missense probably damaging 1.00
R6319:Tdh UTSW 14 63,733,186 (GRCm39) missense probably benign 0.00
R6825:Tdh UTSW 14 63,733,281 (GRCm39) missense probably damaging 0.99
R7528:Tdh UTSW 14 63,731,460 (GRCm39) missense probably damaging 1.00
R7732:Tdh UTSW 14 63,733,507 (GRCm39) missense probably damaging 1.00
R8238:Tdh UTSW 14 63,733,173 (GRCm39) missense probably damaging 1.00
R8492:Tdh UTSW 14 63,730,269 (GRCm39) missense probably damaging 1.00
R9010:Tdh UTSW 14 63,737,704 (GRCm39) missense probably benign 0.00
R9043:Tdh UTSW 14 63,730,278 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCAAGCGTCTTACCACTTGAC -3'
(R):5'- GGCAAATGTGTCCTTAGCCAG -3'

Sequencing Primer
(F):5'- GCGTCTTACCACTTGACAAACAC -3'
(R):5'- AGATTGTTTGTGCCCAGC -3'
Posted On 2019-06-26