Incidental Mutation 'IGL01363:Gatb'
ID 75843
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 # IGL01363
Quality Score
Status
Chromosome 3
Chromosomal Location 85481426-85562929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85559652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 492 (L492P)
Ref Sequence ENSEMBL: ENSMUSP00000119949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]
AlphaFold Q99JT1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029726
Predicted Effect probably damaging
Transcript: ENSMUST00000107674
AA Change: L492P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: L492P

DomainStartEndE-ValueType
Pfam:GatB_N 64 354 6.7e-105 PFAM
GatB_Yqey 406 518 2.09e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127348
AA Change: L492P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: L492P

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,483 (GRCm39) F23S probably damaging Het
Abcg3 A G 5: 105,096,228 (GRCm39) V528A possibly damaging Het
Adgrv1 A G 13: 81,705,184 (GRCm39) V1542A probably damaging Het
Alkbh3 A G 2: 93,833,396 (GRCm39) probably null Het
Ang4 G T 14: 52,001,636 (GRCm39) T104K probably benign Het
Arhgef3 T A 14: 27,123,876 (GRCm39) C532* probably null Het
Bnip3 G A 7: 138,499,777 (GRCm39) T70I probably benign Het
Cast T C 13: 74,852,311 (GRCm39) E644G possibly damaging Het
Cenpc1 A T 5: 86,194,390 (GRCm39) C125* probably null Het
Crb2 C A 2: 37,683,845 (GRCm39) R1116S probably benign Het
Cyp2c67 T G 19: 39,628,411 (GRCm39) I178L probably damaging Het
Cyp2c68 T A 19: 39,691,871 (GRCm39) M351L probably benign Het
Dusp1 G A 17: 26,725,264 (GRCm39) P365L probably damaging Het
Igkv8-19 T C 6: 70,318,083 (GRCm39) S48G probably damaging Het
Isyna1 G A 8: 71,047,372 (GRCm39) V32I probably damaging Het
Itgb6 T A 2: 60,441,726 (GRCm39) N695Y possibly damaging Het
Klra8 T C 6: 130,092,561 (GRCm39) T247A probably benign Het
Mak G A 13: 41,206,853 (GRCm39) probably benign Het
Minar2 G A 18: 59,205,380 (GRCm39) G98D probably damaging Het
Mndal T A 1: 173,685,022 (GRCm39) T516S possibly damaging Het
Mphosph9 G T 5: 124,400,084 (GRCm39) T939K probably damaging Het
Nfrkb A G 9: 31,325,667 (GRCm39) T1037A possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or8c9 A G 9: 38,240,999 (GRCm39) T39A probably benign Het
Pard3b A G 1: 62,676,799 (GRCm39) Y1011C probably damaging Het
Parm1 G A 5: 91,760,877 (GRCm39) V250M probably damaging Het
Pgap2 T G 7: 101,875,489 (GRCm39) M1R probably null Het
Phlpp2 T C 8: 110,663,729 (GRCm39) F923L probably benign Het
Polr1a T A 6: 71,925,470 (GRCm39) M739K probably benign Het
Pramel1 A G 4: 143,123,955 (GRCm39) Y210C probably benign Het
Pramel27 A T 4: 143,579,846 (GRCm39) Y477F probably benign Het
Raver2 A G 4: 100,977,780 (GRCm39) probably benign Het
Rb1cc1 C T 1: 6,320,333 (GRCm39) L1251F probably benign Het
Ros1 T A 10: 52,042,238 (GRCm39) Y238F probably damaging Het
Shroom3 T C 5: 93,088,852 (GRCm39) L534P probably benign Het
Tjp1 A T 7: 64,952,713 (GRCm39) F1540L possibly damaging Het
Tmem200b C A 4: 131,649,704 (GRCm39) P208Q probably benign Het
Tmem236 T C 2: 14,179,441 (GRCm39) L14P probably damaging Het
Tubgcp6 A T 15: 88,991,728 (GRCm39) I623N probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Vmn2r98 A G 17: 19,286,020 (GRCm39) N173D 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
IGL01650:Gatb APN 3 85,520,791 (GRCm39) missense possibly damaging 0.68
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 2013-10-07