Incidental Mutation 'R4529:Gm5460'
ID333047
Institutional Source Beutler Lab
Gene Symbol Gm5460
Ensembl Gene ENSMUSG00000072624
Gene Namepredicted gene 5460
Synonyms
MMRRC Submission 041592-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R4529 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location34016758-34048193 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 34045812 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 459 (D459A)
Ref Sequence ENSEMBL: ENSMUSP00000154683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100719] [ENSMUST00000227383]
Predicted Effect probably damaging
Transcript: ENSMUST00000100719
AA Change: D184A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098285
Gene: ENSMUSG00000072624
AA Change: D184A

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 probably damaging
Transcript: ENSMUST00000227383
AA Change: D459A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227522
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,420,519 Y483C possibly damaging Het
Akap9 T A 5: 4,043,948 F2157I probably damaging Het
Aldh1a3 T C 7: 66,401,994 N404D probably benign Het
Ankrd2 A T 19: 42,043,801 I231F probably benign Het
Apba1 A G 19: 23,936,535 N641D probably damaging Het
C1qbp T C 11: 70,978,724 T178A probably benign Het
Chtf18 T C 17: 25,720,618 Y64C probably damaging Het
Cyp1a1 A G 9: 57,701,679 H281R probably benign Het
Ehmt2 A G 17: 34,913,731 I1235V probably damaging Het
Fam122c G A X: 53,293,499 R94H possibly damaging Het
Fcamr A G 1: 130,804,576 H44R probably damaging Het
Gm12185 T C 11: 48,907,920 Y582C probably damaging Het
Gm12185 T C 11: 48,908,094 N524S possibly damaging Het
H2-Q6 C T 17: 35,425,844 T203I probably null Het
Inmt T C 6: 55,171,027 M206V probably benign Het
Khdc3 T C 9: 73,104,019 S360P possibly damaging Het
Lin54 G A 5: 100,446,560 T582I possibly damaging Het
Ltbp1 T G 17: 75,151,360 V312G probably benign Het
Nlrp9a T C 7: 26,571,407 L899P probably damaging Het
Olfr786 T C 10: 129,437,418 V202A probably benign Het
Orc4 G A 2: 48,937,489 P31S probably benign Het
Pappa A G 4: 65,231,182 I920V probably benign Het
Parp1 T A 1: 180,591,312 V679E probably damaging Het
Pla2g4f C T 2: 120,300,619 R785Q probably damaging Het
Plbd1 T A 6: 136,651,825 I82F probably benign Het
Plekhm3 A G 1: 64,937,825 V162A probably benign Het
Plin4 A G 17: 56,104,274 L919P probably damaging Het
Plxna4 C T 6: 32,496,896 probably null Het
Pou3f3 C A 1: 42,698,554 T470K probably benign Het
Prss38 T C 11: 59,373,499 Y214C probably damaging Het
Retreg1 T A 15: 25,968,514 Y109N probably damaging Het
Slco1c1 A G 6: 141,555,181 Y413C probably damaging Het
Stk32a T C 18: 43,242,979 C38R possibly damaging Het
Themis T C 10: 28,782,335 F453L possibly damaging Het
Tmem38a C T 8: 72,572,161 P20S possibly damaging Het
Tubgcp3 G T 8: 12,663,932 L62I probably damaging Het
Ubqlnl C T 7: 104,149,718 V191M probably benign Het
Xpo7 G A 14: 70,668,748 T986M probably damaging Het
Zfp51 C T 17: 21,464,736 L538F probably damaging Het
Zfy1 A G Y: 726,511 L418S possibly damaging Het
Other mutations in Gm5460
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Gm5460 APN 14 34043952 splice site probably benign
R2483:Gm5460 UTSW 14 34045818 missense possibly damaging 0.83
R5688:Gm5460 UTSW 14 34045795 missense possibly damaging 0.82
R7123:Gm5460 UTSW 14 34042025 missense unknown
R7394:Gm5460 UTSW 14 34043922 missense possibly damaging 0.81
R7420:Gm5460 UTSW 14 34036757 missense probably damaging 0.98
R7756:Gm5460 UTSW 14 34035157 missense probably benign 0.22
R7758:Gm5460 UTSW 14 34035157 missense probably benign 0.22
R8220:Gm5460 UTSW 14 34045919 missense probably damaging 0.96
Z1177:Gm5460 UTSW 14 34045834 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GGGGAAGAGAAGACCCTTCATC -3'
(R):5'- TGGGTCCAAATTAGCAGCAAAG -3'

Sequencing Primer
(F):5'- TTCATCCAGGACCACCCTATG -3'
(R):5'- GAAAACCTCTCAATATTGCCTCTGTG -3'
Posted On2015-08-18