Incidental Mutation 'IGL01326:Fam102b'
ID74287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam102b
Ensembl Gene ENSMUSG00000040339
Gene Namefamily with sequence similarity 102, member B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL01326
Quality Score
Status
Chromosome3
Chromosomal Location108970997-109027607 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108979785 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 299 (V299A)
Ref Sequence ENSEMBL: ENSMUSP00000131904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046924] [ENSMUST00000171143]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046924
AA Change: V268A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039751
Gene: ENSMUSG00000040339
AA Change: V268A

DomainStartEndE-ValueType
Pfam:NT-C2 1 118 7.7e-24 PFAM
low complexity region 230 257 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171143
AA Change: V299A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131904
Gene: ENSMUSG00000040339
AA Change: V299A

DomainStartEndE-ValueType
Pfam:NT-C2 3 149 1.3e-31 PFAM
low complexity region 261 288 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Fam102b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:Fam102b APN 3 108980292 missense probably damaging 1.00
R0362:Fam102b UTSW 3 108980181 missense probably benign 0.37
R0502:Fam102b UTSW 3 108992685 missense probably damaging 1.00
R0505:Fam102b UTSW 3 108980204 missense probably benign 0.00
R0686:Fam102b UTSW 3 108992685 missense probably damaging 1.00
R2568:Fam102b UTSW 3 108978848 missense probably benign 0.09
R3721:Fam102b UTSW 3 108979767 missense probably damaging 1.00
R4466:Fam102b UTSW 3 108979808 missense probably benign 0.31
R4613:Fam102b UTSW 3 109027255 missense probably benign 0.12
R4946:Fam102b UTSW 3 108980228 missense probably benign 0.00
R5182:Fam102b UTSW 3 108985351 missense possibly damaging 0.81
R5831:Fam102b UTSW 3 108992703 missense possibly damaging 0.73
R5930:Fam102b UTSW 3 108980152 missense probably benign 0.00
R7432:Fam102b UTSW 3 109003407 missense probably damaging 0.97
R7601:Fam102b UTSW 3 108988312 missense possibly damaging 0.51
R8309:Fam102b UTSW 3 109027342 start gained probably benign
Posted On2013-10-07