Incidental Mutation 'R5087:Gm27013'
ID387507
Institutional Source Beutler Lab
Gene Symbol Gm27013
Ensembl Gene ENSMUSG00000098025
Gene Namepredicted gene, 27013
Synonyms
MMRRC Submission 042676-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R5087 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location130519764-130546306 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130677670 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 276 (N276K)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably damaging
Transcript: ENSMUST00000182643
AA Change: N276K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138716
Gene: ENSMUSG00000098137
AA Change: N276K

DomainStartEndE-ValueType
KRAB 8 68 3.39e-35 SMART
ZnF_C2H2 453 503 1.83e2 SMART
ZnF_C2H2 509 531 6.99e-5 SMART
ZnF_C2H2 537 559 1.4e-4 SMART
ZnF_C2H2 565 587 1.6e-4 SMART
ZnF_C2H2 593 615 1.08e-5 SMART
ZnF_C2H2 621 643 1.2e-3 SMART
ZnF_C2H2 649 671 1.5e-4 SMART
ZnF_C2H2 677 699 1.58e-3 SMART
ZnF_C2H2 705 727 2.61e-4 SMART
ZnF_C2H2 733 755 4.79e-3 SMART
ZnF_C2H2 761 783 4.61e-5 SMART
ZnF_C2H2 789 811 1.13e-4 SMART
ZnF_C2H2 817 839 3.16e-3 SMART
ZnF_C2H2 845 867 1.28e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205067
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C T 9: 103,266,221 V361M probably damaging Het
Adhfe1 A G 1: 9,561,626 probably benign Het
Anln T C 9: 22,375,044 T322A possibly damaging Het
Best3 A T 10: 117,009,002 Y354F probably benign Het
Cd44 C T 2: 102,831,354 V509I possibly damaging Het
Cdk5rap1 T C 2: 154,342,395 N529S probably damaging Het
Cnst A G 1: 179,622,813 D614G possibly damaging Het
Cpq T C 15: 33,212,862 I9T probably benign Het
Cyp2j6 T C 4: 96,531,699 H265R probably damaging Het
Dctn1 T A 6: 83,191,639 M458K probably damaging Het
Disc1 A C 8: 125,132,160 I454L probably benign Het
Dnaja4 A G 9: 54,699,739 E4G probably damaging Het
Dnase1l1 C T X: 74,277,038 probably null Het
Eipr1 C A 12: 28,828,856 N136K probably benign Het
Fut11 A G 14: 20,696,161 N357S probably damaging Het
Gbp2b C T 3: 142,598,254 P37S probably damaging Het
Ghr T G 15: 3,320,140 K519Q probably damaging Het
Gipr C A 7: 19,159,764 C328F probably damaging Het
Gm8909 C A 17: 36,165,416 G347* probably null Het
Got2 C A 8: 95,872,323 K150N probably benign Het
Gucy2c A G 6: 136,767,035 S189P possibly damaging Het
Hells T C 19: 38,943,745 V153A probably benign Het
Ighd G A 12: 113,414,427 probably benign Het
Itga4 A C 2: 79,315,629 D725A possibly damaging Het
Itgbl1 T A 14: 123,966,739 L414Q possibly damaging Het
Kat2b-ps A G 5: 93,391,726 noncoding transcript Het
Lrrc1 A T 9: 77,457,458 S192T probably benign Het
Mc2r A T 18: 68,408,203 N6K probably benign Het
Moxd2 A C 6: 40,879,336 L534W probably damaging Het
Myh4 A T 11: 67,255,409 D1431V probably damaging Het
Naa15 T A 3: 51,457,285 probably null Het
Naa16 G A 14: 79,377,415 T215I possibly damaging Het
Ntng1 A T 3: 110,135,329 Y60* probably null Het
Olfr117 A T 17: 37,659,721 V204E probably damaging Het
Olfr389 T C 11: 73,777,258 Y23C possibly damaging Het
Pccb T C 9: 100,985,243 probably benign Het
Pcnx C A 12: 81,994,939 P2115Q probably damaging Het
Pfkfb3 G A 2: 11,484,014 T313I probably damaging Het
Pld1 A G 3: 28,124,582 N875S probably damaging Het
Ptpn20 A T 14: 33,614,441 D79V possibly damaging Het
Rabgap1l C A 1: 160,722,239 V266L probably damaging Het
Reep6 A G 10: 80,335,175 D295G probably damaging Het
Sass6 T C 3: 116,610,298 L195P probably damaging Het
Slc25a27 A G 17: 43,666,930 S25P probably damaging Het
Smok2b T A 17: 13,235,124 M57K probably benign Het
Sp110 C G 1: 85,589,118 E219D probably damaging Het
Sspo T C 6: 48,488,471 V71A possibly damaging Het
Stab1 G A 14: 31,159,304 L590F probably damaging Het
Stard9 T A 2: 120,697,019 Y1252* probably null Het
Syde2 T A 3: 146,007,126 D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 146,001,408 probably null Het
Tmc5 G A 7: 118,645,386 A496T possibly damaging Het
Ttn A G 2: 76,736,360 V28063A probably damaging Het
Usp25 A C 16: 77,077,119 I528L probably benign Het
Vmn1r58 C T 7: 5,410,667 S188N probably benign Het
Wfikkn2 A T 11: 94,238,347 C323S probably damaging Het
Zfy1 A C Y: 732,964 S290A unknown Het
Other mutations in Gm27013
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4175:Gm27013 UTSW 6 130677147 missense probably benign 0.00
R4229:Gm27013 UTSW 6 130677345 missense possibly damaging 0.89
R4408:Gm27013 UTSW 6 130677765 missense possibly damaging 0.90
R4585:Gm27013 UTSW 6 130521040 unclassified noncoding transcript
R4586:Gm27013 UTSW 6 130521040 unclassified noncoding transcript
R4823:Gm27013 UTSW 6 130522223 exon noncoding transcript
R4840:Gm27013 UTSW 6 130678116 missense probably benign 0.00
R4842:Gm27013 UTSW 6 130520737 unclassified noncoding transcript
R4943:Gm27013 UTSW 6 130676200 nonsense probably null
R4998:Gm27013 UTSW 6 130676538 missense probably damaging 0.98
R5271:Gm27013 UTSW 6 130676915 missense probably damaging 1.00
R5507:Gm27013 UTSW 6 130675979 missense probably damaging 1.00
R5767:Gm27013 UTSW 6 130675958 missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGTGGTATGCAGTTGTGAAGAAGAC -3'
(R):5'- CAGTGCTTCAGTGCTCTATGAAC -3'

Sequencing Primer
(F):5'- CTTATCTGATTTTCCCTTGGATGAG -3'
(R):5'- GCTTCAGTGCTCTATGAACAAATGAG -3'
Posted On2016-06-06