Incidental Mutation 'R6469:Gm20767'
ID520288
Institutional Source Beutler Lab
Gene Symbol Gm20767
Ensembl Gene ENSMUSG00000096323
Gene Namepredicted gene, 20767
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #R6469 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location120140246-120155335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120154813 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 63 (W63R)
Ref Sequence ENSEMBL: ENSMUSP00000152988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179071] [ENSMUST00000225683]
Predicted Effect probably damaging
Transcript: ENSMUST00000179071
AA Change: W63R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137504
Gene: ENSMUSG00000096323
AA Change: W63R

DomainStartEndE-ValueType
Pfam:DUF1438 7 155 3.2e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225683
AA Change: W63R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.3%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T G 3: 138,066,975 S642A probably damaging Het
Aadacl2 A T 3: 60,024,789 T242S probably benign Het
Adprh T C 16: 38,450,309 M45V probably benign Het
Akr1c13 T C 13: 4,196,512 probably null Het
Ap3d1 A C 10: 80,712,158 V900G probably benign Het
Bak1 G A 17: 27,021,319 R125C probably damaging Het
Bmpr1b T C 3: 141,856,461 T322A possibly damaging Het
Camsap3 T A 8: 3,603,941 L521Q possibly damaging Het
Col6a6 A T 9: 105,698,691 F2157I probably damaging Het
Dcun1d4 G A 5: 73,534,614 M155I probably damaging Het
Diaph3 T C 14: 86,656,538 S12G possibly damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fgb A T 3: 83,046,142 L107* probably null Het
Ganab T C 19: 8,902,632 probably null Het
Gba C T 3: 89,204,081 P51L probably benign Het
Glb1l2 T C 9: 26,796,532 D60G probably benign Het
Idh3b AG AGCACCACAACTG 2: 130,279,673 probably null Het
Itih2 A G 2: 10,123,413 V159A possibly damaging Het
Kif1b T C 4: 149,192,596 M1337V probably benign Het
Lrch1 C T 14: 74,817,085 R323Q probably damaging Het
Lrrc30 T C 17: 67,631,865 N240S probably benign Het
Mrgpra9 T C 7: 47,235,106 Y271C probably benign Het
Ncor1 T C 11: 62,343,302 H682R probably damaging Het
Olfr115 A T 17: 37,610,313 V146E probably damaging Het
Pax9 C A 12: 56,696,863 F98L probably damaging Het
Phlpp1 G A 1: 106,287,103 R585Q probably damaging Het
Prkdc A G 16: 15,795,075 T3166A probably benign Het
Prr11 T A 11: 87,097,177 Q300L possibly damaging Het
Rad50 T A 11: 53,684,235 E620D probably benign Het
Rpl3 A T 15: 80,083,345 probably null Het
Sacs G T 14: 61,191,248 G252V probably damaging Het
Serpina3i T A 12: 104,266,517 V227E probably damaging Het
Smap2 GACTCTAC GAC 4: 120,973,085 probably benign Het
Snx19 T C 9: 30,427,743 V59A possibly damaging Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Tsc1 G A 2: 28,671,886 probably null Het
Vmn2r61 C T 7: 42,265,859 Q77* probably null Het
Wdr72 A G 9: 74,213,361 H954R probably benign Het
Zbtb21 T C 16: 97,956,772 M20V probably benign Het
Zkscan16 A T 4: 58,956,483 D255V probably damaging Het
Other mutations in Gm20767
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1004:Gm20767 UTSW 13 120155022 missense probably benign 0.00
R3753:Gm20767 UTSW 13 120154631 missense possibly damaging 0.56
R3930:Gm20767 UTSW 13 120154832 missense probably damaging 0.98
R4873:Gm20767 UTSW 13 120154670 missense probably damaging 0.98
R4875:Gm20767 UTSW 13 120154670 missense probably damaging 0.98
R5020:Gm20767 UTSW 13 120155116 missense possibly damaging 0.85
R5599:Gm20767 UTSW 13 120154922 missense probably damaging 0.99
R5802:Gm20767 UTSW 13 120154913 missense possibly damaging 0.93
R6535:Gm20767 UTSW 13 120154654 missense probably damaging 0.98
R7543:Gm20767 UTSW 13 120154754 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGATGATGCAGTCCTTTTCCGG -3'
(R):5'- CCACCATCACAGGTTGCAAG -3'

Sequencing Primer
(F):5'- CCGGTTTTGTCAAGGATACATCAG -3'
(R):5'- AGGTTGCAAGATCCAGTCC -3'
Posted On2018-06-06