Incidental Mutation 'IGL00094:Gatb'
ID1783
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 #IGL00094
Quality Score
Status
Chromosome3
Chromosomal Location85574119-85655622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85601920 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 130 (I130L)
Ref Sequence ENSEMBL: ENSMUSP00000119949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107672] [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029726
Predicted Effect possibly damaging
Transcript: ENSMUST00000107672
AA Change: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I130L

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: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I130L

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: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I130L

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik A G 11: 101,990,820 E114G possibly damaging Het
Aacs T A 5: 125,514,190 N547K probably benign Het
Abca13 A G 11: 9,297,443 T2397A probably benign Het
Abcc1 A G 16: 14,470,534 N1341S probably null Het
Adcy9 T A 16: 4,304,582 I535L probably benign Het
Akap6 A G 12: 53,140,980 S1726G possibly damaging Het
Ap3d1 T C 10: 80,741,979 M5V probably benign Het
Ash1l T A 3: 88,981,712 N299K probably benign Het
B3gnt2 C T 11: 22,836,151 V346I probably benign Het
Ceacam14 G A 7: 17,814,137 V51I probably damaging Het
Cfap69 T C 5: 5,584,682 D812G probably damaging Het
Chrna9 T C 5: 65,969,257 V118A probably benign Het
Cpsf7 A G 19: 10,539,787 R418G probably damaging Het
Csnk1g3 T C 18: 53,919,003 Y215H probably damaging Het
Dcaf5 A C 12: 80,339,323 N676K probably benign Het
Dld A T 12: 31,335,577 M255K probably benign Het
Esr2 A T 12: 76,133,896 L417H probably damaging Het
Fsip2 T A 2: 82,990,386 S5488T probably benign Het
Gbp9 T C 5: 105,081,264 K506E probably benign Het
Hkdc1 T C 10: 62,393,789 N703S probably damaging Het
Itgb3 T A 11: 104,633,584 V182E probably damaging Het
Itih4 A T 14: 30,895,469 Y582F probably damaging Het
Lancl2 T A 6: 57,724,537 probably benign Het
Lgals3 A G 14: 47,384,718 K197R probably benign Het
Lipe T C 7: 25,383,552 T767A probably damaging Het
Lrp2 T A 2: 69,507,779 D1219V probably damaging Het
Lrriq3 T A 3: 155,101,061 C116S probably benign Het
Mcm5 T G 8: 75,124,945 probably null Het
Mtpn G T 6: 35,522,776 T31K probably damaging Het
Mycbp2 A T 14: 103,223,050 Y1494N probably damaging Het
Nbeal1 G T 1: 60,235,191 E498* probably null Het
Nos1 T G 5: 117,910,100 S657A probably damaging Het
Nr3c1 A T 18: 39,428,608 probably null Het
Olfr1126 T A 2: 87,457,927 V254E probably damaging Het
Olfr1262 T A 2: 90,003,021 I205N possibly damaging Het
Olfr1502 A T 19: 13,861,786 probably benign Het
Olfr281 T G 15: 98,456,418 V36G possibly damaging Het
Olfr44 T C 9: 39,484,648 I202V probably benign Het
Olfr45 A T 7: 140,691,436 H177L probably damaging Het
Olfr851 T A 9: 19,496,859 I37N probably damaging Het
Osbp2 T G 11: 3,711,848 S735R probably benign Het
Otop3 A T 11: 115,344,453 T304S probably benign Het
Pcdhac2 A T 18: 37,145,075 L369F probably damaging Het
Pick1 T C 15: 79,247,257 probably benign Het
Prlhr A T 19: 60,467,681 V149E probably damaging Het
Prss12 G A 3: 123,486,949 probably benign Het
Rab19 A T 6: 39,388,198 probably benign Het
Ralgapb T C 2: 158,420,856 W5R probably damaging Het
Rfx4 T A 10: 84,840,199 L44Q probably damaging Het
Scube2 T C 7: 109,808,454 T760A probably damaging Het
Shcbp1 A C 8: 4,754,258 Y145* probably null Het
Snx31 T A 15: 36,545,616 probably null Het
Spopl A T 2: 23,537,631 V163E possibly damaging Het
Sqor T C 2: 122,787,543 I107T probably damaging Het
Tcte1 T C 17: 45,534,928 F153L probably damaging Het
Tnfrsf11b T A 15: 54,259,842 H121L probably damaging Het
Tnip1 G T 11: 54,940,817 Y10* probably null Het
Tnxb G T 17: 34,685,629 G1123C probably damaging Het
Wdr62 T C 7: 30,243,523 E515G probably benign Het
Zfand1 A T 3: 10,348,530 D32E probably null Het
Zfp112 A C 7: 24,122,243 T3P probably damaging Het
Other mutations in Gatb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
X0013:Gatb UTSW 3 85601861 missense probably damaging 1.00
Z1177:Gatb UTSW 3 85636973 missense probably damaging 1.00
Posted On2011-07-12