Incidental Mutation 'R5275:Gm38100'
ID403860
Institutional Source Beutler Lab
Gene Symbol Gm38100
Ensembl Gene ENSMUSG00000104158
Gene Namepredicted gene, 38100
Synonyms
MMRRC Submission 042838-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #R5275 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location175920329-175922225 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 175920770 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 134 (H134R)
Ref Sequence ENSEMBL: ENSMUSP00000144267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194391] [ENSMUST00000201297]
Predicted Effect probably benign
Transcript: ENSMUST00000194391
AA Change: H134R

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000144267
Gene: ENSMUSG00000104158
AA Change: H134R

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: H134R

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143887
Gene: ENSMUSG00000104158
AA Change: H134R

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:APG6 126 440 6.1e-95 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,235,659 R155H probably benign Het
Abcc1 C T 16: 14,466,186 L1222F probably damaging Het
Alpl T C 4: 137,749,608 T245A probably benign Het
Ank2 T C 3: 127,032,183 H378R probably damaging Het
Apold1 G T 6: 134,983,800 L72F probably damaging Het
Arhgef1 G A 7: 24,919,352 probably null Het
Atp5c1 T C 2: 10,068,733 R10G possibly damaging Het
Ccr10 C T 11: 101,174,285 V140M possibly damaging Het
Cep135 T A 5: 76,593,204 H42Q possibly damaging Het
Chd6 A G 2: 160,969,363 L1440P probably benign Het
Clca3a2 A G 3: 144,813,579 S279P probably damaging Het
Cma1 A T 14: 55,941,700 I233N probably damaging Het
Dnajc16 T C 4: 141,767,928 E493G possibly damaging Het
Dst T C 1: 34,180,148 S1890P probably benign Het
Ears2 T C 7: 122,048,198 R288G probably damaging Het
Elovl4 G A 9: 83,780,661 P273L possibly damaging Het
Fryl T C 5: 73,112,791 Y79C probably damaging Het
Gad1-ps A G 10: 99,444,889 noncoding transcript Het
Gm5117 T A 8: 31,739,567 noncoding transcript Het
Gm8882 T G 6: 132,361,877 Q126P unknown Het
Gm8909 T C 17: 36,161,675 probably null Het
Lmtk3 G A 7: 45,791,298 D243N probably damaging Het
Lsm7 T C 10: 80,854,620 E32G probably damaging Het
Olfr1309 T A 2: 111,983,829 I82F probably damaging Het
Olfr1344 A T 7: 6,440,016 T39S probably benign Het
Olfr728 T A 14: 50,140,496 I48F probably benign Het
Opa1 C T 16: 29,611,579 T451I probably damaging Het
Pcdh12 T A 18: 38,284,101 probably benign Het
Perm1 T C 4: 156,217,518 L173P probably benign Het
Plvap T C 8: 71,511,670 Q16R probably benign Het
Ppan T A 9: 20,889,773 Y115* probably null Het
Prl7d1 A T 13: 27,709,247 V227D probably damaging Het
Prss54 T C 8: 95,564,478 T165A probably damaging Het
Psrc1 A G 3: 108,386,359 I195V probably benign Het
Ptpn20 A G 14: 33,631,192 H296R probably benign Het
Rergl A G 6: 139,501,821 probably null Het
Rnf123 AT ATT 9: 108,064,003 probably null Het
Scfd1 A T 12: 51,415,589 H409L probably benign Het
Serpina3c T C 12: 104,148,378 E333G probably damaging Het
Serpinb6c A G 13: 33,893,817 F190S probably damaging Het
Slc24a5 C T 2: 125,085,861 T360I probably benign Het
Snx6 T C 12: 54,784,022 H51R probably damaging Het
Sorl1 A T 9: 42,030,902 V1009D probably benign Het
Tdh T C 14: 63,496,109 Y110C probably damaging Het
Tdrd9 T A 12: 112,051,912 L1255* probably null Het
Tlk1 C T 2: 70,752,205 probably benign Het
Tnc G A 4: 63,964,730 Q1885* probably null Het
Vcl T C 14: 21,010,078 V595A probably damaging Het
Vmn1r84 A T 7: 12,361,814 N305K probably benign Het
Zbtb2 T C 10: 4,368,508 K506R 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
R3925: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
R5666:Gm38100 UTSW 1 175921613 missense probably damaging 1.00
R5670:Gm38100 UTSW 1 175921613 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGCAGAGTCCCAAGTCAG -3'
(R):5'- AATCCTCTAGCTCCTGGGTCAG -3'

Sequencing Primer
(F):5'- TGCTTACCTCTGGCGGAC -3'
(R):5'- TAGCTCCTGGGTCAGCCTTG -3'
Posted On2016-07-22