Incidental Mutation 'IGL03123:Castor1'
ID 410067
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 # IGL03123
Quality Score
Status
Chromosome 11
Chromosomal Location 4168225-4172409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4170278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 119 (T119S)
Ref Sequence ENSEMBL: ENSMUSP00000020699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020699] [ENSMUST00000041042] [ENSMUST00000180088]
AlphaFold Q9CWQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000020699
AA Change: T119S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424
AA Change: T119S

DomainStartEndE-ValueType
Pfam:ACT_7 71 138 1.3e-19 PFAM
Pfam:ACT_7 257 321 3.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041042
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
TBC 142 359 6e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180088
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412

DomainStartEndE-ValueType
TBC 108 325 6e-59 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,311,218 (GRCm39) V96A probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
Caprin2 G T 6: 148,796,505 (GRCm39) A36E probably damaging Het
Dnase1l2 T C 17: 24,661,226 (GRCm39) M28V possibly damaging Het
Eci1 T A 17: 24,655,300 (GRCm39) probably null Het
Edil3 T A 13: 89,279,855 (GRCm39) S178T probably damaging Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Exoc3l4 A G 12: 111,388,547 (GRCm39) E12G probably damaging Het
Frmd7 G A X: 49,984,835 (GRCm39) T445I probably benign Het
Golga4 A G 9: 118,365,953 (GRCm39) E344G probably damaging Het
H2-M10.4 A G 17: 36,772,812 (GRCm39) Y57H probably damaging Het
Hnmt T C 2: 23,909,171 (GRCm39) I81V probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Htra3 C T 5: 35,823,477 (GRCm39) V280I probably damaging Het
Impg2 G T 16: 56,087,485 (GRCm39) E992D probably damaging Het
Kctd4 T C 14: 76,200,418 (GRCm39) W130R possibly damaging Het
Kdm3b T A 18: 34,942,544 (GRCm39) probably null Het
Kmt2d G A 15: 98,759,652 (GRCm39) T1202M unknown Het
Lrp11 A T 10: 7,478,689 (GRCm39) D326V probably damaging Het
Lrrcc1 A T 3: 14,601,144 (GRCm39) I59F probably damaging Het
Lyg2 G A 1: 37,954,845 (GRCm39) probably benign Het
Med16 A G 10: 79,732,667 (GRCm39) V699A probably damaging Het
Myo18b G T 5: 113,022,804 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,531,767 (GRCm39) T744A probably damaging Het
Or1e1f T A 11: 73,855,812 (GRCm39) I126N probably damaging Het
Oser1 A T 2: 163,253,309 (GRCm39) probably benign Het
Pcdhgc5 T C 18: 37,952,966 (GRCm39) V80A probably benign Het
Pi4ka C T 16: 17,100,539 (GRCm39) G1857D possibly damaging Het
Pitpnc1 C T 11: 107,228,237 (GRCm39) probably null Het
Pofut2 A G 10: 77,102,844 (GRCm39) E137G probably benign Het
Rgsl1 A T 1: 153,701,687 (GRCm39) W291R probably damaging Het
Rnf113a2 T C 12: 84,465,050 (GRCm39) I314T probably benign Het
Rps2 C T 17: 24,939,263 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,224 (GRCm39) K1148E probably damaging Het
Slc45a2 A G 15: 11,012,741 (GRCm39) D248G probably benign Het
Slit2 G T 5: 48,368,681 (GRCm39) R352L probably damaging Het
Smg1 A G 7: 117,756,404 (GRCm39) probably benign Het
Sycp2 A T 2: 177,994,272 (GRCm39) C1217* probably null Het
Tbcb A G 7: 29,926,261 (GRCm39) probably benign Het
Tinf2 T C 14: 55,918,346 (GRCm39) D128G probably damaging Het
Traf3ip2 A G 10: 39,515,218 (GRCm39) D332G possibly damaging Het
Tram1 A G 1: 13,659,829 (GRCm39) F40L probably benign Het
Trank1 A T 9: 111,196,475 (GRCm39) I1500L probably damaging Het
Wdfy4 G A 14: 32,884,827 (GRCm39) P25L probably benign Het
Wnt5a G T 14: 28,244,882 (GRCm39) Q376H probably damaging Het
Zfp526 A C 7: 24,924,049 (GRCm39) T103P probably benign Het
Other mutations in Castor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Castor1 APN 11 4,171,850 (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 2016-08-02