Incidental Mutation 'R6445:Gm36864'
ID 519160
Institutional Source Beutler Lab
Gene Symbol Gm36864
Ensembl Gene ENSMUSG00000108622
Gene Name predicted gene, 36864
Synonyms
MMRRC Submission 044388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43885601-43892615 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43886842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 245 (Q245L)
Ref Sequence ENSEMBL: ENSMUSP00000152432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000205530] [ENSMUST00000206366] [ENSMUST00000206686] [ENSMUST00000222162] [ENSMUST00000223070]
AlphaFold A0A1Y7VJE6
Predicted Effect probably benign
Transcript: ENSMUST00000037220
SMART Domains Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

DomainStartEndE-ValueType
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157814
Predicted Effect probably benign
Transcript: ENSMUST00000205530
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208099
Predicted Effect silent
Transcript: ENSMUST00000222162
Predicted Effect possibly damaging
Transcript: ENSMUST00000223070
AA Change: Q245L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 C A 14: 44,738,731 (GRCm39) D43E probably benign Het
Cdh22 T C 2: 165,012,612 (GRCm39) I158V probably damaging Het
Cntrl A G 2: 35,052,860 (GRCm39) I1676V probably benign Het
Crem T C 18: 3,309,671 (GRCm39) Y18C probably benign Het
Cyp2b9 A G 7: 25,886,412 (GRCm39) I146V probably benign Het
Efcab14 C A 4: 115,613,668 (GRCm39) H205Q possibly damaging Het
Efcab6 T C 15: 83,752,558 (GRCm39) Y1437C probably damaging Het
Gm3055 T A 10: 81,945,506 (GRCm39) N375K possibly damaging Het
Gna11 A T 10: 81,369,167 (GRCm39) I132N probably damaging Het
Ikzf4 C A 10: 128,472,424 (GRCm39) probably null Het
Il9r C T 11: 32,141,000 (GRCm39) G346D possibly damaging Het
Krt71 C T 15: 101,648,775 (GRCm39) R190Q probably benign Het
Mfsd8 T C 3: 40,791,553 (GRCm39) I54V probably damaging Het
Nktr G T 9: 121,577,480 (GRCm39) probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or5ac17 A T 16: 59,036,472 (GRCm39) F168Y probably damaging Het
Peli2 T C 14: 48,493,905 (GRCm39) S376P possibly damaging Het
Pik3r2 C T 8: 71,224,670 (GRCm39) A202T probably benign Het
Pms1 A T 1: 53,231,353 (GRCm39) I832K possibly damaging Het
Reln T C 5: 22,124,212 (GRCm39) K2765E probably benign Het
Rp1 A T 1: 4,296,840 (GRCm39) N744K unknown Het
Smcr8 T C 11: 60,669,841 (GRCm39) Y330H possibly damaging Het
Sned1 A T 1: 93,211,318 (GRCm39) R281S possibly damaging Het
Synm A G 7: 67,383,393 (GRCm39) V1423A probably benign Het
Syt10 G A 15: 89,698,471 (GRCm39) T291I probably damaging Het
Ttn T C 2: 76,744,880 (GRCm39) probably benign Het
Wdr3 T C 3: 100,063,719 (GRCm39) T186A possibly damaging Het
Zfp451 A C 1: 33,812,092 (GRCm39) D874E probably damaging Het
Other mutations in Gm36864
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6699:Gm36864 UTSW 7 43,888,196 (GRCm39) missense possibly damaging 0.49
R7852:Gm36864 UTSW 7 43,886,361 (GRCm39) small deletion probably benign
R8051:Gm36864 UTSW 7 43,891,976 (GRCm39) missense probably benign 0.34
R8738:Gm36864 UTSW 7 43,886,304 (GRCm39) nonsense probably null
R9019:Gm36864 UTSW 7 43,887,028 (GRCm39) missense probably benign 0.03
R9600:Gm36864 UTSW 7 43,886,275 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTGGGTGAACATAAAAGATACGC -3'
(R):5'- CCGCATGAAGAAGATGGTGTC -3'

Sequencing Primer
(F):5'- GGTCTCGGGGTCTCTCTACATAGAC -3'
(R):5'- CGCATGAAGAAGATGGTGTCAATGG -3'
Posted On 2018-05-24