Incidental Mutation 'IGL03025:Gatb'
ID408116
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: 0.962) question?
Stock #IGL03025
Quality Score
Status
Chromosome3
Chromosomal Location85574119-85655622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85575874 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 63 (W63R)
Ref Sequence ENSEMBL: ENSMUSP00000103299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107672] [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029726
Predicted Effect probably damaging
Transcript: ENSMUST00000107672
AA Change: W63R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: W63R

DomainStartEndE-ValueType
Pfam:GatB_N 65 353 8.3e-103 PFAM
Pfam:GatB_Yqey 406 472 6.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107674
AA Change: W63R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: W63R

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: W63R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: W63R

DomainStartEndE-ValueType
Pfam:GatB_N 65 353 8.3e-101 PFAM
GatB_Yqey 406 555 4.13e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148478
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,485 N91S possibly damaging Het
Adora1 T C 1: 134,203,069 Y288C probably damaging Het
Avil A T 10: 127,013,577 T581S probably benign Het
Cacna1h C T 17: 25,432,894 W92* probably null Het
Calr3 A C 8: 72,434,891 probably benign Het
Cdan1 T C 2: 120,730,741 E181G probably damaging Het
Clca4a T C 3: 144,957,318 N590S probably benign Het
Cnga1 T A 5: 72,605,413 I253F probably benign Het
Cngb3 T G 4: 19,283,498 probably benign Het
Cstf3 T A 2: 104,608,931 Y30N possibly damaging Het
Cyp2a12 T A 7: 27,031,206 S199T probably benign Het
Dlg1 A G 16: 31,805,727 I412V probably benign Het
E330017A01Rik A C 16: 58,637,713 I75S probably damaging Het
Fasn C T 11: 120,818,148 V570M probably benign Het
Fhit A G 14: 10,421,534 S85P probably damaging Het
Frmd5 T A 2: 121,553,344 M369L probably benign Het
Gga1 G T 15: 78,888,182 L227F probably damaging Het
Itgb1 A G 8: 128,722,584 N557S possibly damaging Het
Ltf T C 9: 111,025,101 V328A possibly damaging Het
Nefh T C 11: 4,945,289 E300G probably damaging Het
Nrip1 A G 16: 76,294,465 V68A probably benign Het
Olfr24 T C 9: 18,755,369 N89D probably benign Het
Pcdhb13 T G 18: 37,442,764 V65G probably damaging Het
Pcdhb4 A T 18: 37,309,977 Y780F possibly damaging Het
Plcd3 C T 11: 103,074,898 E503K probably benign Het
Rbm6 T A 9: 107,774,719 D903V possibly damaging Het
Rnf133 A G 6: 23,649,135 M265T probably benign Het
Sbf1 T C 15: 89,289,645 T1775A probably damaging Het
Serpina1f T A 12: 103,693,546 D159V probably damaging Het
Skap1 C A 11: 96,702,682 S118R probably damaging Het
Slc17a9 C A 2: 180,739,816 probably null Het
Slc30a5 A G 13: 100,813,887 S231P probably damaging Het
Stac2 A G 11: 98,043,722 F52S probably damaging Het
Them7 T C 2: 105,297,805 S44P probably benign Het
Tnmd A G X: 133,865,413 probably benign Het
Trdmt1 A T 2: 13,523,435 I105N probably damaging Het
Trpc1 C T 9: 95,710,260 G554E probably damaging Het
Vmn1r37 A G 6: 66,731,756 Y85C probably benign Het
Zim1 T C 7: 6,682,059 T131A 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
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
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
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
X0013:Gatb UTSW 3 85601861 missense probably damaging 1.00
Z1177:Gatb UTSW 3 85636973 missense probably damaging 1.00
Posted On2016-08-02