Incidental Mutation 'IGL01658:Tha1'
ID103088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tha1
Ensembl Gene ENSMUSG00000017713
Gene Namethreonine aldolase 1
SynonymsGLY1, 1300017K07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL01658
Quality Score
Status
Chromosome11
Chromosomal Location117867952-117873481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117871612 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 102 (L102P)
Ref Sequence ENSEMBL: ENSMUSP00000033230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033230]
Predicted Effect probably damaging
Transcript: ENSMUST00000033230
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033230
Gene: ENSMUSG00000017713
AA Change: L102P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Beta_elim_lyase 42 334 4.6e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153989
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm A G 7: 80,463,941 S1203P probably damaging Het
Cdc25a C A 9: 109,876,126 probably null Het
Cstf1 T A 2: 172,373,073 I38N probably benign Het
Fam168a C A 7: 100,812,973 P42T possibly damaging Het
Fstl5 A G 3: 76,482,255 Q253R possibly damaging Het
Gpr26 C T 7: 131,984,105 T268I probably benign Het
Herc2 T A 7: 56,159,452 Y2567N probably damaging Het
Hspg2 C T 4: 137,564,926 T4035I probably damaging Het
Iqgap3 G A 3: 88,115,971 R523Q possibly damaging Het
Mad2l1 T A 6: 66,537,602 V85E possibly damaging Het
Mical2 T C 7: 112,314,998 Y292H probably damaging Het
Myom2 T C 8: 15,077,880 S239P probably damaging Het
Ncoa3 T C 2: 166,051,302 probably benign Het
Nthl1 A G 17: 24,634,845 T155A probably benign Het
Olfr237-ps1 T A 6: 43,153,850 S182T probably damaging Het
Plcxd2 T G 16: 45,965,061 E327A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Satb1 C A 17: 51,775,251 M458I probably benign Het
Smarcal1 T C 1: 72,586,131 S146P probably benign Het
Taf4b T C 18: 14,844,420 S750P probably damaging Het
Trf A G 9: 103,226,856 F103L probably benign Het
Trim2 T C 3: 84,210,285 I8V probably benign Het
Usf1 C T 1: 171,417,299 S177L possibly damaging Het
Usp12 T C 5: 146,751,929 D205G probably damaging Het
Vps13b A G 15: 35,671,333 T1661A probably damaging Het
Other mutations in Tha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Tha1 APN 11 117871005 splice site probably benign
IGL01434:Tha1 APN 11 117868599 missense probably benign 0.31
R0437:Tha1 UTSW 11 117868575 missense probably benign 0.17
R0671:Tha1 UTSW 11 117873157 splice site probably benign
R1958:Tha1 UTSW 11 117869353 unclassified probably benign
R2127:Tha1 UTSW 11 117869774 missense probably damaging 0.98
R3416:Tha1 UTSW 11 117873200 missense possibly damaging 0.67
R4825:Tha1 UTSW 11 117869379 missense probably damaging 1.00
R5145:Tha1 UTSW 11 117869676 missense probably damaging 1.00
R5266:Tha1 UTSW 11 117869676 missense probably damaging 1.00
R5267:Tha1 UTSW 11 117869676 missense probably damaging 1.00
R5339:Tha1 UTSW 11 117871082 missense possibly damaging 0.87
R5858:Tha1 UTSW 11 117873384 missense unknown
R6820:Tha1 UTSW 11 117871678 missense probably benign 0.00
R7399:Tha1 UTSW 11 117869690 missense possibly damaging 0.86
R7706:Tha1 UTSW 11 117869455 missense probably damaging 1.00
R7905:Tha1 UTSW 11 117871067 missense possibly damaging 0.91
R8094:Tha1 UTSW 11 117868497 missense probably benign 0.00
R8322:Tha1 UTSW 11 117868667 missense probably damaging 0.97
Posted On2014-01-21