Incidental Mutation 'IGL01363:Gatb'
ID75843
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: 0.956) question?
Stock #IGL01363
Quality Score
Status
Chromosome3
Chromosomal Location85574119-85655622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85652345 bp
ZygosityHeterozygous
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]
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: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Abcg3 A G 5: 104,948,362 V528A possibly damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Arhgef3 T A 14: 27,401,919 C532* probably null Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Igkv8-19 T C 6: 70,341,099 S48G probably damaging Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mndal T A 1: 173,857,456 T516S possibly damaging Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Pramel1 A G 4: 143,397,385 Y210C probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign 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
IGL01650:Gatb APN 3 85613484 missense possibly damaging 0.68
IGL01973:Gatb APN 3 85611424 missense probably damaging 1.00
IGL02195:Gatb APN 3 85604448 missense probably benign 0.00
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
X0013:Gatb UTSW 3 85601861 missense probably damaging 1.00
Z1177:Gatb UTSW 3 85636973 missense probably damaging 1.00
Posted On2013-10-07