Incidental Mutation 'IGL02489:Gm10100'
ID295535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10100
Ensembl Gene ENSMUSG00000096421
Gene Namepredicted gene 10100
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02489
Quality Score
Status
Chromosome10
Chromosomal Location77726486-77726848 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 77726811 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 109 (C109Y)
Ref Sequence ENSEMBL: ENSMUSP00000137358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000179726]
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179726
AA Change: C109Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137358
Gene: ENSMUSG00000096421
AA Change: C109Y

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 7.9e-8 PFAM
Pfam:Keratin_B2_2 29 74 2e-9 PFAM
Pfam:Keratin_B2_2 49 103 9.9e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,054,215 probably benign Het
Aldh6a1 T C 12: 84,433,972 T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 D426G probably damaging Het
Arhgef37 A G 18: 61,506,469 S280P possibly damaging Het
Bicd1 T C 6: 149,513,037 L416P probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpp T C 13: 49,650,118 probably null Het
Col5a2 T C 1: 45,392,811 probably null Het
Ctsa A G 2: 164,838,645 Y402C probably damaging Het
Dnah7a A G 1: 53,647,322 V223A possibly damaging Het
Dnajb3 G T 1: 88,205,310 N123K probably benign Het
Fhad1 G T 4: 141,957,620 N469K probably damaging Het
Fmo3 G T 1: 162,954,287 T499K possibly damaging Het
Lrrc27 G T 7: 139,226,061 R214L probably benign Het
Mc5r T A 18: 68,339,526 C319S probably damaging Het
Nwd2 A C 5: 63,805,227 Y718S probably damaging Het
Olfr1097 T G 2: 86,890,995 Y60S probably damaging Het
Ppa1 T A 10: 61,665,444 D163E probably damaging Het
Ptprk G T 10: 28,383,472 G303W probably damaging Het
Rnf182 T C 13: 43,668,303 L110P probably damaging Het
Slc12a2 T C 18: 57,912,002 F659S probably damaging Het
Slc5a3 T A 16: 92,077,705 Y217N possibly damaging Het
Ttc41 G T 10: 86,760,914 E1008* probably null Het
Unc80 T C 1: 66,525,701 M849T probably benign Het
Vmn2r76 A T 7: 86,228,863 I442N probably benign Het
Other mutations in Gm10100
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4557:Gm10100 UTSW 10 77726531 intron probably benign
R5388:Gm10100 UTSW 10 77726726 missense probably benign 0.07
R6225:Gm10100 UTSW 10 77726664 missense possibly damaging 0.86
R6259:Gm10100 UTSW 10 77726664 missense possibly damaging 0.86
Posted On2015-04-16