Incidental Mutation 'R6566:Gm57859'
ID 522691
Institutional Source Beutler Lab
Gene Symbol Gm57859
Ensembl Gene ENSMUSG00000041623
Gene Name predicted gene, 57859
Synonyms D11Wsu47e
MMRRC Submission 044690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6566 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 113575238-113585473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113578824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 73 (P73L)
Ref Sequence ENSEMBL: ENSMUSP00000116817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]
AlphaFold Q6PIX9
Predicted Effect probably damaging
Transcript: ENSMUST00000042227
AA Change: P73L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: P73L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106621
AA Change: P73L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: P73L

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123466
AA Change: P73L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000153732
AA Change: P73L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,321 (GRCm39) I164T probably damaging Het
Adad2 C T 8: 120,340,971 (GRCm39) P164S probably benign Het
Adcy3 T A 12: 4,244,324 (GRCm39) L278H probably damaging Het
Aldh16a1 A C 7: 44,792,651 (GRCm39) D670E probably benign Het
Bcat1 A G 6: 144,961,210 (GRCm39) M131T probably damaging Het
Dcstamp T C 15: 39,617,732 (GRCm39) F47S possibly damaging Het
Dsg1b T C 18: 20,530,499 (GRCm39) F385L probably damaging Het
Exoc8 A C 8: 125,622,783 (GRCm39) L528R probably damaging Het
Fat4 T C 3: 39,011,275 (GRCm39) V2125A possibly damaging Het
Hecw1 T C 13: 14,471,868 (GRCm39) D600G probably damaging Het
Ice2 G A 9: 69,323,511 (GRCm39) V669I probably benign Het
Khdc4 C T 3: 88,618,961 (GRCm39) T555M probably damaging Het
Lsr T A 7: 30,671,508 (GRCm39) Y75F possibly damaging Het
Mrps30 C A 13: 118,523,662 (GRCm39) V37L probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or6c217 T A 10: 129,737,947 (GRCm39) I211L probably benign Het
Pign A G 1: 105,565,906 (GRCm39) probably null Het
Plcd3 A G 11: 102,964,626 (GRCm39) Y582H probably damaging Het
Rad9b A G 5: 122,490,630 (GRCm39) W29R probably damaging Het
Rb1cc1 T A 1: 6,319,316 (GRCm39) F912I probably benign Het
Rgs16 C T 1: 153,619,546 (GRCm39) S184L unknown Het
Runx2 A G 17: 45,125,375 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,794 (GRCm39) I163F probably damaging Het
Serpina9 T C 12: 103,963,296 (GRCm39) E404G possibly damaging Het
Slc4a4 T C 5: 89,297,192 (GRCm39) S511P possibly damaging Het
Speg A T 1: 75,365,107 (GRCm39) E390V probably damaging Het
Syne3 A G 12: 104,912,966 (GRCm39) V614A probably benign Het
Tmc5 T C 7: 118,247,067 (GRCm39) S524P probably damaging Het
Tuba4a G A 1: 75,193,930 (GRCm39) T51I probably damaging Het
Tymp T A 15: 89,257,803 (GRCm39) T421S probably benign Het
Uvssa A G 5: 33,549,520 (GRCm39) R394G possibly damaging Het
Wdr7 T G 18: 63,888,126 (GRCm39) I533S possibly damaging Het
Zbtb5 G A 4: 44,994,508 (GRCm39) T292M probably damaging Het
Zfp944 T G 17: 22,558,726 (GRCm39) K174Q possibly damaging Het
Other mutations in Gm57859
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Gm57859 APN 11 113,583,296 (GRCm39) missense probably benign 0.19
IGL01701:Gm57859 APN 11 113,579,927 (GRCm39) missense probably benign 0.27
R0483:Gm57859 UTSW 11 113,580,021 (GRCm39) missense possibly damaging 0.92
R0601:Gm57859 UTSW 11 113,578,712 (GRCm39) missense probably benign 0.38
R1567:Gm57859 UTSW 11 113,578,728 (GRCm39) missense probably damaging 0.99
R4834:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R4923:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R5194:Gm57859 UTSW 11 113,579,654 (GRCm39) missense possibly damaging 0.83
R5779:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R5815:Gm57859 UTSW 11 113,578,783 (GRCm39) splice site probably null
R6174:Gm57859 UTSW 11 113,579,801 (GRCm39) missense possibly damaging 0.46
R6837:Gm57859 UTSW 11 113,579,439 (GRCm39) missense possibly damaging 0.90
R6974:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R7497:Gm57859 UTSW 11 113,583,223 (GRCm39) missense probably damaging 0.97
R9439:Gm57859 UTSW 11 113,583,229 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGTAAGAAGCCGTTTAAGCG -3'
(R):5'- TCTTAGGAGAGGTGGCATCTGAC -3'

Sequencing Primer
(F):5'- GCCGTTTAAGCGTTTAAAATCCCAC -3'
(R):5'- CCAAGGGGTTGTGACTCTC -3'
Posted On 2018-06-06