Incidental Mutation 'IGL00476:Chmp1b2'
ID 29562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp1b2
Ensembl Gene ENSMUSG00000031242
Gene Name charged multivesicular body protein 1B2
Synonyms 2610002M06Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00476
Quality Score
Status
Chromosome X
Chromosomal Location 106826357-106859940 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 106859766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101292] [ENSMUST00000120722] [ENSMUST00000143975] [ENSMUST00000144695] [ENSMUST00000167154]
AlphaFold Q9CQD4
Predicted Effect probably benign
Transcript: ENSMUST00000101292
SMART Domains Protein: ENSMUSP00000098850
Gene: ENSMUSG00000073007

DomainStartEndE-ValueType
DUF1693 9 328 6.24e-223 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120722
SMART Domains Protein: ENSMUSP00000113588
Gene: ENSMUSG00000031242

DomainStartEndE-ValueType
Pfam:Snf7 7 176 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143975
SMART Domains Protein: ENSMUSP00000122208
Gene: ENSMUSG00000073007

DomainStartEndE-ValueType
Pfam:DUF1693 9 82 5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144695
Predicted Effect probably benign
Transcript: ENSMUST00000167154
SMART Domains Protein: ENSMUSP00000129483
Gene: ENSMUSG00000073007

DomainStartEndE-ValueType
DUF1693 9 328 6.24e-223 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,035 (GRCm39) T47A possibly damaging Het
Adgrv1 A G 13: 81,637,193 (GRCm39) F3416S probably damaging Het
Arhgap42 T C 9: 9,006,344 (GRCm39) D684G probably damaging Het
Atp13a1 T C 8: 70,249,547 (GRCm39) L270P probably damaging Het
Baz2b T C 2: 59,744,083 (GRCm39) N1474S probably benign Het
Chrna6 A G 8: 27,896,560 (GRCm39) I439T probably damaging Het
Cylc2 T C 4: 51,228,157 (GRCm39) M76T probably damaging Het
Ddx19a T C 8: 111,703,102 (GRCm39) K445R probably benign Het
Dennd4a A T 9: 64,819,044 (GRCm39) Y1733F probably damaging Het
Dop1b G A 16: 93,596,914 (GRCm39) probably benign Het
Ephb3 T A 16: 21,039,165 (GRCm39) probably null Het
Gpc2 G A 5: 138,272,571 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Ldhd G T 8: 112,355,270 (GRCm39) R238S possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep T G 14: 61,064,810 (GRCm39) L388R probably damaging Het
Mucl3 G T 17: 35,948,994 (GRCm39) H202N possibly damaging Het
Naa35 A G 13: 59,777,869 (GRCm39) D610G probably damaging Het
Nae1 A T 8: 105,253,013 (GRCm39) L137Q possibly damaging Het
Nt5dc3 T C 10: 86,669,838 (GRCm39) probably null Het
Nyx T C X: 13,353,264 (GRCm39) F373L possibly damaging Het
Scaf11 A T 15: 96,316,461 (GRCm39) D1034E possibly damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Taar7a A T 10: 23,868,294 (GRCm39) probably benign Het
Tcf23 G T 5: 31,130,869 (GRCm39) C169F probably benign Het
Trim7 A T 11: 48,738,905 (GRCm39) N308I probably benign Het
Ubxn8 T C 8: 34,125,333 (GRCm39) E89G probably benign Het
Other mutations in Chmp1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Chmp1b2 APN X 106,831,450 (GRCm39) missense probably damaging 0.97
IGL03355:Chmp1b2 APN X 106,831,889 (GRCm39) missense possibly damaging 0.78
Posted On 2013-04-17