Incidental Mutation 'R2971:Gm4779'
ID 477688
Institutional Source Beutler Lab
Gene Symbol Gm4779
Ensembl Gene ENSMUSG00000045010
Gene Name predicted gene 4779
Synonyms
MMRRC Submission 040525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2971 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 100833938-100838074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100836568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 116 (P116L)
Ref Sequence ENSEMBL: ENSMUSP00000148054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056225] [ENSMUST00000124577] [ENSMUST00000147742] [ENSMUST00000151231] [ENSMUST00000163399]
AlphaFold A0A1B0GR91
Predicted Effect possibly damaging
Transcript: ENSMUST00000056225
AA Change: P116L

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117607
Predicted Effect probably benign
Transcript: ENSMUST00000124577
AA Change: P101L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000147742
AA Change: P445L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149761
Predicted Effect probably benign
Transcript: ENSMUST00000151231
SMART Domains Protein: ENSMUSP00000133189
Gene: ENSMUSG00000046774

DomainStartEndE-ValueType
Pfam:DUF4641 101 552 3.2e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163399
SMART Domains Protein: ENSMUSP00000130455
Gene: ENSMUSG00000046774

DomainStartEndE-ValueType
Pfam:DUF4641 102 545 1.6e-182 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,447 (GRCm39) D1406G possibly damaging Het
Aebp2 T C 6: 140,579,624 (GRCm39) probably null Het
Ap5m1 T A 14: 49,321,339 (GRCm39) Y49* probably null Het
Atp8b5 T C 4: 43,361,953 (GRCm39) probably benign Het
Baz1a A G 12: 54,970,224 (GRCm39) S518P probably damaging Het
Ces1c T A 8: 93,830,821 (GRCm39) D445V probably benign Het
Ctnnbl1 C T 2: 157,713,106 (GRCm39) H464Y probably benign Het
Cyp2j6 T C 4: 96,420,018 (GRCm39) K238E probably benign Het
Gdf10 G A 14: 33,646,148 (GRCm39) R99H probably damaging Het
Gucy2g A G 19: 55,198,708 (GRCm39) S812P probably damaging Het
Ifit3b C T 19: 34,589,417 (GRCm39) Q198* probably null Het
Irgm1 A T 11: 48,757,417 (GRCm39) Y131* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Myh7b A G 2: 155,474,175 (GRCm39) N1630S probably benign Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nme6 A G 9: 109,671,159 (GRCm39) probably benign Het
Or11g25 T A 14: 50,723,065 (GRCm39) I50N probably damaging Het
Or5al6 T C 2: 85,976,908 (GRCm39) T57A probably damaging Het
Plch2 T G 4: 155,075,224 (GRCm39) M797L probably benign Het
Plscr2 G T 9: 92,172,724 (GRCm39) E128* probably null Het
Plxna2 T A 1: 194,480,039 (GRCm39) D1403E probably damaging Het
Pou6f2 T C 13: 18,556,552 (GRCm39) T25A unknown Het
Psmb11 T C 14: 54,862,800 (GRCm39) V6A possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprd T G 4: 76,025,561 (GRCm39) S546R probably benign Het
Rbp3 A G 14: 33,676,411 (GRCm39) N120D probably benign Het
Skint1 C A 4: 111,878,527 (GRCm39) P153H possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Tmem201 A G 4: 149,806,902 (GRCm39) probably benign Het
Ube2v1 T C 2: 167,452,256 (GRCm39) N89D probably damaging Het
Zfp282 A T 6: 47,874,866 (GRCm39) probably null Het
Zfp560 C A 9: 20,260,240 (GRCm39) M207I probably benign Het
Zfp697 T C 3: 98,335,617 (GRCm39) Y461H probably damaging Het
Other mutations in Gm4779
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7126:Gm4779 UTSW X 100,837,777 (GRCm39) unclassified probably benign
R7298:Gm4779 UTSW X 100,837,777 (GRCm39) unclassified probably benign
R7300:Gm4779 UTSW X 100,837,777 (GRCm39) unclassified probably benign
R7301:Gm4779 UTSW X 100,837,777 (GRCm39) unclassified probably benign
R8258:Gm4779 UTSW X 100,837,390 (GRCm39) missense possibly damaging 0.71
R8259:Gm4779 UTSW X 100,837,390 (GRCm39) missense possibly damaging 0.71
R8260:Gm4779 UTSW X 100,837,390 (GRCm39) missense possibly damaging 0.71
R9253:Gm4779 UTSW X 100,836,917 (GRCm39) unclassified probably benign
Z1176:Gm4779 UTSW X 100,835,792 (GRCm39) missense unknown
Predicted Primers
Posted On 2017-05-15