Incidental Mutation 'IGL01559:Gm10642'
ID90803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10642
Ensembl Gene ENSMUSG00000074213
Gene Namepredicted gene 10642
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01559
Quality Score
Status
Chromosome9
Chromosomal Location70656251-70657860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70656592 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 152 (D152V)
Ref Sequence ENSEMBL: ENSMUSP00000150300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000098589] [ENSMUST00000213380]
Predicted Effect probably damaging
Transcript: ENSMUST00000049031
AA Change: D152V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: D152V

DomainStartEndE-ValueType
low complexity region 22 41 N/A INTRINSIC
low complexity region 79 86 N/A INTRINSIC
low complexity region 126 173 N/A INTRINSIC
low complexity region 186 195 N/A INTRINSIC
Pfam:DUF544 250 373 6.9e-42 PFAM
low complexity region 498 508 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 578 595 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000098589
AA Change: V10D
SMART Domains Protein: ENSMUSP00000096188
Gene: ENSMUSG00000074213
AA Change: V10D

DomainStartEndE-ValueType
low complexity region 12 39 N/A INTRINSIC
low complexity region 55 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213380
AA Change: D152V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214293
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,309,020 N2915K possibly damaging Het
Abca5 T C 11: 110,272,526 N1621S probably benign Het
Asb18 G A 1: 89,954,450 S122F probably damaging Het
Atg4c A G 4: 99,218,203 probably benign Het
Bbs7 T C 3: 36,594,510 Y363C probably damaging Het
Celsr2 T C 3: 108,406,867 T1281A possibly damaging Het
Cers1 A G 8: 70,323,233 N295S probably damaging Het
Csn1s2b A T 5: 87,820,951 K80* probably null Het
Dennd6a A G 14: 26,608,565 D97G probably damaging Het
Dmxl1 A G 18: 49,920,938 Y2537C probably damaging Het
Dnah6 A G 6: 73,024,252 probably null Het
Exoc4 A G 6: 33,266,076 T75A probably damaging Het
Fbll1 T C 11: 35,797,545 E297G probably damaging Het
Hdac3 A G 18: 37,943,672 probably benign Het
Kif17 A G 4: 138,293,769 I850V probably damaging Het
Olfr166 T C 16: 19,487,459 L207P probably benign Het
Pi4kb T A 3: 94,984,129 L52Q probably benign Het
Sec14l1 C A 11: 117,143,284 probably null Het
Slc28a2 T A 2: 122,454,540 H336Q probably damaging Het
Usp17lb A G 7: 104,841,229 S164P probably damaging Het
Posted On2013-12-09