Incidental Mutation 'R7264:Gm8257'
ID564830
Institutional Source Beutler Lab
Gene Symbol Gm8257
Ensembl Gene ENSMUSG00000079265
Gene Namepredicted pseudogene 8257
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R7264 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location44649204-44706456 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 44656360 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 82 (E82D)
Ref Sequence ENSEMBL: ENSMUSP00000128723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111860] [ENSMUST00000169583] [ENSMUST00000179215]
Predicted Effect probably damaging
Transcript: ENSMUST00000111860
AA Change: E46D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107491
Gene: ENSMUSG00000079265
AA Change: E46D

DomainStartEndE-ValueType
Pfam:Takusan 10 93 6.4e-35 PFAM
coiled coil region 108 141 N/A INTRINSIC
transmembrane domain 201 223 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169583
AA Change: E82D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: E82D

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3.5e-27 PFAM
coiled coil region 144 177 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179215
AA Change: E47D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136936
Gene: ENSMUSG00000079265
AA Change: E47D

DomainStartEndE-ValueType
Pfam:Takusan 11 94 8.9e-36 PFAM
coiled coil region 109 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A G 17: 23,712,334 S200P not run Het
Adora3 C A 3: 105,904,825 T9K probably benign Het
Ankib1 T A 5: 3,755,739 N176I probably damaging Het
Ankle2 G A 5: 110,237,823 G346D probably damaging Het
Anks1b T A 10: 90,512,870 M800K probably benign Het
Arhgef16 C T 4: 154,280,930 G576D probably damaging Het
BC030867 T A 11: 102,255,596 C233S probably benign Het
C2cd2 C A 16: 97,876,219 probably null Het
Cacna1c T C 6: 118,602,195 N1847S Het
Camta1 A G 4: 151,453,399 I108T probably damaging Het
Catsper4 TTCTC TTC 4: 134,227,112 probably null Het
Cep192 A G 18: 67,820,355 Y481C probably damaging Het
Cep250 A G 2: 155,979,151 E887G probably damaging Het
Clcn1 C A 6: 42,298,838 A298D probably damaging Het
Col11a1 A G 3: 114,185,599 N1305S unknown Het
Depdc5 T C 5: 32,967,745 V1155A probably benign Het
Dnah1 A T 14: 31,269,894 D3050E probably benign Het
Dnah7a T C 1: 53,518,814 D2147G probably benign Het
Fbxl4 T C 4: 22,386,145 Y251H possibly damaging Het
Gm19410 A G 8: 35,785,766 M622V probably benign Het
Gm3402 T A 5: 146,514,662 M110K probably damaging Het
Gm4778 C T 3: 94,265,738 H14Y possibly damaging Het
Gne T A 4: 44,042,175 I498F probably damaging Het
Gstcd C T 3: 133,084,779 V76I probably benign Het
Hgs G T 11: 120,474,313 V176L probably benign Het
Igbp1b T C 6: 138,658,110 N112S possibly damaging Het
Itga11 A T 9: 62,745,908 T355S probably benign Het
Lama1 A T 17: 67,743,297 H301L Het
Lhx9 T C 1: 138,832,751 D296G probably damaging Het
Lrp1 C T 10: 127,592,093 G537D probably damaging Het
Mroh2b A G 15: 4,921,362 I581V possibly damaging Het
Mrps36 A G 13: 100,739,199 S36P probably benign Het
Olfr618 T A 7: 103,597,748 I144N probably damaging Het
Plcb4 A T 2: 135,965,080 N547I probably benign Het
Plch2 T A 4: 154,998,967 M505L probably damaging Het
Prg4 T A 1: 150,454,067 N154Y not run Het
Rev1 A T 1: 38,085,601 V420D probably damaging Het
Rin3 A G 12: 102,390,115 I972V probably benign Het
Rtel1 T C 2: 181,351,861 L775P not run Het
Scarf2 G T 16: 17,803,290 C274F possibly damaging Het
Serinc2 C T 4: 130,258,259 V271I probably benign Het
Slpi C A 2: 164,356,402 probably benign Het
Stxbp6 T C 12: 44,901,999 D109G probably damaging Het
Tmem74 G A 15: 43,867,468 L60F probably benign Het
Trhde C T 10: 114,800,871 G144S possibly damaging Het
Trrap T C 5: 144,814,523 S1610P probably benign Het
Ttc33 C T 15: 5,217,237 Q175* probably null Het
Usp34 A G 11: 23,333,566 T106A probably benign Het
Vmn1r204 A G 13: 22,556,997 D266G probably benign Het
Wdfy3 C A 5: 101,855,523 A2905S probably benign Het
Wfs1 A G 5: 36,967,846 L567P probably damaging Het
Zfp42 T C 8: 43,296,275 E63G probably damaging Het
Zfp957 A G 14: 79,213,640 F240L probably damaging Het
Zgrf1 A T 3: 127,563,569 M815L probably benign Het
Other mutations in Gm8257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Gm8257 APN 14 44655343 missense probably damaging 1.00
IGL02616:Gm8257 APN 14 44655226 missense probably damaging 1.00
R4602:Gm8257 UTSW 14 44656317 missense probably damaging 1.00
R5678:Gm8257 UTSW 14 44657249 missense probably damaging 1.00
R7374:Gm8257 UTSW 14 44650283 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAGGATGACCATAGAACCCAC -3'
(R):5'- TTTGGGACTCAGAATGGTCTCCC -3'

Sequencing Primer
(F):5'- TCTCATCCAACAATTTAACAACTGTC -3'
(R):5'- AGAATGGTCTCCCTGCCCTG -3'
Posted On2019-06-26