Incidental Mutation 'R0037:Gm5475'
ID15466
Institutional Source Beutler Lab
Gene Symbol Gm5475
Ensembl Gene ENSMUSG00000087444
Gene Namepredicted gene 5475
Synonyms
MMRRC Submission 038331-MU
Accession Numbers

Ensembl: ENSMUST00000148928, ENSMUST00000132119; MGI:3646320

Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R0037 (G1)
Quality Score
Status Validated
Chromosome15
Chromosomal Location100422147-100428150 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 100424202 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 77 (Y77*)
Ref Sequence ENSEMBL: ENSMUSP00000114462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000132119] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000148928] [ENSMUST00000154331] [ENSMUST00000154676]
Predicted Effect probably benign
Transcript: ENSMUST00000023774
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 1.1e-122 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123461
SMART Domains Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 170 2.9e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132119
AA Change: Y77*
SMART Domains Protein: ENSMUSP00000114783
Gene: ENSMUSG00000087444
AA Change: Y77*

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 144 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136168
Predicted Effect probably benign
Transcript: ENSMUST00000138843
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 4.7e-118 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000148928
AA Change: Y77*
SMART Domains Protein: ENSMUSP00000114462
Gene: ENSMUSG00000087444
AA Change: Y77*

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154331
SMART Domains Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154676
SMART Domains Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Meta Mutation Damage Score 0.636 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars G A 8: 111,043,259 R330Q possibly damaging Het
Amph A T 13: 19,100,653 S250C possibly damaging Het
Ankrd61 T C 5: 143,894,977 N3S probably damaging Het
Camsap2 C T 1: 136,281,892 E621K probably damaging Het
Cpt2 A G 4: 107,907,974 S152P probably damaging Het
Csmd1 T A 8: 15,917,248 Q3205L probably damaging Het
Dag1 G T 9: 108,207,353 P863Q probably damaging Het
Dclk1 A G 3: 55,256,059 I191V probably benign Het
Ddhd1 A G 14: 45,610,510 L567P probably damaging Het
Enox1 T C 14: 77,699,310 probably benign Het
Exoc3 T C 13: 74,199,539 E104G probably damaging Het
Foxp1 T A 6: 99,162,969 Q17L probably damaging Het
Fscn1 A G 5: 142,970,694 probably benign Het
Fut8 T C 12: 77,365,037 V91A probably benign Het
Gm5800 T C 14: 51,716,148 probably benign Het
Hs2st1 T A 3: 144,437,644 K213* probably null Het
Il5ra T A 6: 106,742,686 Y62F probably damaging Het
Inpp5d A G 1: 87,708,129 E734G probably damaging Het
Insig2 A T 1: 121,306,920 C194S probably damaging Het
Lemd3 A C 10: 120,925,456 H898Q possibly damaging Het
Lrp4 A G 2: 91,471,203 T43A probably benign Het
Mast3 C T 8: 70,783,699 probably null Het
Melk T C 4: 44,360,864 probably benign Het
Myo10 C T 15: 25,666,532 probably benign Het
Nlrc5 G A 8: 94,489,535 V967M probably benign Het
Nlrp9b T A 7: 20,023,722 F295I probably damaging Het
Phf3 A T 1: 30,804,918 D1653E probably benign Het
Ppfia4 A T 1: 134,324,089 L449Q probably damaging Het
Ppp1r16b T A 2: 158,757,209 I367N probably damaging Het
Ralgapb T C 2: 158,437,411 L139S probably damaging Het
Slc20a1 T C 2: 129,210,772 V658A probably damaging Het
Son C A 16: 91,664,728 A347E probably damaging Het
Tprgl C A 4: 154,160,137 V134L possibly damaging Het
Trim24 A T 6: 37,957,549 N733I probably damaging Het
Uggt1 A T 1: 36,185,932 D540E probably benign Het
Urb2 T A 8: 124,047,195 F1488L probably damaging Het
Utp20 T C 10: 88,798,404 D810G probably benign Het
Zfp473 T A 7: 44,733,900 K335N probably damaging Het
Other mutations in Gm5475
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Gm5475 APN 15 100424215 unclassified probably benign
R2219:Gm5475 UTSW 15 100424213 unclassified probably benign
R4258:Gm5475 UTSW 15 100424236 unclassified probably benign
R6934:Gm5475 UTSW 15 100427126 unclassified probably benign
R7269:Gm5475 UTSW 15 100427009 missense unknown
X0028:Gm5475 UTSW 15 100424239 unclassified probably benign
Posted On2012-12-21