Incidental Mutation 'R8776-TAIL:Gm5475'
ID 668082
Institutional Source Beutler Lab
Gene Symbol Gm5475
Ensembl Gene ENSMUSG00000087444
Gene Name predicted gene 5475
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R8776-TAIL
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 100321074-100326031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100324892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 107 (F107L)
Ref Sequence ENSEMBL: ENSMUSP00000114783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000132119] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000148928] [ENSMUST00000154331] [ENSMUST00000154676]
AlphaFold D3YV11
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 unknown
Transcript: ENSMUST00000132119
AA Change: F107L
SMART Domains Protein: ENSMUSP00000114783
Gene: ENSMUSG00000087444
AA Change: F107L

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 benign
Transcript: ENSMUST00000148928
SMART Domains Protein: ENSMUSP00000114462
Gene: ENSMUSG00000087444

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 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,245,002 (GRCm39) Y117H probably benign Het
a A G 2: 154,892,612 (GRCm39) D97G probably damaging Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Chst9 T A 18: 15,586,086 (GRCm39) Y159F possibly damaging Het
Col26a1 G A 5: 136,911,708 (GRCm39) R52C probably damaging Het
Dchs2 A T 3: 83,263,701 (GRCm39) D3323V possibly damaging Het
Dqx1 T A 6: 83,035,619 (GRCm39) I44N probably damaging Het
Edc4 A G 8: 106,613,992 (GRCm39) D415G probably damaging Het
Enpp3 T A 10: 24,650,733 (GRCm39) D801V probably damaging Het
Fam13b G A 18: 34,584,446 (GRCm39) R573C probably damaging Het
Fgfr2 A T 7: 129,798,002 (GRCm39) I415N possibly damaging Het
Gm32742 T A 9: 51,067,230 (GRCm39) M366L probably benign Het
Gm49336 A T 14: 60,457,515 (GRCm39) S563T possibly damaging Het
Lamp3 T C 16: 19,474,252 (GRCm39) D374G probably damaging Het
Lin9 T C 1: 180,496,450 (GRCm39) probably null Het
Mef2d T C 3: 88,074,956 (GRCm39) S381P probably benign Het
Mfsd9 A G 1: 40,812,915 (GRCm39) *467Q probably null Het
Mpo A G 11: 87,693,538 (GRCm39) I639V possibly damaging Het
Mrgprh T C 17: 13,096,375 (GRCm39) I205T probably benign Het
Ncapd2 T C 6: 125,154,476 (GRCm39) D580G probably benign Het
Nkain4 T A 2: 180,585,920 (GRCm39) I48F probably damaging Het
Notch4 C A 17: 34,806,579 (GRCm39) R1839S probably damaging Het
Nr6a1 A G 2: 38,650,244 (GRCm39) Y129H probably damaging Het
Or7g19 T A 9: 18,856,286 (GRCm39) I114N possibly damaging Het
Robo1 G T 16: 72,821,141 (GRCm39) E1294* probably null Het
Septin8 A G 11: 53,428,343 (GRCm39) K331R probably benign Het
Shmt2 A G 10: 127,356,785 (GRCm39) probably null Het
Skint6 A C 4: 112,661,885 (GRCm39) L1233R possibly damaging Het
Slc41a3 A T 6: 90,621,165 (GRCm39) T402S probably benign Het
Slc9a2 A G 1: 40,781,889 (GRCm39) T373A probably damaging Het
Spata31d1b T C 13: 59,863,283 (GRCm39) C144R probably benign Het
Syne1 A G 10: 5,181,783 (GRCm39) V4184A possibly damaging Het
Tenm4 G A 7: 96,544,239 (GRCm39) R2122H probably damaging Het
Tlnrd1 A T 7: 83,532,316 (GRCm39) D38E probably benign Het
Tnnc2 C T 2: 164,620,135 (GRCm39) A6T probably benign Het
Usp9y A G Y: 1,356,320 (GRCm39) V1127A probably benign Het
Ylpm1 T C 12: 85,077,195 (GRCm39) Y1307H probably damaging Het
Zfp266 T C 9: 20,411,509 (GRCm39) S223G probably benign Het
Other mutations in Gm5475
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Gm5475 APN 15 100,322,096 (GRCm39) unclassified probably benign
R0037:Gm5475 UTSW 15 100,322,083 (GRCm39) nonsense probably null
R2219:Gm5475 UTSW 15 100,322,094 (GRCm39) unclassified probably benign
R4258:Gm5475 UTSW 15 100,322,117 (GRCm39) unclassified probably benign
R6934:Gm5475 UTSW 15 100,325,007 (GRCm39) unclassified probably benign
R7269:Gm5475 UTSW 15 100,324,890 (GRCm39) missense unknown
R8093:Gm5475 UTSW 15 100,321,893 (GRCm39) missense unknown
R8776:Gm5475 UTSW 15 100,324,892 (GRCm39) missense unknown
R9789:Gm5475 UTSW 15 100,324,881 (GRCm39) missense unknown
RF020:Gm5475 UTSW 15 100,325,030 (GRCm39) frame shift probably null
RF025:Gm5475 UTSW 15 100,325,033 (GRCm39) frame shift probably null
RF030:Gm5475 UTSW 15 100,325,037 (GRCm39) frame shift probably null
RF031:Gm5475 UTSW 15 100,325,029 (GRCm39) frame shift probably null
RF033:Gm5475 UTSW 15 100,325,025 (GRCm39) frame shift probably null
RF047:Gm5475 UTSW 15 100,325,037 (GRCm39) frame shift probably null
X0028:Gm5475 UTSW 15 100,322,120 (GRCm39) unclassified probably benign
Predicted Primers
Posted On 2021-03-08