Incidental Mutation 'R7582:Castor1'
ID 586814
Institutional Source Beutler Lab
Gene Symbol Castor1
Ensembl Gene ENSMUSG00000020424
Gene Name cytosolic arginine sensor for mTORC1 subunit 1
Synonyms 2410008K03Rik, Gatsl3
MMRRC Submission 045665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7582 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 4168225-4172409 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4170457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 151 (V151A)
Ref Sequence ENSEMBL: ENSMUSP00000020699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020699] [ENSMUST00000041042] [ENSMUST00000180088]
AlphaFold Q9CWQ8
Predicted Effect probably benign
Transcript: ENSMUST00000020699
AA Change: V151A

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424
AA Change: V151A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,266,565 (GRCm39) V1007A probably damaging Het
Adgrl3 T C 5: 81,841,523 (GRCm39) V800A probably damaging Het
Ankfn1 T A 11: 89,417,445 (GRCm39) M56L probably benign Het
Arfgap3 A C 15: 83,187,302 (GRCm39) V72G possibly damaging Het
B3galnt2 C T 13: 14,165,986 (GRCm39) R294W probably damaging Het
Cadm1 G T 9: 47,708,740 (GRCm39) D157Y probably damaging Het
Ccdc81 A T 7: 89,525,353 (GRCm39) Y474N probably damaging Het
Cdkl4 T A 17: 80,841,264 (GRCm39) K297I probably benign Het
Cep128 G A 12: 91,314,340 (GRCm39) T146M probably damaging Het
Cfap161 T C 7: 83,426,290 (GRCm39) N236S possibly damaging Het
Chil3 A T 3: 106,071,572 (GRCm39) W31R probably damaging Het
Cmtm2b C T 8: 105,049,353 (GRCm39) S86F probably damaging Het
Cntnap5a G A 1: 116,374,362 (GRCm39) G958D probably damaging Het
Col6a5 A G 9: 105,822,625 (GRCm39) L244P unknown Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cul9 A G 17: 46,821,905 (GRCm39) Y1857H probably damaging Het
Dst A G 1: 34,208,964 (GRCm39) Q1154R probably damaging Het
Fgg G A 3: 82,921,445 (GRCm39) G376D probably damaging Het
Fmn2 T C 1: 174,526,356 (GRCm39) S1392P probably damaging Het
Focad T C 4: 88,147,615 (GRCm39) V418A probably benign Het
Foxf1 A T 8: 121,811,430 (GRCm39) H98L possibly damaging Het
Frmd4a C CA 2: 4,599,408 (GRCm39) probably null Het
Fry C A 5: 150,419,847 (GRCm39) T639K Het
Fryl A G 5: 73,179,843 (GRCm39) probably null Het
Gdpd4 A G 7: 97,607,012 (GRCm39) probably null Het
Gpt2 A G 8: 86,246,145 (GRCm39) K368R probably damaging Het
Hc A T 2: 34,881,278 (GRCm39) V1447E possibly damaging Het
Kmt5a A G 5: 124,597,982 (GRCm39) T280A probably benign Het
Lrrc4b G T 7: 44,111,234 (GRCm39) V369L probably benign Het
Ly6g5c A G 17: 35,330,783 (GRCm39) M102V probably benign Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mib2 T C 4: 155,739,267 (GRCm39) N904S probably benign Het
Mug2 G A 6: 122,056,603 (GRCm39) V1183I probably damaging Het
Nckap1l C T 15: 103,390,587 (GRCm39) T786I probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Neu3 A G 7: 99,463,174 (GRCm39) V183A probably benign Het
Nod1 A G 6: 54,921,292 (GRCm39) L342P probably damaging Het
Nop58 T C 1: 59,740,097 (GRCm39) V163A probably damaging Het
Npr3 C T 15: 11,895,768 (GRCm39) G293R probably null Het
Obscn T A 11: 58,952,253 (GRCm39) K3939* probably null Het
Or4d10c G A 19: 12,065,370 (GRCm39) A262V probably benign Het
Or4g16 T A 2: 111,136,793 (GRCm39) M81K probably damaging Het
Or5k16 A T 16: 58,736,410 (GRCm39) M198K possibly damaging Het
Or5p76 A G 7: 108,123,058 (GRCm39) I33T probably benign Het
Or8b12b T C 9: 37,684,117 (GRCm39) L54P probably damaging Het
P2ry6 A G 7: 100,587,784 (GRCm39) Y192H probably damaging Het
Paxbp1 A G 16: 90,819,555 (GRCm39) probably null Het
Pign G A 1: 105,577,092 (GRCm39) T197I probably benign Het
Pirb A T 7: 3,716,817 (GRCm39) probably null Het
Pkdrej C A 15: 85,703,122 (GRCm39) R938L possibly damaging Het
Psg21 A G 7: 18,381,128 (GRCm39) *472R probably null Het
Rabgap1l A T 1: 160,509,654 (GRCm39) S474R probably benign Het
Rrn3 C T 16: 13,628,375 (GRCm39) Q519* probably null Het
Seh1l A T 18: 67,908,188 (GRCm39) K37* probably null Het
Shprh A G 10: 11,040,449 (GRCm39) S641G probably benign Het
Slc4a1 T G 11: 102,243,403 (GRCm39) S743R probably damaging Het
Snx13 C T 12: 35,174,534 (GRCm39) R688* probably null Het
Tlr11 C T 14: 50,599,186 (GRCm39) Q391* probably null Het
Tmbim4 A G 10: 120,053,471 (GRCm39) H90R probably benign Het
Trav8d-1 T C 14: 53,016,326 (GRCm39) S71P possibly damaging Het
Trbv5 G A 6: 41,039,617 (GRCm39) R74Q probably benign Het
Tril A G 6: 53,795,921 (GRCm39) S434P probably benign Het
Uhmk1 A G 1: 170,027,570 (GRCm39) Y376H probably damaging Het
Uty A G Y: 1,170,914 (GRCm39) C317R probably damaging Het
Vmp1 C T 11: 86,476,225 (GRCm39) C377Y probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr41 T C 13: 95,142,275 (GRCm39) S150P probably damaging Het
Zfp617 T A 8: 72,685,864 (GRCm39) Y65N probably benign Het
Zfp800 A C 6: 28,244,089 (GRCm39) V292G probably damaging Het
Other mutations in Castor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Castor1 APN 11 4,171,850 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTTGTCCACATACCAGACAGAC -3'
(R):5'- CAAGGTTATCTTGGACTGGGGC -3'

Sequencing Primer
(F):5'- AGACAGACTTCATCCTGGTGG -3'
(R):5'- ACCCCTGGTGGCAGGTC -3'
Posted On 2019-10-24