Incidental Mutation 'R4417:Gpm6a'
ID326883
Institutional Source Beutler Lab
Gene Symbol Gpm6a
Ensembl Gene ENSMUSG00000031517
Gene Nameglycoprotein m6a
SynonymsM6A, Gpm6
MMRRC Submission 041138-MU
Accession Numbers

Genbank: NM_153581; MGI: 107671

Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #R4417 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location54954843-55060871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55050188 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 157 (N157K)
Ref Sequence ENSEMBL: ENSMUSP00000033915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033915]
Predicted Effect probably damaging
Transcript: ENSMUST00000033915
AA Change: N157K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
AA Change: N157K

DomainStartEndE-ValueType
PLP 157 212 1.28e-31 SMART
low complexity region 213 227 N/A INTRINSIC
Meta Mutation Damage Score 0.7826 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,505,574 T183A possibly damaging Het
A630001G21Rik T A 1: 85,726,463 Y51F probably damaging Het
Abi3bp C A 16: 56,654,035 T631K probably damaging Het
BC004004 G A 17: 29,282,275 probably benign Het
Cabp1 G A 5: 115,186,037 S7L possibly damaging Het
Cdc23 ACC AC 18: 34,637,318 probably null Het
Clhc1 T C 11: 29,571,826 I453T possibly damaging Het
Col28a1 T A 6: 8,175,666 I61F possibly damaging Het
Col2a1 T C 15: 97,998,585 E61G unknown Het
Col6a4 C T 9: 106,072,016 V807I probably damaging Het
Crhbp T C 13: 95,443,877 S65G probably benign Het
Dnah9 T A 11: 65,981,214 Q2730L possibly damaging Het
Epx T A 11: 87,869,430 R453* probably null Het
Fez1 T C 9: 36,870,472 probably benign Het
G530012D18Rik G C 1: 85,577,202 probably benign Het
Glp2r T C 11: 67,664,516 probably benign Het
Gm1141 G A X: 71,939,619 C399Y possibly damaging Het
Kcnj2 T C 11: 111,072,189 S136P probably damaging Het
Lad1 A G 1: 135,828,746 D364G probably benign Het
Lcp2 G T 11: 34,050,917 E33D probably benign Het
Lrrc32 G T 7: 98,498,937 R308L probably benign Het
Matr3 C A 18: 35,572,118 A32D probably damaging Het
Mfsd12 A G 10: 81,364,703 probably benign Het
Mtmr11 T C 3: 96,167,891 probably benign Het
Notch2 A G 3: 98,131,270 D1243G possibly damaging Het
Odf2 T A 2: 29,915,321 probably benign Het
Oit3 T C 10: 59,428,103 Y403C probably damaging Het
Olfr1233 T C 2: 89,339,987 E105G probably benign Het
Pitpnm2 G T 5: 124,123,569 R977S probably damaging Het
Prdm13 T C 4: 21,678,756 E578G probably benign Het
Pum3 A G 19: 27,422,716 I183T probably damaging Het
Rdh14 G A 12: 10,391,231 probably null Het
Slc35b2 G A 17: 45,566,429 V161M probably benign Het
Slit1 A G 19: 41,614,469 C968R probably damaging Het
Spag9 A T 11: 94,060,346 probably benign Het
Stox1 T C 10: 62,659,569 N975S probably benign Het
Stradb T C 1: 58,994,372 V398A probably benign Het
Tlr4 A T 4: 66,839,303 N111I probably damaging Het
Tnip2 G A 5: 34,503,581 R176* probably null Het
Tomm7 A G 5: 23,843,979 I32T probably benign Het
Trank1 T C 9: 111,365,968 I1020T probably benign Het
Ugt1a10 T G 1: 88,055,995 S172A probably benign Het
Vmn2r115 T A 17: 23,345,880 M247K probably benign Het
Zfp341 T C 2: 154,628,987 L308P possibly damaging Het
Zmym6 T C 4: 127,092,988 S154P probably damaging Het
Other mutations in Gpm6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01957:Gpm6a APN 8 55050177 missense probably benign
IGL02591:Gpm6a APN 8 55058919 missense probably damaging 1.00
IGL03257:Gpm6a APN 8 55037472 missense probably damaging 1.00
F2404:Gpm6a UTSW 8 55058882 missense probably damaging 1.00
R0533:Gpm6a UTSW 8 55055374 critical splice acceptor site probably null
R0827:Gpm6a UTSW 8 55058883 missense probably damaging 1.00
R1193:Gpm6a UTSW 8 55047233 critical splice acceptor site probably null
R1468:Gpm6a UTSW 8 55037350 missense probably damaging 0.98
R1468:Gpm6a UTSW 8 55037350 missense probably damaging 0.98
R1793:Gpm6a UTSW 8 55054832 missense probably benign 0.13
R1879:Gpm6a UTSW 8 55037330 missense probably damaging 1.00
R2157:Gpm6a UTSW 8 55058798 missense probably damaging 0.99
R4306:Gpm6a UTSW 8 55047393 critical splice donor site probably null
R4307:Gpm6a UTSW 8 55047393 critical splice donor site probably null
R6058:Gpm6a UTSW 8 55058798 missense probably damaging 0.99
R6112:Gpm6a UTSW 8 55054810 missense probably benign
R6254:Gpm6a UTSW 8 55047396 splice site probably null
R7065:Gpm6a UTSW 8 55037458 missense probably benign 0.13
R7076:Gpm6a UTSW 8 55037451 missense probably damaging 1.00
R7912:Gpm6a UTSW 8 55055434 missense possibly damaging 0.62
R7955:Gpm6a UTSW 8 55058805 missense probably damaging 1.00
R8758:Gpm6a UTSW 8 55058798 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACAGTTCTAGAAGCAGTGTGTG -3'
(R):5'- AGGAAACCTGTTTTGACCTGG -3'

Sequencing Primer
(F):5'- GTGTGTTTGTTTTAAAGATCCAGAC -3'
(R):5'- AACCTGTTTTGACCTGGTATTTTCAG -3'
Posted On2015-07-07