Incidental Mutation 'IGL01664:Gm28539'
ID103268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28539
Ensembl Gene ENSMUSG00000099908
Gene Namepredicted gene 28539
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01664
Quality Score
Status
Chromosome16
Chromosomal Location18836584-18956247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18836773 bp
ZygosityHeterozygous
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]
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: 24,561,335 Y42F unknown Het
Ddx31 T C 2: 28,875,835 probably benign Het
Fbln2 G A 6: 91,233,457 D128N probably damaging Het
Fgf7 G T 2: 126,035,987 M91I probably benign Het
Hivep1 T G 13: 42,159,279 V1665G probably benign Het
Ifih1 T C 2: 62,611,700 probably benign Het
Il10 G T 1: 131,021,477 R125L possibly damaging Het
Kalrn C T 16: 34,294,161 R574H probably damaging Het
Lmln A G 16: 33,080,987 E251G probably benign Het
Olfr1507 T C 14: 52,490,545 N57D probably benign Het
Olfr668 T C 7: 104,925,104 Y220C probably damaging Het
Olfr681 T A 7: 105,122,216 L253Q probably damaging Het
Otol1 A G 3: 70,027,797 D374G probably benign Het
Pcdhb15 T C 18: 37,474,261 V182A probably benign Het
Polr3e T C 7: 120,931,317 probably benign Het
Sectm1a A T 11: 121,069,044 S149T possibly damaging Het
Slfn10-ps A G 11: 83,035,935 noncoding transcript Het
Sox1ot A G 8: 12,430,670 noncoding transcript Het
Tnik G T 3: 28,638,479 G895C probably damaging Het
Other mutations in Gm28539
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Gm28539 APN 16 18954780 splice site probably benign
Posted On2014-01-21