Incidental Mutation 'IGL01096:Gatsl3'
ID52278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gatsl3
Ensembl Gene ENSMUSG00000020424
Gene NameGATS protein-like 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01096
Quality Score
Status
Chromosome11
Chromosomal Location4218225-4222409 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 4221850 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 309 (E309A)
Ref Sequence ENSEMBL: ENSMUSP00000020699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020699]
Predicted Effect probably damaging
Transcript: ENSMUST00000020699
AA Change: E309A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424
AA Change: E309A

DomainStartEndE-ValueType
Pfam:ACT_7 71 138 1.3e-19 PFAM
Pfam:ACT_7 257 321 3.1e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,039,593 M351L possibly damaging Het
Alk T C 17: 71,921,896 K725E possibly damaging Het
Dspp T A 5: 104,175,367 H125Q possibly damaging Het
Elmo2 A T 2: 165,296,987 probably benign Het
Erg A G 16: 95,390,053 probably benign Het
Fam20c A G 5: 138,809,155 E513G possibly damaging Het
Gm9839 G T 1: 32,520,836 T55N possibly damaging Het
Gpd2 A T 2: 57,338,867 M228L probably damaging Het
Hp A T 8: 109,575,401 M305K probably benign Het
Ifng T A 10: 118,445,269 probably benign Het
Igkv9-123 T C 6: 67,954,465 D39G possibly damaging Het
Melk T A 4: 44,347,262 F431I probably benign Het
Olfr1180 A G 2: 88,411,791 M289T probably damaging Het
Olfr1335 A G 4: 118,809,456 V136A probably damaging Het
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Olfr944 G A 9: 39,218,116 G253D probably damaging Het
Pappa T C 4: 65,189,316 Y655H probably damaging Het
Prss58 A T 6: 40,895,465 I208N probably damaging Het
Ryr2 T A 13: 11,703,544 I2720F probably damaging Het
Slc13a1 G T 6: 24,104,077 T322K probably damaging Het
Spag17 T C 3: 100,063,375 F1292L probably benign Het
Tbx5 A G 5: 119,883,026 T366A probably benign Het
Tmeff2 G A 1: 50,930,546 probably benign Het
Tmem101 C A 11: 102,154,552 probably null Het
Tpp2 C A 1: 43,960,888 P389T probably damaging Het
Tyk2 A G 9: 21,108,863 Y1000H probably damaging Het
Ush2a C A 1: 188,678,377 N2407K probably damaging Het
Vmn1r94 C T 7: 20,167,636 V248I probably damaging Het
Vmn2r12 T A 5: 109,086,259 I696F probably damaging Het
Vmn2r83 A G 10: 79,477,828 E90G probably damaging Het
Washc5 T C 15: 59,350,211 probably benign Het
Wee2 A G 6: 40,463,253 E445G probably benign Het
Zfp518b T C 5: 38,672,788 T625A probably benign Het
Other mutations in Gatsl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Gatsl3 APN 11 4220278 missense probably damaging 1.00
R4739:Gatsl3 UTSW 11 4219004 missense possibly damaging 0.69
R5425:Gatsl3 UTSW 11 4221689 missense probably damaging 1.00
R5712:Gatsl3 UTSW 11 4218378 missense probably damaging 0.98
R6239:Gatsl3 UTSW 11 4218967 missense possibly damaging 0.93
R6737:Gatsl3 UTSW 11 4221685 missense probably damaging 1.00
R7197:Gatsl3 UTSW 11 4218949 missense probably damaging 1.00
R7448:Gatsl3 UTSW 11 4221897 missense not run
R7582:Gatsl3 UTSW 11 4220457 missense probably benign 0.33
R8039:Gatsl3 UTSW 11 4221639 missense probably damaging 0.99
R8447:Gatsl3 UTSW 11 4220165 missense probably damaging 1.00
T0975:Gatsl3 UTSW 11 4220445 missense probably benign 0.00
Posted On2013-06-21