Incidental Mutation 'R4158:Gm20939'
ID 368312
Institutional Source Beutler Lab
Gene Symbol Gm20939
Ensembl Gene ENSMUSG00000095193
Gene Name predicted gene, 20939
Synonyms
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4158 (G1)
Quality Score 39
Status Validated
Chromosome 17
Chromosomal Location 95172317-95185749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95184162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 270 (Y270F)
Ref Sequence ENSEMBL: ENSMUSP00000103642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108007]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000108007
AA Change: Y270F

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103642
Gene: ENSMUSG00000095193
AA Change: Y270F

DomainStartEndE-ValueType
KRAB 3 65 7.59e-15 SMART
ZnF_C2H2 130 152 5.21e-4 SMART
ZnF_C2H2 158 180 1.18e-2 SMART
ZnF_C2H2 186 208 2.12e-4 SMART
ZnF_C2H2 214 236 2.57e-3 SMART
ZnF_C2H2 242 264 1.3e-4 SMART
ZnF_C2H2 270 292 2.99e-4 SMART
ZnF_C2H2 298 320 7.9e-4 SMART
ZnF_C2H2 326 348 1.6e-4 SMART
ZnF_C2H2 354 376 4.24e-4 SMART
ZnF_C2H2 382 404 2.79e-4 SMART
ZnF_C2H2 410 432 5.14e-3 SMART
ZnF_C2H2 438 460 1.22e-4 SMART
ZnF_C2H2 466 488 4.17e-3 SMART
ZnF_C2H2 494 516 1.6e-4 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign Het
Other mutations in Gm20939
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Gm20939 APN 17 95,181,721 (GRCm39) splice site probably benign
R0015:Gm20939 UTSW 17 95,184,196 (GRCm39) missense probably benign 0.00
R1563:Gm20939 UTSW 17 95,184,522 (GRCm39) missense probably damaging 1.00
R1714:Gm20939 UTSW 17 95,183,234 (GRCm39) missense probably damaging 1.00
R2029:Gm20939 UTSW 17 95,183,252 (GRCm39) splice site probably benign
R2922:Gm20939 UTSW 17 95,184,721 (GRCm39) missense probably damaging 1.00
R2923:Gm20939 UTSW 17 95,184,721 (GRCm39) missense probably damaging 1.00
R3158:Gm20939 UTSW 17 95,184,721 (GRCm39) missense probably damaging 1.00
R3810:Gm20939 UTSW 17 95,184,138 (GRCm39) missense possibly damaging 0.46
R4304:Gm20939 UTSW 17 95,184,709 (GRCm39) missense probably benign
R4307:Gm20939 UTSW 17 95,184,162 (GRCm39) missense possibly damaging 0.72
R5080:Gm20939 UTSW 17 95,184,419 (GRCm39) missense probably damaging 1.00
R5271:Gm20939 UTSW 17 95,184,583 (GRCm39) nonsense probably null
R5661:Gm20939 UTSW 17 95,183,207 (GRCm39) missense probably damaging 1.00
R5771:Gm20939 UTSW 17 95,181,767 (GRCm39) missense possibly damaging 0.93
R6800:Gm20939 UTSW 17 95,184,657 (GRCm39) missense possibly damaging 0.75
R8393:Gm20939 UTSW 17 95,183,207 (GRCm39) missense probably damaging 1.00
R8791:Gm20939 UTSW 17 95,184,648 (GRCm39) missense probably damaging 1.00
R9285:Gm20939 UTSW 17 95,184,188 (GRCm39) missense probably damaging 1.00
R9327:Gm20939 UTSW 17 95,184,424 (GRCm39) missense probably benign 0.12
R9348:Gm20939 UTSW 17 95,182,977 (GRCm39) missense probably damaging 1.00
R9599:Gm20939 UTSW 17 95,184,666 (GRCm39) missense probably damaging 1.00
R9686:Gm20939 UTSW 17 95,184,888 (GRCm39) missense probably damaging 1.00
Z1088:Gm20939 UTSW 17 95,184,861 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATCCTTTGCCTCTCATGGT -3'
(R):5'- TGGAAAGGCTTTACCACATTGAT -3'

Sequencing Primer
(F):5'- TCTCATGGTCAACTTCAAGCACATG -3'
(R):5'- TGACTGTGTCGTCCAAAGAC -3'
Posted On 2016-01-25