Incidental Mutation 'R6475:Gm3409'
ID 517371
Institutional Source Beutler Lab
Gene Symbol Gm3409
Ensembl Gene ENSMUSG00000096664
Gene Name predicted gene 3409
Synonyms
MMRRC Submission 044608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6475 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 146474457-146477237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 146474596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 37 (H37Q)
Ref Sequence ENSEMBL: ENSMUSP00000142652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110597] [ENSMUST00000110599] [ENSMUST00000199142]
AlphaFold A0A0G2JE67
Predicted Effect possibly damaging
Transcript: ENSMUST00000110597
AA Change: H37Q

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106227
Gene: ENSMUSG00000096664
AA Change: H37Q

DomainStartEndE-ValueType
RasGEFN 66 181 1.96e-3 SMART
low complexity region 265 279 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110599
AA Change: H37Q

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106229
Gene: ENSMUSG00000096664
AA Change: H37Q

DomainStartEndE-ValueType
RasGEFN 66 181 1.96e-3 SMART
low complexity region 265 287 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199142
AA Change: H37Q

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142652
Gene: ENSMUSG00000096664
AA Change: H37Q

DomainStartEndE-ValueType
RasGEFN 66 181 9.5e-6 SMART
low complexity region 269 291 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 55,003,610 (GRCm39) V44E probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Ccr4 A G 9: 114,322,047 (GRCm39) V6A probably benign Het
Cd209a A T 8: 3,797,031 (GRCm39) D102E probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Cog4 T A 8: 111,607,526 (GRCm39) I671N possibly damaging Het
Col14a1 T G 15: 55,309,218 (GRCm39) probably benign Het
Cpne6 A G 14: 55,751,110 (GRCm39) D173G probably damaging Het
Daglb G T 5: 143,467,406 (GRCm39) V275L probably benign Het
Defb43 G T 14: 63,249,321 (GRCm39) probably null Het
Dhx30 A G 9: 109,914,120 (GRCm39) V1022A possibly damaging Het
Egfem1 A T 3: 29,711,312 (GRCm39) K297M probably damaging Het
Egfr A G 11: 16,841,259 (GRCm39) I717V probably benign Het
Eif2ak1 T G 5: 143,803,765 (GRCm39) probably null Het
Epb42 T C 2: 120,857,614 (GRCm39) Y307C possibly damaging Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fam185a A G 5: 21,630,281 (GRCm39) D39G probably benign Het
Fbxl4 T A 4: 22,433,661 (GRCm39) D599E probably damaging Het
Fgfr2 T A 7: 129,802,850 (GRCm39) T268S probably benign Het
Gabra1 A T 11: 42,053,382 (GRCm39) M84K probably benign Het
Gba1 A G 3: 89,113,235 (GRCm39) D222G probably benign Het
Gm4559 A G 7: 141,827,887 (GRCm39) C72R unknown Het
Grik4 T C 9: 42,540,304 (GRCm39) N292S probably benign Het
Haao A G 17: 84,139,113 (GRCm39) S274P possibly damaging Het
Hsd17b4 T A 18: 50,305,329 (GRCm39) probably null Het
Igdcc4 A T 9: 65,027,603 (GRCm39) S222C probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itgb7 T A 15: 102,124,701 (GRCm39) D772V probably benign Het
Kif14 T C 1: 136,455,149 (GRCm39) L1607P probably damaging Het
Klf5 A G 14: 99,538,817 (GRCm39) T77A probably benign Het
Klhl29 C T 12: 5,141,030 (GRCm39) V605I probably damaging Het
Map4k1 T C 7: 28,686,447 (GRCm39) V105A probably damaging Het
Mctp2 A T 7: 71,850,092 (GRCm39) probably null Het
Med12l A G 3: 59,164,500 (GRCm39) E1364G probably damaging Het
Mup9 A T 4: 60,375,805 (GRCm39) D30E possibly damaging Het
Naip1 T C 13: 100,545,596 (GRCm39) R1311G probably damaging Het
Or2ag2 A G 7: 106,485,604 (GRCm39) V140A probably benign Het
Or2v1 C T 11: 49,025,760 (GRCm39) T247I probably benign Het
Or4f14 G A 2: 111,743,204 (GRCm39) Q24* probably null Het
Or8g28 T A 9: 39,169,378 (GRCm39) M197L probably benign Het
Pkd1l3 A C 8: 110,349,844 (GRCm39) T230P unknown Het
Pthlh G T 6: 147,158,688 (GRCm39) H91N probably damaging Het
Rapgef5 T A 12: 117,681,942 (GRCm39) V239D probably damaging Het
Rita1 G A 5: 120,749,635 (GRCm39) T26I probably damaging Het
Robo3 T C 9: 37,334,586 (GRCm39) T615A probably damaging Het
Rpp38 T C 2: 3,330,644 (GRCm39) D86G probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Senp2 G T 16: 21,842,550 (GRCm39) V205L probably damaging Het
Septin10 T C 10: 59,028,133 (GRCm39) N63D possibly damaging Het
Sez6 A G 11: 77,864,670 (GRCm39) Het
Spesp1 C T 9: 62,179,715 (GRCm39) V398I probably benign Het
Tmbim7 G A 5: 3,714,319 (GRCm39) G19S probably benign Het
Tnni3k A T 3: 154,646,695 (GRCm39) L431* probably null Het
Trdn T A 10: 33,340,551 (GRCm39) probably null Het
Tubb2a A G 13: 34,259,442 (GRCm39) V116A possibly damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Zfp768 A T 7: 126,943,827 (GRCm39) F103L probably damaging Het
Zfp799 A G 17: 33,039,820 (GRCm39) S149P probably damaging Het
Other mutations in Gm3409
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03403:Gm3409 APN 5 146,476,334 (GRCm39) missense probably benign 0.03
R1928:Gm3409 UTSW 5 146,476,418 (GRCm39) missense probably benign 0.00
R5149:Gm3409 UTSW 5 146,474,571 (GRCm39) missense possibly damaging 0.89
R7299:Gm3409 UTSW 5 146,476,357 (GRCm39) missense probably benign 0.28
R7301:Gm3409 UTSW 5 146,476,357 (GRCm39) missense probably benign 0.28
R7480:Gm3409 UTSW 5 146,476,311 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGTAACCAGAGGCCAGCAG -3'
(R):5'- GGCTCCTGTTCATTTTGAGAAC -3'

Sequencing Primer
(F):5'- AGCAGTAGCCTTACCTGACTTAC -3'
(R):5'- GTTCATTTTGAGAACAGACCTAGG -3'
Posted On 2018-05-21