Incidental Mutation 'IGL01312:Fam35a'
ID73707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam35a
Ensembl Gene ENSMUSG00000041471
Gene Namefamily with sequence similarity 35, member A
Synonyms3110001K24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL01312
Quality Score
Status
Chromosome14
Chromosomal Location34237033-34310493 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34268193 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 252 (D252G)
Ref Sequence ENSEMBL: ENSMUSP00000154080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000227006] [ENSMUST00000227375] [ENSMUST00000228337] [ENSMUST00000228626] [ENSMUST00000228704]
Predicted Effect probably benign
Transcript: ENSMUST00000111917
AA Change: D252G

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: D252G

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
low complexity region 163 177 N/A INTRINSIC
Pfam:FAM35_C 694 866 4.6e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227006
Predicted Effect probably benign
Transcript: ENSMUST00000227375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228310
Predicted Effect probably benign
Transcript: ENSMUST00000228337
Predicted Effect possibly damaging
Transcript: ENSMUST00000228626
AA Change: D252G

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000228704
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,256,508 D385E probably benign Het
Ankle2 G T 5: 110,234,352 V65L probably benign Het
C3 G A 17: 57,225,993 probably benign Het
Colgalt1 G A 8: 71,622,776 R442H probably damaging Het
Epb41l2 A G 10: 25,441,587 M1V probably null Het
Etaa1 A G 11: 17,945,909 L736S probably damaging Het
Foxm1 T C 6: 128,373,374 F546S probably damaging Het
Fscn3 T C 6: 28,434,470 I348T probably damaging Het
Gcm2 T C 13: 41,103,131 T381A probably damaging Het
Nup153 T C 13: 46,686,824 T1103A probably benign Het
Olfr1129 A G 2: 87,575,174 Q30R probably damaging Het
Pde7b A G 10: 20,436,194 probably null Het
St7 T A 6: 17,922,014 I361N probably damaging Het
Stard5 C T 7: 83,633,189 P70L probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tas2r134 T A 2: 51,628,235 L242H probably damaging Het
Tnrc6b G A 15: 80,923,578 R1577H probably damaging Het
Trappc11 C A 8: 47,505,677 A716S possibly damaging Het
Wdr35 C T 12: 9,008,655 T604M probably damaging Het
Zbtb24 T G 10: 41,451,889 I257S possibly damaging Het
Other mutations in Fam35a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Fam35a APN 14 34268625 missense probably benign 0.02
IGL00962:Fam35a APN 14 34249251 missense probably damaging 1.00
IGL01288:Fam35a APN 14 34259643 missense probably benign 0.00
IGL01302:Fam35a APN 14 34259727 missense probably benign 0.03
IGL01444:Fam35a APN 14 34237557 missense probably damaging 1.00
IGL01633:Fam35a APN 14 34249179 missense probably damaging 1.00
IGL02251:Fam35a APN 14 34268278 missense probably benign 0.10
IGL02927:Fam35a APN 14 34267701 missense probably damaging 1.00
IGL03183:Fam35a APN 14 34245186 missense probably benign 0.02
IGL03226:Fam35a APN 14 34268371 missense probably benign 0.08
R0111:Fam35a UTSW 14 34267729 missense probably damaging 0.98
R1170:Fam35a UTSW 14 34268491 missense possibly damaging 0.92
R1348:Fam35a UTSW 14 34268923 missense probably damaging 1.00
R1467:Fam35a UTSW 14 34268662 missense possibly damaging 0.92
R1467:Fam35a UTSW 14 34268662 missense possibly damaging 0.92
R1538:Fam35a UTSW 14 34268876 missense probably damaging 1.00
R1602:Fam35a UTSW 14 34267650 missense probably damaging 1.00
R1650:Fam35a UTSW 14 34259617 intron probably benign
R1777:Fam35a UTSW 14 34268173 missense probably benign 0.07
R1843:Fam35a UTSW 14 34267803 missense probably benign 0.01
R2425:Fam35a UTSW 14 34268689 missense probably damaging 0.96
R3837:Fam35a UTSW 14 34249185 missense probably damaging 0.99
R3838:Fam35a UTSW 14 34245368 missense probably benign 0.01
R3904:Fam35a UTSW 14 34259709 missense probably damaging 1.00
R3964:Fam35a UTSW 14 34259687 missense probably damaging 1.00
R4322:Fam35a UTSW 14 34259675 missense probably damaging 0.99
R4708:Fam35a UTSW 14 34267833 missense probably benign 0.17
R4771:Fam35a UTSW 14 34268706 missense probably damaging 1.00
R4838:Fam35a UTSW 14 34268625 missense probably benign 0.02
R5448:Fam35a UTSW 14 34268370 missense probably benign 0.32
R5874:Fam35a UTSW 14 34245258 missense probably benign 0.08
R6332:Fam35a UTSW 14 34268172 missense probably benign 0.07
R6333:Fam35a UTSW 14 34267608 missense probably damaging 1.00
R6476:Fam35a UTSW 14 34268014 missense probably benign 0.27
R6576:Fam35a UTSW 14 34268242 missense probably damaging 1.00
R7172:Fam35a UTSW 14 34237568 missense probably damaging 1.00
R7574:Fam35a UTSW 14 34237466 missense probably damaging 1.00
R7725:Fam35a UTSW 14 34268704 missense possibly damaging 0.86
R7755:Fam35a UTSW 14 34248890 missense probably damaging 0.99
R7840:Fam35a UTSW 14 34237566 missense probably damaging 1.00
R7881:Fam35a UTSW 14 34267767 missense possibly damaging 0.63
R7947:Fam35a UTSW 14 34268479 missense probably benign 0.27
R8192:Fam35a UTSW 14 34245216 missense probably benign 0.04
R8443:Fam35a UTSW 14 34267985 missense probably benign 0.00
R8492:Fam35a UTSW 14 34245232 missense probably damaging 0.99
X0009:Fam35a UTSW 14 34245186 missense probably benign 0.02
Z1177:Fam35a UTSW 14 34241471 missense probably benign 0.31
Z1177:Fam35a UTSW 14 34268598 missense probably damaging 1.00
Posted On2013-10-07