Incidental Mutation 'R2971:Gm4779'
ID477688
Institutional Source Beutler Lab
Gene Symbol Gm4779
Ensembl Gene ENSMUSG00000045010
Gene Namepredicted gene 4779
Synonyms
MMRRC Submission 040525-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #R2971 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location101790053-101794423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 101792962 bp
ZygosityHeterozygous
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]
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: 79,099,699 D1406G possibly damaging Het
Aebp2 T C 6: 140,633,898 probably null Het
Ap5m1 T A 14: 49,083,882 Y49* probably null Het
Atp8b5 T C 4: 43,361,953 probably benign Het
Baz1a A G 12: 54,923,439 S518P probably damaging Het
Ces1c T A 8: 93,104,193 D445V probably benign Het
Ctnnbl1 C T 2: 157,871,186 H464Y probably benign Het
Cyp2j6 T C 4: 96,531,781 K238E probably benign Het
Gdf10 G A 14: 33,924,191 R99H probably damaging Het
Gucy2g A G 19: 55,210,276 S812P probably damaging Het
Ifit3b C T 19: 34,612,017 Q198* probably null Het
Irgm1 A T 11: 48,866,590 Y131* probably null Het
Man1c1 G C 4: 134,703,438 P11R probably damaging Het
Myh7b A G 2: 155,632,255 N1630S probably benign Het
Myo5a T C 9: 75,116,202 I15T probably damaging Het
Naip6 C T 13: 100,300,600 A472T probably benign Het
Nme6 A G 9: 109,842,091 probably benign Het
Olfr1040 T C 2: 86,146,564 T57A probably damaging Het
Olfr741 T A 14: 50,485,608 I50N probably damaging Het
Plch2 T G 4: 154,990,767 M797L probably benign Het
Plscr2 G T 9: 92,290,671 E128* probably null Het
Plxna2 T A 1: 194,797,731 D1403E probably damaging Het
Pou6f2 T C 13: 18,381,967 T25A unknown Het
Psmb11 T C 14: 54,625,343 V6A possibly damaging Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptprd T G 4: 76,107,324 S546R probably benign Het
Rbp3 A G 14: 33,954,454 N120D probably benign Het
Skint1 C A 4: 112,021,330 P153H possibly damaging Het
Slc15a4 A G 5: 127,604,536 probably null Het
Tmem201 A G 4: 149,722,445 probably benign Het
Ube2v1 T C 2: 167,610,336 N89D probably damaging Het
Zfp282 A T 6: 47,897,932 probably null Het
Zfp560 C A 9: 20,348,944 M207I probably benign Het
Zfp697 T C 3: 98,428,301 Y461H probably damaging Het
Other mutations in Gm4779
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7126:Gm4779 UTSW X 101794171 unclassified probably benign
R7298:Gm4779 UTSW X 101794171 unclassified probably benign
R7300:Gm4779 UTSW X 101794171 unclassified probably benign
R7301:Gm4779 UTSW X 101794171 unclassified probably benign
R8258:Gm4779 UTSW X 101793784 missense possibly damaging 0.71
R8259:Gm4779 UTSW X 101793784 missense possibly damaging 0.71
R8260:Gm4779 UTSW X 101793784 missense possibly damaging 0.71
Z1176:Gm4779 UTSW X 101792186 missense unknown
Predicted Primers
Posted On2017-05-15