Incidental Mutation 'IGL02195:Gatb'
ID284032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatb
Ensembl Gene ENSMUSG00000028085
Gene Nameglutamyl-tRNA(Gln) amidotransferase, subunit B
SynonymsPet112, Pet112l, 9430026F02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL02195
Quality Score
Status
Chromosome3
Chromosomal Location85574119-85655622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85604448 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 170 (Y170F)
Ref Sequence ENSEMBL: ENSMUSP00000103301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107672] [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029726
Predicted Effect probably benign
Transcript: ENSMUST00000107672
AA Change: Y170F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: Y170F

DomainStartEndE-ValueType
Pfam:GatB_N 65 353 8.3e-103 PFAM
Pfam:GatB_Yqey 406 472 6.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107674
AA Change: Y170F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: Y170F

DomainStartEndE-ValueType
Pfam:GatB_N 64 354 6.7e-105 PFAM
GatB_Yqey 406 518 2.09e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127348
AA Change: Y170F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: Y170F

DomainStartEndE-ValueType
Pfam:GatB_N 65 353 8.3e-101 PFAM
GatB_Yqey 406 555 4.13e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Kif4 T C X: 100,726,216 F1154S probably damaging Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Meioc C A 11: 102,674,857 T433K possibly damaging Het
Mtmr7 A G 8: 40,560,905 V204A probably damaging Het
Nus1 A G 10: 52,433,369 D91G probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Trim72 A T 7: 128,007,964 M222L probably damaging Het
Other mutations in Gatb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gatb APN 3 85601920 missense possibly damaging 0.95
IGL00963:Gatb APN 3 85618948 missense probably benign 0.00
IGL01363:Gatb APN 3 85652345 missense probably damaging 1.00
IGL01650:Gatb APN 3 85613484 missense possibly damaging 0.68
IGL01973:Gatb APN 3 85611424 missense probably damaging 1.00
IGL02670:Gatb APN 3 85613551 splice site probably null
IGL02992:Gatb APN 3 85618916 missense probably damaging 1.00
IGL03025:Gatb APN 3 85575874 missense probably damaging 0.99
IGL03035:Gatb APN 3 85601947 missense probably damaging 1.00
IGL03090:Gatb APN 3 85619023 intron probably benign
R1313:Gatb UTSW 3 85653826 missense probably benign 0.01
R1851:Gatb UTSW 3 85618877 missense probably damaging 0.99
R1852:Gatb UTSW 3 85618877 missense probably damaging 0.99
R2134:Gatb UTSW 3 85611370 missense probably damaging 1.00
R2209:Gatb UTSW 3 85653805 missense probably benign 0.03
R5189:Gatb UTSW 3 85636931 missense probably benign 0.00
R5218:Gatb UTSW 3 85604444 missense probably benign
R5857:Gatb UTSW 3 85575932 missense probably damaging 1.00
R5871:Gatb UTSW 3 85653776 nonsense probably null
R6031:Gatb UTSW 3 85613511 missense possibly damaging 0.82
R6031:Gatb UTSW 3 85613511 missense possibly damaging 0.82
R6430:Gatb UTSW 3 85637038 missense probably benign 0.01
R6661:Gatb UTSW 3 85652419 splice site probably null
R7184:Gatb UTSW 3 85636951 nonsense probably null
R7210:Gatb UTSW 3 85574220 missense probably benign
R7501:Gatb UTSW 3 85636990 missense probably damaging 0.99
R7919:Gatb UTSW 3 85604521 missense probably damaging 1.00
R8335:Gatb UTSW 3 85574321 critical splice donor site probably null
R8536:Gatb UTSW 3 85604561 missense probably damaging 0.99
X0013:Gatb UTSW 3 85601861 missense probably damaging 1.00
Z1177:Gatb UTSW 3 85636973 missense probably damaging 1.00
Posted On2015-04-16