Incidental Mutation 'IGL01096:Castor1'
ID 52278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Castor1
Ensembl Gene ENSMUSG00000020424
Gene Name cytosolic arginine sensor for mTORC1 subunit 1
Synonyms 2410008K03Rik, Gatsl3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01096
Quality Score
Status
Chromosome 11
Chromosomal Location 4168225-4172409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4171850 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWQ8
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: 95,766,221 (GRCm39) M351L possibly damaging Het
Alk T C 17: 72,228,891 (GRCm39) K725E possibly damaging Het
Dspp T A 5: 104,323,233 (GRCm39) H125Q possibly damaging Het
Elmo2 A T 2: 165,138,907 (GRCm39) probably benign Het
Erg A G 16: 95,190,912 (GRCm39) probably benign Het
Fam20c A G 5: 138,794,910 (GRCm39) E513G possibly damaging Het
Gm9839 G T 1: 32,559,917 (GRCm39) T55N possibly damaging Het
Gpd2 A T 2: 57,228,879 (GRCm39) M228L probably damaging Het
Hp A T 8: 110,302,033 (GRCm39) M305K probably benign Het
Ifng T A 10: 118,281,174 (GRCm39) probably benign Het
Igkv9-123 T C 6: 67,931,449 (GRCm39) D39G possibly damaging Het
Melk T A 4: 44,347,262 (GRCm39) F431I probably benign Het
Or10ak12 A G 4: 118,666,653 (GRCm39) V136A probably damaging Het
Or12j5 A T 7: 140,084,097 (GRCm39) S92T probably damaging Het
Or4p19 A G 2: 88,242,135 (GRCm39) M289T probably damaging Het
Or51k1 A C 7: 103,661,321 (GRCm39) L196W probably damaging Het
Or8g27 G A 9: 39,129,412 (GRCm39) G253D probably damaging Het
Pappa T C 4: 65,107,553 (GRCm39) Y655H probably damaging Het
Prss58 A T 6: 40,872,399 (GRCm39) I208N probably damaging Het
Ryr2 T A 13: 11,718,430 (GRCm39) I2720F probably damaging Het
Slc13a1 G T 6: 24,104,076 (GRCm39) T322K probably damaging Het
Spag17 T C 3: 99,970,691 (GRCm39) F1292L probably benign Het
Tbx5 A G 5: 120,021,091 (GRCm39) T366A probably benign Het
Tmeff2 G A 1: 50,969,705 (GRCm39) probably benign Het
Tmem101 C A 11: 102,045,378 (GRCm39) probably null Het
Tpp2 C A 1: 44,000,048 (GRCm39) P389T probably damaging Het
Tyk2 A G 9: 21,020,159 (GRCm39) Y1000H probably damaging Het
Ush2a C A 1: 188,410,574 (GRCm39) N2407K probably damaging Het
Vmn1r94 C T 7: 19,901,561 (GRCm39) V248I probably damaging Het
Vmn2r12 T A 5: 109,234,125 (GRCm39) I696F probably damaging Het
Vmn2r83 A G 10: 79,313,662 (GRCm39) E90G probably damaging Het
Washc5 T C 15: 59,222,060 (GRCm39) probably benign Het
Wee2 A G 6: 40,440,187 (GRCm39) E445G probably benign Het
Zfp518b T C 5: 38,830,131 (GRCm39) T625A probably benign Het
Other mutations in Castor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Castor1 APN 11 4,170,278 (GRCm39) missense probably damaging 1.00
R4739:Castor1 UTSW 11 4,169,004 (GRCm39) missense possibly damaging 0.69
R5425:Castor1 UTSW 11 4,171,689 (GRCm39) missense probably damaging 1.00
R5712:Castor1 UTSW 11 4,168,378 (GRCm39) missense probably damaging 0.98
R6239:Castor1 UTSW 11 4,168,967 (GRCm39) missense possibly damaging 0.93
R6737:Castor1 UTSW 11 4,171,685 (GRCm39) missense probably damaging 1.00
R7197:Castor1 UTSW 11 4,168,949 (GRCm39) missense probably damaging 1.00
R7448:Castor1 UTSW 11 4,171,897 (GRCm39) missense not run
R7582:Castor1 UTSW 11 4,170,457 (GRCm39) missense probably benign 0.33
R8039:Castor1 UTSW 11 4,171,639 (GRCm39) missense probably damaging 0.99
R8447:Castor1 UTSW 11 4,170,165 (GRCm39) missense probably damaging 1.00
R8953:Castor1 UTSW 11 4,171,249 (GRCm39) missense probably benign 0.00
R9069:Castor1 UTSW 11 4,170,141 (GRCm39) missense probably benign 0.00
R9120:Castor1 UTSW 11 4,170,767 (GRCm39) missense possibly damaging 0.78
R9245:Castor1 UTSW 11 4,170,485 (GRCm39) missense probably damaging 0.98
R9328:Castor1 UTSW 11 4,170,423 (GRCm39) missense probably benign 0.12
R9632:Castor1 UTSW 11 4,169,015 (GRCm39) missense probably benign 0.00
R9710:Castor1 UTSW 11 4,169,015 (GRCm39) missense probably benign 0.00
T0975:Castor1 UTSW 11 4,170,445 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21