Incidental Mutation 'IGL02409:Fam120a'
ID292225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam120a
Ensembl Gene ENSMUSG00000038014
Gene Namefamily with sequence similarity 120, member A
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02409
Quality Score
Status
Chromosome13
Chromosomal Location48879219-48968017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48967359 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 157 (V157A)
Ref Sequence ENSEMBL: ENSMUSP00000053877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060805]
Predicted Effect probably benign
Transcript: ENSMUST00000060805
AA Change: V157A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053877
Gene: ENSMUSG00000038014
AA Change: V157A

DomainStartEndE-ValueType
Blast:XPGN 1 112 1e-15 BLAST
low complexity region 348 361 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
low complexity region 852 866 N/A INTRINSIC
low complexity region 881 897 N/A INTRINSIC
low complexity region 959 966 N/A INTRINSIC
low complexity region 972 986 N/A INTRINSIC
low complexity region 996 1006 N/A INTRINSIC
low complexity region 1026 1044 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180775
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Elavl1 A T 8: 4,289,838 I248N possibly damaging Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Fam120a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Fam120a APN 13 48889133 missense probably benign
IGL01087:Fam120a APN 13 48902073 missense probably damaging 1.00
IGL02052:Fam120a APN 13 48933945 splice site probably benign
IGL03172:Fam120a APN 13 48910336 missense probably damaging 1.00
Green_flash UTSW 13 48891964 missense probably damaging 1.00
Sunset UTSW 13 48910250 splice site probably null
upended UTSW 13 48897667 missense probably damaging 1.00
R0036:Fam120a UTSW 13 48889264 splice site probably benign
R0042:Fam120a UTSW 13 48934014 missense probably damaging 1.00
R0689:Fam120a UTSW 13 48967638 missense probably damaging 1.00
R0741:Fam120a UTSW 13 48891940 missense possibly damaging 0.91
R0899:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R0900:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R0987:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R0989:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R0990:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1080:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1121:Fam120a UTSW 13 48910437 splice site probably null
R1265:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1423:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1611:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1755:Fam120a UTSW 13 48885743 missense possibly damaging 0.70
R1888:Fam120a UTSW 13 48885866 missense possibly damaging 0.50
R1888:Fam120a UTSW 13 48885866 missense possibly damaging 0.50
R2041:Fam120a UTSW 13 48897767 missense probably benign 0.01
R2433:Fam120a UTSW 13 48933968 missense probably damaging 1.00
R2496:Fam120a UTSW 13 48967593 missense probably damaging 0.99
R3122:Fam120a UTSW 13 48892086 missense possibly damaging 0.45
R4279:Fam120a UTSW 13 48889258 missense probably benign 0.00
R4758:Fam120a UTSW 13 48880857 missense probably benign 0.02
R4924:Fam120a UTSW 13 48902096 missense probably benign 0.04
R5000:Fam120a UTSW 13 48897667 missense probably damaging 1.00
R5039:Fam120a UTSW 13 48910250 splice site probably null
R5194:Fam120a UTSW 13 48880935 missense probably benign
R5772:Fam120a UTSW 13 48880933 missense probably benign
R6765:Fam120a UTSW 13 48891964 missense probably damaging 1.00
R6820:Fam120a UTSW 13 48880992 missense possibly damaging 0.51
R6833:Fam120a UTSW 13 48934041 missense probably damaging 1.00
R6895:Fam120a UTSW 13 48892021 missense probably benign 0.07
R6946:Fam120a UTSW 13 48881020 missense possibly damaging 0.83
R7032:Fam120a UTSW 13 48949113 missense probably benign 0.34
R7081:Fam120a UTSW 13 48910325 missense probably damaging 0.98
R7289:Fam120a UTSW 13 48892006 missense probably damaging 1.00
R7503:Fam120a UTSW 13 48949247 missense probably benign 0.00
R8200:Fam120a UTSW 13 48949119 missense not run
X0003:Fam120a UTSW 13 48949138 missense probably damaging 1.00
Posted On2015-04-16