Incidental Mutation 'R5578:Gm20730'
ID 457967
Institutional Source Beutler Lab
Gene Symbol Gm20730
Ensembl Gene ENSMUSG00000076500
Gene Name predicted gene, 20730
Synonyms
MMRRC Submission 043133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5578 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 43058452-43059031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43058474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 113 (M113L)
Ref Sequence ENSEMBL: ENSMUSP00000100102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103301]
AlphaFold A0A075B5J6
Predicted Effect probably benign
Transcript: ENSMUST00000103301
AA Change: M113L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100102
Gene: ENSMUSG00000076500
AA Change: M113L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 37 114 2.93e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204422
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,926,932 (GRCm39) S521P probably benign Het
Aqp11 A G 7: 97,386,665 (GRCm39) F177S probably damaging Het
Arhgap40 G T 2: 158,373,126 (GRCm39) G128V probably damaging Het
Aspm A T 1: 139,398,455 (GRCm39) K1011I probably damaging Het
Cachd1 A G 4: 100,722,203 (GRCm39) T89A probably benign Het
Cep89 ACTCCTCCTCCTCCTCCTCCTCCTC ACTCCTCCTCCTCCTCCTCCTC 7: 35,109,067 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,758,806 (GRCm39) C81* probably null Het
Chd7 A G 4: 8,847,149 (GRCm39) T1631A probably benign Het
Clca4b T A 3: 144,638,196 (GRCm39) D22V probably benign Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp39a1 T A 17: 43,991,031 (GRCm39) N113K possibly damaging Het
Dnah11 A T 12: 117,982,537 (GRCm39) V2544D probably damaging Het
Dnai3 A T 3: 145,802,983 (GRCm39) Y69* probably null Het
Esr1 A C 10: 4,919,164 (GRCm39) Q418P probably damaging Het
Fam89a T A 8: 125,467,968 (GRCm39) K115* probably null Het
Fstl4 T A 11: 53,056,608 (GRCm39) V455D probably damaging Het
H2ac21 T C 3: 96,127,554 (GRCm39) V108A probably damaging Het
Hk3 C T 13: 55,159,994 (GRCm39) V327M probably damaging Het
Itm2c T A 1: 85,830,774 (GRCm39) V57E possibly damaging Het
Lrba T C 3: 86,664,814 (GRCm39) Y565H probably benign Het
Mab21l1 C T 3: 55,691,435 (GRCm39) Q341* probably null Het
Mdm2 C T 10: 117,538,192 (GRCm39) E69K possibly damaging Het
Mdn1 A T 4: 32,728,167 (GRCm39) I2709F probably benign Het
Mpp7 T C 18: 7,355,101 (GRCm39) N442D probably benign Het
Ncoa3 A G 2: 165,896,248 (GRCm39) I384V probably benign Het
Pm20d1 A G 1: 131,743,760 (GRCm39) N475S probably benign Het
Rhpn2 A G 7: 35,070,135 (GRCm39) D131G probably damaging Het
S1pr5 T A 9: 21,155,847 (GRCm39) Y193F probably damaging Het
Sdk1 A T 5: 141,598,880 (GRCm39) K182* probably null Het
Slx4 T A 16: 3,804,726 (GRCm39) E696V probably damaging Het
Smyd4 C T 11: 75,295,602 (GRCm39) P753S probably benign Het
Stambp T G 6: 83,538,782 (GRCm39) D206A probably benign Het
Sult5a1 G T 8: 123,869,860 (GRCm39) Y262* probably null Het
Taar1 A T 10: 23,796,718 (GRCm39) I139F possibly damaging Het
Tchh A T 3: 93,351,618 (GRCm39) R353* probably null Het
Thnsl2 C T 6: 71,115,749 (GRCm39) V153I probably benign Het
Trmt5 C T 12: 73,331,837 (GRCm39) probably null Het
Trpa1 T A 1: 14,957,232 (GRCm39) Y728F probably damaging Het
Usp19 T C 9: 108,370,639 (GRCm39) V126A probably benign Het
Vcan A G 13: 89,839,622 (GRCm39) V1974A probably benign Het
Vmn2r120 T A 17: 57,829,514 (GRCm39) H461L probably benign Het
Zfp445 T C 9: 122,682,402 (GRCm39) Y513C probably benign Het
Zfp84 A C 7: 29,474,856 (GRCm39) M43L possibly damaging Het
Other mutations in Gm20730
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0323:Gm20730 UTSW 6 43,058,449 (GRCm39) splice site probably null
R3821:Gm20730 UTSW 6 43,058,656 (GRCm39) missense probably benign
R3822:Gm20730 UTSW 6 43,058,656 (GRCm39) missense probably benign
R5493:Gm20730 UTSW 6 43,058,746 (GRCm39) missense possibly damaging 0.68
R5796:Gm20730 UTSW 6 43,058,464 (GRCm39) missense probably damaging 0.99
R6556:Gm20730 UTSW 6 43,058,476 (GRCm39) missense probably damaging 1.00
R6812:Gm20730 UTSW 6 43,058,722 (GRCm39) missense probably benign 0.03
R6836:Gm20730 UTSW 6 43,058,767 (GRCm39) splice site probably null
R7615:Gm20730 UTSW 6 43,058,708 (GRCm39) missense probably null 0.99
R7809:Gm20730 UTSW 6 43,058,989 (GRCm39) missense probably benign 0.00
R8951:Gm20730 UTSW 6 43,058,638 (GRCm39) missense possibly damaging 0.78
Predicted Primers
Posted On 2017-02-16