Incidental Mutation 'R6545:Gm5800'
ID 521140
Institutional Source Beutler Lab
Gene Symbol Gm5800
Ensembl Gene ENSMUSG00000068506
Gene Name predicted gene 5800
Synonyms
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51949101-51954589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51949419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 175 (S175R)
Ref Sequence ENSEMBL: ENSMUSP00000093605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095916]
AlphaFold Q497L3
Predicted Effect possibly damaging
Transcript: ENSMUST00000095916
AA Change: S175R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093605
Gene: ENSMUSG00000068506
AA Change: S175R

DomainStartEndE-ValueType
Pfam:Takusan 10 90 4.7e-28 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Gm5800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Gm5800 APN 14 51,951,269 (GRCm39) missense possibly damaging 0.96
IGL03325:Gm5800 APN 14 51,951,983 (GRCm39) missense probably benign
R0037:Gm5800 UTSW 14 51,953,605 (GRCm39) splice site probably benign
R0597:Gm5800 UTSW 14 51,953,461 (GRCm39) missense probably benign
R1577:Gm5800 UTSW 14 51,952,016 (GRCm39) missense probably benign 0.05
R1834:Gm5800 UTSW 14 51,953,549 (GRCm39) missense possibly damaging 0.85
R1934:Gm5800 UTSW 14 51,949,396 (GRCm39) missense possibly damaging 0.96
R2169:Gm5800 UTSW 14 51,951,135 (GRCm39) missense possibly damaging 0.53
R2180:Gm5800 UTSW 14 51,953,451 (GRCm39) nonsense probably null
R4861:Gm5800 UTSW 14 51,953,504 (GRCm39) missense probably damaging 0.98
R4861:Gm5800 UTSW 14 51,953,504 (GRCm39) missense probably damaging 0.98
R5267:Gm5800 UTSW 14 51,951,294 (GRCm39) splice site probably null
R6634:Gm5800 UTSW 14 51,953,595 (GRCm39) missense possibly damaging 0.73
R6925:Gm5800 UTSW 14 51,951,157 (GRCm39) missense possibly damaging 0.76
R7632:Gm5800 UTSW 14 51,953,905 (GRCm39) splice site probably null
R9067:Gm5800 UTSW 14 51,951,995 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGAGAGACATTCCCCTTATATTCACAC -3'
(R):5'- AGCAGCCTTTTCATAGAGGAG -3'

Sequencing Primer
(F):5'- ATTCCCCTTATATTCACACAAAGC -3'
(R):5'- CGTTTGCTTGGTCATTAAACATC -3'
Posted On 2018-06-06