Incidental Mutation 'IGL02095:Fam151a'
ID279590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam151a
Ensembl Gene ENSMUSG00000034871
Gene Namefamily with sequence simliarity 151, member A
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02095
Quality Score
Status
Chromosome4
Chromosomal Location106733889-106748292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106747875 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 478 (V478A)
Ref Sequence ENSEMBL: ENSMUSP00000047860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047620] [ENSMUST00000065253] [ENSMUST00000102762] [ENSMUST00000140541]
Predicted Effect probably damaging
Transcript: ENSMUST00000047620
AA Change: V478A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: V478A

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:DUF2181 70 310 2.9e-107 PFAM
Pfam:DUF2181 342 579 8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065253
SMART Domains Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
Pfam:4HBT 84 157 7e-10 PFAM
Pfam:4HBT 255 331 2.6e-13 PFAM
START 405 603 1.49e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102762
SMART Domains Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
Pfam:4HBT 64 136 7.2e-10 PFAM
Pfam:4HBT 235 311 6.7e-13 PFAM
START 385 583 1.49e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140541
SMART Domains Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853

DomainStartEndE-ValueType
PDB:3B7K|C 32 71 3e-10 PDB
SCOP:d1lo7a_ 37 69 2e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,626 Q794L probably benign Het
Acrbp C A 6: 125,053,956 Y313* probably null Het
Adam9 A G 8: 24,996,729 S178P probably benign Het
Adgrv1 T C 13: 81,579,790 I244V possibly damaging Het
Atad5 A G 11: 80,094,707 S207G probably benign Het
Atp10a A G 7: 58,807,393 D880G probably damaging Het
Cadps2 A G 6: 23,427,310 I573T probably benign Het
Camsap3 A G 8: 3,603,845 D494G probably damaging Het
Cbfa2t3 T C 8: 122,633,493 E438G probably damaging Het
Cisd2 T C 3: 135,411,219 D37G possibly damaging Het
Cndp2 T C 18: 84,681,032 E36G possibly damaging Het
Ddx54 G A 5: 120,623,791 G544D possibly damaging Het
Dok2 G T 14: 70,777,861 G343W possibly damaging Het
Dscaml1 A G 9: 45,447,703 N87D probably damaging Het
Ehf T C 2: 103,266,991 Y237C probably damaging Het
Exoc3 T C 13: 74,180,536 T569A probably damaging Het
Fam227b T A 2: 126,101,004 H291L probably damaging Het
Fmn2 A G 1: 174,502,601 T186A unknown Het
Ggnbp2 T C 11: 84,833,128 Y660C probably damaging Het
Ggt5 G A 10: 75,608,803 M318I probably benign Het
Gprc5d A G 6: 135,116,177 I244T probably damaging Het
Gucy2e A G 11: 69,232,787 S429P possibly damaging Het
Igf2r T C 17: 12,702,005 D1341G probably damaging Het
Kcnq4 T C 4: 120,700,027 probably benign Het
Krt40 T C 11: 99,541,671 D173G probably damaging Het
Lrrc27 C T 7: 139,230,253 T380I probably benign Het
Lrrc4c A G 2: 97,629,404 N125S probably benign Het
Mtor C T 4: 148,544,541 R2217C probably damaging Het
Nfrkb C T 9: 31,411,231 R866W probably damaging Het
Olfr1424 C A 19: 12,059,549 V68F probably benign Het
Olfr982 T A 9: 40,074,671 Y125* probably null Het
P2ry6 T A 7: 100,938,864 D96V probably damaging Het
Pcdh18 A T 3: 49,756,156 S237T probably benign Het
Pck2 G A 14: 55,542,510 R72Q probably benign Het
Pik3c2a C T 7: 116,346,188 R1461Q probably damaging Het
Polr3a A G 14: 24,454,610 V1130A possibly damaging Het
Ppm1d T A 11: 85,327,006 D198E probably benign Het
Rasa1 T A 13: 85,216,155 E1022D probably benign Het
Rbm25 T C 12: 83,671,974 Y507H probably damaging Het
Rbm26 A T 14: 105,144,260 I488K probably damaging Het
Ryr2 T A 13: 11,759,759 E1170D probably damaging Het
Sdk2 T G 11: 113,834,830 T1198P probably damaging Het
Sema3g C T 14: 31,227,824 T654I probably benign Het
Spag9 A T 11: 94,108,582 H1108L probably damaging Het
Tcrg-C2 T A 13: 19,307,410 probably benign Het
Ubap2 T C 4: 41,229,709 N142S probably benign Het
Usp33 T C 3: 152,381,794 F699L possibly damaging Het
Ythdc2 A G 18: 44,873,140 probably benign Het
Other mutations in Fam151a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Fam151a APN 4 106747593 missense possibly damaging 0.56
IGL02170:Fam151a APN 4 106735598 critical splice donor site probably null
IGL02725:Fam151a APN 4 106748014 missense probably damaging 0.99
R0025:Fam151a UTSW 4 106748174 missense probably benign 0.16
R0114:Fam151a UTSW 4 106734004 missense possibly damaging 0.63
R0620:Fam151a UTSW 4 106747931 missense probably benign 0.06
R1345:Fam151a UTSW 4 106742294 missense probably damaging 0.99
R1482:Fam151a UTSW 4 106745679 missense probably damaging 1.00
R1965:Fam151a UTSW 4 106733915 unclassified probably benign
R2086:Fam151a UTSW 4 106735563 splice site probably null
R4078:Fam151a UTSW 4 106747757 missense probably benign 0.31
R4677:Fam151a UTSW 4 106748259 missense possibly damaging 0.72
R6110:Fam151a UTSW 4 106748198 missense probably damaging 0.98
R6188:Fam151a UTSW 4 106745499 missense possibly damaging 0.61
R6288:Fam151a UTSW 4 106748144 missense probably damaging 0.99
R6526:Fam151a UTSW 4 106734004 missense possibly damaging 0.63
R7298:Fam151a UTSW 4 106735528 missense possibly damaging 0.80
R7341:Fam151a UTSW 4 106735510 missense probably benign 0.00
R7363:Fam151a UTSW 4 106745484 missense probably damaging 1.00
R7573:Fam151a UTSW 4 106743305 missense probably damaging 1.00
R8368:Fam151a UTSW 4 106746993 missense probably benign 0.03
Posted On2015-04-16