Incidental Mutation 'R2910:Gm379'
ID 261220
Institutional Source Beutler Lab
Gene Symbol Gm379
Ensembl Gene ENSMUSG00000093916
Gene Name predicted gene 379
Synonyms LOC236954
MMRRC Submission 040497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R2910 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 107707682-107708497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107708371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 43 (F43V)
Ref Sequence ENSEMBL: ENSMUSP00000137588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178160]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000178160
AA Change: F43V

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137588
Gene: ENSMUSG00000093916
AA Change: F43V

DomainStartEndE-ValueType
t_SNARE 196 263 4.61e-10 SMART
transmembrane domain 272 294 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Acap1 A G 11: 69,777,902 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,705,238 (GRCm39) A1524V possibly damaging Het
Agbl1 A G 7: 76,069,586 (GRCm39) N121D probably benign Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Asxl1 T C 2: 153,242,959 (GRCm39) S1170P probably benign Het
Atp8b3 G A 10: 80,355,746 (GRCm39) S1322F possibly damaging Het
Car15 G A 16: 17,656,006 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Cnnm1 A G 19: 43,458,086 (GRCm39) I633V possibly damaging Het
Cog8 A T 8: 107,780,853 (GRCm39) V135E probably benign Het
Cts6 A G 13: 61,344,215 (GRCm39) V279A probably damaging Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dock2 A G 11: 34,182,910 (GRCm39) probably benign Het
Ero1b T A 13: 12,615,178 (GRCm39) D336E probably damaging Het
F11 C G 8: 45,694,486 (GRCm39) *625S probably null Het
F5 A G 1: 164,032,389 (GRCm39) M1779V probably benign Het
Fam227a A T 15: 79,520,935 (GRCm39) D296E possibly damaging Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Ggt1 G A 10: 75,416,430 (GRCm39) V275M probably benign Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Iqcm A T 8: 76,441,404 (GRCm39) I226F probably benign Het
Kcnq1 T G 7: 142,979,699 (GRCm39) L615R probably damaging Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Muc5ac C T 7: 141,361,378 (GRCm39) T1563I probably damaging Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or5ak23 T A 2: 85,244,695 (GRCm39) H176L probably damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Pkd1l3 A G 8: 110,394,268 (GRCm39) probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Sema6d C A 2: 124,506,957 (GRCm39) P941T probably damaging Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Slc7a1 T C 5: 148,289,067 (GRCm39) E60G probably benign Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata31 T G 13: 65,068,250 (GRCm39) S133A probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tfpi A C 2: 84,274,437 (GRCm39) V184G possibly damaging Het
Tmeff1 C A 4: 48,614,961 (GRCm39) N139K possibly damaging Het
Tnxb A G 17: 34,891,424 (GRCm39) D589G probably damaging Het
Trpc1 C A 9: 95,631,895 (GRCm39) A16S probably benign Het
Vmn2r106 A C 17: 20,498,946 (GRCm39) L322V probably damaging Het
Vmn2r69 G T 7: 85,055,918 (GRCm39) A740D probably damaging Het
Other mutations in Gm379
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1903:Gm379 UTSW X 107,707,870 (GRCm39) nonsense probably null
R2911:Gm379 UTSW X 107,708,371 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CTGAATGATTCGGGCTTGGCTC -3'
(R):5'- ACTGAGCTGTCCCTGACTTC -3'

Sequencing Primer
(F):5'- TTGGCTCGCAAAGGAGGC -3'
(R):5'- GATGAATACATCTCCCTCTGTAGTC -3'
Posted On 2015-01-23