Incidental Mutation 'R3925:Gm38100'
ID474852
Institutional Source Beutler Lab
Gene Symbol Gm38100
Ensembl Gene ENSMUSG00000104158
Gene Namepredicted gene, 38100
Synonyms
MMRRC Submission 040916-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #R3925 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location175920329-175922225 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 175921286 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 306 (V306A)
Ref Sequence ENSEMBL: ENSMUSP00000144267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194391] [ENSMUST00000201297]
Predicted Effect probably benign
Transcript: ENSMUST00000194391
AA Change: V306A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: V306A

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:APG6 126 440 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201297
AA Change: V306A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: V306A

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:APG6 126 440 6.1e-95 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,578,772 T487I possibly damaging Het
Amn T C 12: 111,275,680 V367A possibly damaging Het
C230029F24Rik AGAAAG A 1: 49,310,929 noncoding transcript Het
Cdkl1 G T 12: 69,756,599 R168S probably damaging Het
Cfap43 T C 19: 47,797,116 K445R probably benign Het
Crct1 C A 3: 93,014,707 probably benign Het
Eif4e G A 3: 138,555,437 G164D probably damaging Het
Eno1 T C 4: 150,239,568 probably null Het
Hmcn2 G A 2: 31,453,157 R4565Q probably benign Het
Itgal A T 7: 127,324,537 probably benign Het
Klhl1 A T 14: 96,346,880 C305S possibly damaging Het
Ms4a2 A G 19: 11,618,948 M139T probably benign Het
Nr2e3 C T 9: 59,948,433 R213H probably damaging Het
Olfr1102 A G 2: 87,002,374 Y135C possibly damaging Het
Olfr224 T A 11: 58,566,826 H173L probably benign Het
Olfr664 T A 7: 104,734,189 E58D probably benign Het
Onecut2 A G 18: 64,341,520 K381E probably damaging Het
Pabpc1l T A 2: 164,027,676 probably benign Het
Prim2 A G 1: 33,533,299 L253P probably damaging Het
Pycr1 T C 11: 120,642,135 T100A probably benign Het
Qrfpr T C 3: 36,221,923 N106S possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Het
Selenoi T A 5: 30,256,088 D107E probably damaging Het
Synrg C T 11: 84,040,899 P1321S probably benign Het
Tcrg-V7 A G 13: 19,178,474 Y111C probably damaging Het
Trp53rkb A G 2: 166,795,472 Y116C probably damaging Het
Usp34 T A 11: 23,343,640 F245I probably benign Het
Utrn C T 10: 12,698,042 V1095I probably benign Het
Xpnpep1 T C 19: 52,991,697 H632R probably damaging Het
Zfp735 T C 11: 73,711,124 I298T probably benign Het
Zfp953 T A 13: 67,347,938 Y13F probably damaging Het
Other mutations in Gm38100
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3623:Gm38100 UTSW 1 175920631 missense possibly damaging 0.88
R3922:Gm38100 UTSW 1 175921286 missense probably benign 0.00
R3926:Gm38100 UTSW 1 175921286 missense probably benign 0.00
R5192:Gm38100 UTSW 1 175920842 missense probably benign 0.24
R5275:Gm38100 UTSW 1 175920770 missense probably benign 0.07
R5666:Gm38100 UTSW 1 175921613 missense probably damaging 1.00
R5670:Gm38100 UTSW 1 175921613 missense probably damaging 1.00
Predicted Primers
Posted On2017-04-14