Incidental Mutation 'IGL01650:Gatb'
ID 102810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatb
Ensembl Gene ENSMUSG00000028085
Gene Name glutamyl-tRNA amidotransferase subunit B
Synonyms 9430026F02Rik, Pet112, Pet112l
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01650
Quality Score
Status
Chromosome 3
Chromosomal Location 85481426-85562929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85520791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 300 (I300T)
Ref Sequence ENSEMBL: ENSMUSP00000103301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107672] [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]
AlphaFold Q99JT1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029726
Predicted Effect probably benign
Transcript: ENSMUST00000107672
AA Change: I300T

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I300T

DomainStartEndE-ValueType
Pfam:GatB_N 65 353 8.3e-103 PFAM
Pfam:GatB_Yqey 406 472 6.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107674
AA Change: I300T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I300T

DomainStartEndE-ValueType
Pfam:GatB_N 64 354 6.7e-105 PFAM
GatB_Yqey 406 518 2.09e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127348
AA Change: I300T

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I300T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,070,067 (GRCm39) D281G probably damaging Het
Arhgap28 T C 17: 68,180,127 (GRCm39) E236G probably damaging Het
Bltp1 G A 3: 37,046,822 (GRCm39) probably benign Het
Btbd3 A T 2: 138,126,025 (GRCm39) D334V probably damaging Het
Cabp4 T C 19: 4,189,323 (GRCm39) E78G probably benign Het
Clcn4 T C 7: 7,287,280 (GRCm39) probably benign Het
Col14a1 A G 15: 55,270,089 (GRCm39) Y600C unknown Het
Cpne4 A G 9: 104,778,710 (GRCm39) D167G probably damaging Het
Eif3a T A 19: 60,762,434 (GRCm39) I450F probably damaging Het
Enpp2 T A 15: 54,783,329 (GRCm39) Y10F probably benign Het
Fam227a A T 15: 79,518,274 (GRCm39) H339Q possibly damaging Het
Far2 C A 6: 148,074,985 (GRCm39) T406K possibly damaging Het
Fmo1 A G 1: 162,661,153 (GRCm39) S377P probably benign Het
Fsip2 G A 2: 82,821,430 (GRCm39) S5721N probably benign Het
Gpam T C 19: 55,070,132 (GRCm39) N375D probably benign Het
Gsdma G T 11: 98,564,513 (GRCm39) D331Y probably damaging Het
Kif13b T C 14: 65,002,594 (GRCm39) V1073A probably benign Het
Mfsd4b1 T A 10: 39,879,115 (GRCm39) M261L probably benign Het
Nav1 A T 1: 135,382,498 (GRCm39) D1321E probably damaging Het
Or4f59 A G 2: 111,872,720 (GRCm39) I219T possibly damaging Het
Or52j3 A G 7: 102,836,286 (GRCm39) I159M probably benign Het
Or6c69 A G 10: 129,747,550 (GRCm39) V199A probably benign Het
Or6c76b T A 10: 129,692,936 (GRCm39) L183Q probably damaging Het
Or8g32 G T 9: 39,305,252 (GRCm39) S55I probably damaging Het
Ppp1r10 G T 17: 36,242,053 (GRCm39) R857L unknown Het
Prune2 T A 19: 17,145,656 (GRCm39) I2752N possibly damaging Het
Pxdn T C 12: 30,052,400 (GRCm39) I859T probably benign Het
Ros1 T C 10: 52,031,075 (GRCm39) D510G probably damaging Het
Sema3g C A 14: 30,943,744 (GRCm39) P208H probably benign Het
Smcr8 T C 11: 60,669,010 (GRCm39) F53L probably damaging Het
Tnfsf13b A T 8: 10,081,411 (GRCm39) I219F probably damaging Het
Vmn1r62 T C 7: 5,679,024 (GRCm39) V235A probably damaging Het
Vmn2r44 C A 7: 8,383,103 (GRCm39) probably null Het
Zkscan7 A G 9: 122,723,892 (GRCm39) D287G probably benign Het
Other mutations in Gatb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Gatb APN 3 85,509,227 (GRCm39) missense possibly damaging 0.95
IGL00963:Gatb APN 3 85,526,255 (GRCm39) missense probably benign 0.00
IGL01363:Gatb APN 3 85,559,652 (GRCm39) missense probably damaging 1.00
IGL01973:Gatb APN 3 85,518,731 (GRCm39) missense probably damaging 1.00
IGL02195:Gatb APN 3 85,511,755 (GRCm39) missense probably benign 0.00
IGL02670:Gatb APN 3 85,520,858 (GRCm39) splice site probably null
IGL02992:Gatb APN 3 85,526,223 (GRCm39) missense probably damaging 1.00
IGL03025:Gatb APN 3 85,483,181 (GRCm39) missense probably damaging 0.99
IGL03035:Gatb APN 3 85,509,254 (GRCm39) missense probably damaging 1.00
IGL03090:Gatb APN 3 85,526,330 (GRCm39) intron probably benign
R1313:Gatb UTSW 3 85,561,133 (GRCm39) missense probably benign 0.01
R1313:Gatb UTSW 3 85,561,133 (GRCm39) missense probably benign 0.01
R1851:Gatb UTSW 3 85,526,184 (GRCm39) missense probably damaging 0.99
R1852:Gatb UTSW 3 85,526,184 (GRCm39) missense probably damaging 0.99
R2134:Gatb UTSW 3 85,518,677 (GRCm39) missense probably damaging 1.00
R2209:Gatb UTSW 3 85,561,112 (GRCm39) missense probably benign 0.03
R5189:Gatb UTSW 3 85,544,238 (GRCm39) missense probably benign 0.00
R5218:Gatb UTSW 3 85,511,751 (GRCm39) missense probably benign
R5857:Gatb UTSW 3 85,483,239 (GRCm39) missense probably damaging 1.00
R5871:Gatb UTSW 3 85,561,083 (GRCm39) nonsense probably null
R6031:Gatb UTSW 3 85,520,818 (GRCm39) missense possibly damaging 0.82
R6031:Gatb UTSW 3 85,520,818 (GRCm39) missense possibly damaging 0.82
R6430:Gatb UTSW 3 85,544,345 (GRCm39) missense probably benign 0.01
R6661:Gatb UTSW 3 85,559,726 (GRCm39) splice site probably null
R7184:Gatb UTSW 3 85,544,258 (GRCm39) nonsense probably null
R7210:Gatb UTSW 3 85,481,527 (GRCm39) missense probably benign
R7501:Gatb UTSW 3 85,544,297 (GRCm39) missense probably damaging 0.99
R7919:Gatb UTSW 3 85,511,828 (GRCm39) missense probably damaging 1.00
R8335:Gatb UTSW 3 85,481,628 (GRCm39) critical splice donor site probably null
R8536:Gatb UTSW 3 85,511,868 (GRCm39) missense probably damaging 0.99
R8867:Gatb UTSW 3 85,511,716 (GRCm39) missense probably damaging 1.00
R9312:Gatb UTSW 3 85,561,070 (GRCm39) missense probably damaging 1.00
R9330:Gatb UTSW 3 85,559,801 (GRCm39) missense probably benign 0.03
X0013:Gatb UTSW 3 85,509,168 (GRCm39) missense probably damaging 1.00
Z1177:Gatb UTSW 3 85,544,280 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21