Incidental Mutation 'R8363:Gm8247'
ID 646067
Institutional Source Beutler Lab
Gene Symbol Gm8247
Ensembl Gene ENSMUSG00000091122
Gene Name predicted gene 8247
Synonyms
MMRRC Submission 067654-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8363 (G1)
Quality Score 144.008
Status Not validated
Chromosome 14
Chromosomal Location 44820610-44825859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44823919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 202 (I202F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178759] [ENSMUST00000227882] [ENSMUST00000228629]
AlphaFold J3KMT2
Predicted Effect
SMART Domains Protein: ENSMUSP00000132825
Gene: ENSMUSG00000091122
AA Change: I202F

DomainStartEndE-ValueType
Pfam:Takusan 57 137 1.6e-26 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178759
AA Change: I111F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136003
Gene: ENSMUSG00000091122
AA Change: I111F

DomainStartEndE-ValueType
Pfam:Takusan 5 45 8.1e-9 PFAM
coiled coil region 73 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227882
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,800 (GRCm39) I375L Het
Adamts18 C T 8: 114,493,795 (GRCm39) G448D probably damaging Het
Bzw2 A G 12: 36,180,122 (GRCm39) V35A probably benign Het
C2cd4d C T 3: 94,271,157 (GRCm39) T141M probably benign Het
Chchd4 T A 6: 91,444,737 (GRCm39) K17* probably null Het
Cmas C T 6: 142,702,554 (GRCm39) P19L probably benign Het
Colec10 A G 15: 54,274,238 (GRCm39) H22R probably benign Het
D630045J12Rik T C 6: 38,125,376 (GRCm39) D1546G probably damaging Het
Dgki A T 6: 36,993,613 (GRCm39) C583S probably damaging Het
Dhrs13 G T 11: 77,925,343 (GRCm39) V205L probably damaging Het
Eif4a3l1 T G 6: 136,306,453 (GRCm39) S305A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Erc1 T C 6: 119,730,260 (GRCm39) D612G probably benign Het
Fam163b G A 2: 27,002,650 (GRCm39) R116C probably benign Het
Gm5160 T C 18: 14,557,929 (GRCm39) V2A possibly damaging Het
Gnpat T C 8: 125,590,038 (GRCm39) V21A probably benign Het
Igfn1 A T 1: 135,891,625 (GRCm39) S2297T probably benign Het
Igkv13-85 A G 6: 68,907,269 (GRCm39) Y111H probably damaging Het
Il17rd A G 14: 26,813,906 (GRCm39) N206D probably damaging Het
Il1r2 G A 1: 40,160,095 (GRCm39) V272M probably damaging Het
Ivl T A 3: 92,479,525 (GRCm39) H180L possibly damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kirrel2 A G 7: 30,152,968 (GRCm39) V350A probably damaging Het
Mcpt4 A G 14: 56,299,692 (GRCm39) S14P probably damaging Het
Mdm2 A G 10: 117,526,239 (GRCm39) V449A probably damaging Het
Mga T C 2: 119,794,407 (GRCm39) V2697A probably benign Het
Mlxipl T C 5: 135,135,930 (GRCm39) F52L probably benign Het
Mtarc2 A G 1: 184,566,055 (GRCm39) probably null Het
Ndst3 T C 3: 123,350,517 (GRCm39) S623G possibly damaging Het
Oas1a C T 5: 121,043,902 (GRCm39) A77T probably damaging Het
Or4d1 A T 11: 87,805,069 (GRCm39) I221N probably damaging Het
Or9a2 T C 6: 41,748,684 (GRCm39) Q183R probably benign Het
P3h2 A G 16: 25,811,468 (GRCm39) F252L probably damaging Het
Psme4 A G 11: 30,762,139 (GRCm39) D493G probably damaging Het
Rab3ip A C 10: 116,754,869 (GRCm39) I229S probably damaging Het
Ralgapb T C 2: 158,268,119 (GRCm39) L74P probably damaging Het
Scn1a G T 2: 66,152,601 (GRCm39) N804K probably damaging Het
Slc22a6 A T 19: 8,596,386 (GRCm39) H124L probably benign Het
Slc6a6 A G 6: 91,727,277 (GRCm39) I492V probably benign Het
Snx2 G T 18: 53,330,936 (GRCm39) E134* probably null Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tcp11 A G 17: 28,288,221 (GRCm39) S415P possibly damaging Het
Vmn2r67 A T 7: 84,804,969 (GRCm39) S48T probably benign Het
Vps16 T A 2: 130,284,161 (GRCm39) F665L probably benign Het
Wdhd1 A T 14: 47,513,989 (GRCm39) D22E probably damaging Het
Zng1 A T 19: 24,920,091 (GRCm39) H175Q probably benign Het
Other mutations in Gm8247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01556:Gm8247 APN 14 44,823,811 (GRCm39) nonsense probably null
IGL01982:Gm8247 APN 14 44,823,088 (GRCm39) missense probably damaging 0.98
R7185:Gm8247 UTSW 14 44,823,859 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGGAAGATGGATGCTTCCTGG -3'
(R):5'- TCTTCAAAAGAGGGTAAGTCCAC -3'

Sequencing Primer
(F):5'- AAGATGGATGCTTCCTGGATTCACC -3'
(R):5'- GTCCACAGAAAGTCTTGGAAATGATC -3'
Posted On 2020-09-02