Incidental Mutation 'R8549:Gm5460'
ID 659786
Institutional Source Beutler Lab
Gene Symbol Gm5460
Ensembl Gene ENSMUSG00000072624
Gene Name predicted gene 5460
Synonyms
MMRRC Submission 068514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8549 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33738252-33769071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33758892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
Ref Sequence ENSEMBL: ENSMUSP00000154683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100719] [ENSMUST00000227383]
AlphaFold Q3UQ97
Predicted Effect probably benign
Transcript: ENSMUST00000100719
SMART Domains Protein: ENSMUSP00000098285
Gene: ENSMUSG00000072624

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
low complexity region 24 82 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
low complexity region 133 150 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000227383
AA Change: F184L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,681,061 (GRCm39) probably null Het
Aadacl4 G A 4: 144,349,726 (GRCm39) V328I probably benign Het
Adcy7 A T 8: 89,052,818 (GRCm39) H968L probably benign Het
Ahnak G A 19: 8,988,847 (GRCm39) G3377E probably damaging Het
Ank3 A G 10: 69,818,012 (GRCm39) T56A possibly damaging Het
Anpep A G 7: 79,490,644 (GRCm39) S291P probably benign Het
Arap3 G A 18: 38,106,365 (GRCm39) P1493S probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C1rb T C 6: 124,551,498 (GRCm39) Y203H probably benign Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Chrd A G 16: 20,560,027 (GRCm39) E898G probably benign Het
Cobll1 T C 2: 64,928,794 (GRCm39) D881G probably damaging Het
Cyp39a1 T A 17: 44,041,886 (GRCm39) D364E possibly damaging Het
Defb33 G A 8: 21,387,594 (GRCm39) G44R probably damaging Het
Efcab3 A T 11: 104,890,521 (GRCm39) E4201V probably damaging Het
Ehhadh A T 16: 21,585,168 (GRCm39) S238T probably benign Het
Eif5b G A 1: 38,076,288 (GRCm39) R612Q possibly damaging Het
Eps8l1 G T 7: 4,473,853 (GRCm39) R220L probably damaging Het
Frmd8 A G 19: 5,919,565 (GRCm39) Y161H possibly damaging Het
Gad2 T A 2: 22,525,059 (GRCm39) probably null Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Grip2 C A 6: 91,750,769 (GRCm39) probably null Het
Hrh4 T C 18: 13,155,115 (GRCm39) F218S possibly damaging Het
Ippk T C 13: 49,615,177 (GRCm39) V520A probably benign Het
Kif15 T A 9: 122,815,236 (GRCm39) Y189N probably benign Het
Kif9 T G 9: 110,343,487 (GRCm39) probably null Het
L1td1 T C 4: 98,626,280 (GRCm39) F825S probably damaging Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Nalcn T C 14: 123,607,448 (GRCm39) T674A probably benign Het
Nbeal1 G A 1: 60,274,721 (GRCm39) probably null Het
Nip7 C A 8: 107,784,605 (GRCm39) probably null Het
Npc1l1 A G 11: 6,168,675 (GRCm39) F902S probably damaging Het
Or4k48 C T 2: 111,479,512 (GRCm39) probably benign Het
Pcdha6 T G 18: 37,101,594 (GRCm39) I262M possibly damaging Het
Pcdhga1 T A 18: 37,966,386 (GRCm39) *56R probably null Het
Plcb1 A G 2: 135,206,853 (GRCm39) Y959C probably benign Het
Rnase9 T A 14: 51,276,448 (GRCm39) I177L probably benign Het
Rtn3 T C 19: 7,434,624 (GRCm39) N437S probably benign Het
Rufy3 T A 5: 88,795,073 (GRCm39) probably null Het
Snx29 T C 16: 11,532,920 (GRCm39) probably null Het
Szt2 C A 4: 118,229,878 (GRCm39) R2751L unknown Het
Tagap A G 17: 8,152,797 (GRCm39) T661A probably benign Het
Tcp10b T A 17: 13,281,915 (GRCm39) I95K probably benign Het
Topbp1 T C 9: 103,201,577 (GRCm39) F637L probably damaging Het
Yju2b A T 8: 84,985,399 (GRCm39) V290E probably benign Het
Zfp41 C T 15: 75,490,540 (GRCm39) T164M probably benign Het
Zfp707 T A 15: 75,846,547 (GRCm39) I126N probably benign Het
Zfp957 T C 14: 79,451,346 (GRCm39) E151G probably damaging Het
Other mutations in Gm5460
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Gm5460 APN 14 33,765,909 (GRCm39) splice site probably benign
R2483:Gm5460 UTSW 14 33,767,775 (GRCm39) missense possibly damaging 0.83
R4529:Gm5460 UTSW 14 33,767,769 (GRCm39) missense probably damaging 0.96
R5688:Gm5460 UTSW 14 33,767,752 (GRCm39) missense possibly damaging 0.82
R7123:Gm5460 UTSW 14 33,763,982 (GRCm39) missense unknown
R7394:Gm5460 UTSW 14 33,765,879 (GRCm39) missense possibly damaging 0.81
R7420:Gm5460 UTSW 14 33,758,714 (GRCm39) missense probably damaging 0.98
R7756:Gm5460 UTSW 14 33,757,114 (GRCm39) missense probably benign 0.22
R7758:Gm5460 UTSW 14 33,757,114 (GRCm39) missense probably benign 0.22
R8220:Gm5460 UTSW 14 33,767,876 (GRCm39) missense probably damaging 0.96
R8491:Gm5460 UTSW 14 33,761,740 (GRCm39) missense probably damaging 0.97
R8737:Gm5460 UTSW 14 33,739,149 (GRCm39) missense unknown
R9029:Gm5460 UTSW 14 33,739,326 (GRCm39) missense
R9199:Gm5460 UTSW 14 33,758,393 (GRCm39) missense possibly damaging 0.92
R9432:Gm5460 UTSW 14 33,767,769 (GRCm39) missense possibly damaging 0.90
Z1177:Gm5460 UTSW 14 33,767,791 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGTGGCCCATTCTGATGATCTC -3'
(R):5'- TGCCACGTAGACAAGTTGC -3'

Sequencing Primer
(F):5'- TGATCTCCATGAGCTAGTAGACACG -3'
(R):5'- CGTAGACAAGTTGCACAAAAGTATAC -3'
Posted On 2021-01-18