Incidental Mutation 'IGL01664:Gm28539'
ID 103268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28539
Ensembl Gene ENSMUSG00000099908
Gene Name predicted gene 28539
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01664
Quality Score
Status
Chromosome 16
Chromosomal Location 18655334-18774997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18655523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 31 (H31R)
Ref Sequence ENSEMBL: ENSMUSP00000141101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005394] [ENSMUST00000055413] [ENSMUST00000115578] [ENSMUST00000123146] [ENSMUST00000190050] [ENSMUST00000191388]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005394
SMART Domains Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
Pfam:UFD1 18 194 2.1e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055413
AA Change: H31R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000060363
Gene: ENSMUSG00000071632
AA Change: H31R

DomainStartEndE-ValueType
Pfam:DUF3128 10 88 4.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115578
SMART Domains Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262

DomainStartEndE-ValueType
Pfam:UFD1 19 194 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123146
AA Change: H31R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140943
Gene: ENSMUSG00000071632
AA Change: H31R

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170325
Predicted Effect possibly damaging
Transcript: ENSMUST00000190050
AA Change: H31R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908
AA Change: H31R

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190776
Predicted Effect probably benign
Transcript: ENSMUST00000191388
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col19a1 T A 1: 24,600,416 (GRCm39) Y42F unknown Het
Ddx31 T C 2: 28,765,847 (GRCm39) probably benign Het
Fbln2 G A 6: 91,210,439 (GRCm39) D128N probably damaging Het
Fgf7 G T 2: 125,877,907 (GRCm39) M91I probably benign Het
Hivep1 T G 13: 42,312,755 (GRCm39) V1665G probably benign Het
Ifih1 T C 2: 62,442,044 (GRCm39) probably benign Het
Il10 G T 1: 130,949,214 (GRCm39) R125L possibly damaging Het
Kalrn C T 16: 34,114,531 (GRCm39) R574H probably damaging Het
Lmln A G 16: 32,901,357 (GRCm39) E251G probably benign Het
Or4e5 T C 14: 52,728,002 (GRCm39) N57D probably benign Het
Or52n2c T C 7: 104,574,311 (GRCm39) Y220C probably damaging Het
Or56a3b T A 7: 104,771,423 (GRCm39) L253Q probably damaging Het
Otol1 A G 3: 69,935,130 (GRCm39) D374G probably benign Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Polr3e T C 7: 120,530,540 (GRCm39) probably benign Het
Sectm1a A T 11: 120,959,870 (GRCm39) S149T possibly damaging Het
Slfn10-ps A G 11: 82,926,761 (GRCm39) noncoding transcript Het
Sox1ot A G 8: 12,480,670 (GRCm39) noncoding transcript Het
Tnik G T 3: 28,692,628 (GRCm39) G895C probably damaging Het
Other mutations in Gm28539
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Gm28539 APN 16 18,773,530 (GRCm39) splice site probably benign
Posted On 2014-01-21