Incidental Mutation 'IGL02569:Fam187a'
ID298963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam187a
Ensembl Gene ENSMUSG00000075510
Gene Namefamily with sequence similarity 187, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL02569
Quality Score
Status
Chromosome11
Chromosomal Location102885169-102886731 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102886159 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 263 (K263R)
Ref Sequence ENSEMBL: ENSMUSP00000097938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369] [ENSMUST00000159834]
Predicted Effect probably benign
Transcript: ENSMUST00000021307
SMART Domains Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

DomainStartEndE-ValueType
Pfam:Dynein_attach_N 7 74 3.3e-32 PFAM
Pfam:RPAP3_C 98 188 1.2e-19 PFAM
low complexity region 219 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067444
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

DomainStartEndE-ValueType
Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077902
SMART Domains Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932

DomainStartEndE-ValueType
Pfam:Filament_head 1 64 1.6e-7 PFAM
Pfam:Filament 65 373 1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100369
AA Change: K263R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: K263R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 39 142 3.73e0 SMART
IG_like 275 361 1.61e1 SMART
transmembrane domain 377 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159834
SMART Domains Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

DomainStartEndE-ValueType
coiled coil region 8 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fabp2 T C 3: 122,895,464 F18L probably damaging Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Fgfbp1 A G 5: 43,979,227 F241S probably damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Kcnk9 T C 15: 72,512,577 T251A probably benign Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Pde1a C A 2: 79,868,258 K341N probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St6galnac1 T C 11: 116,767,702 D312G probably damaging Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in Fam187a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02886:Fam187a APN 11 102886554 missense probably benign 0.00
R1735:Fam187a UTSW 11 102885780 missense probably damaging 1.00
R1864:Fam187a UTSW 11 102886011 missense probably damaging 1.00
R2258:Fam187a UTSW 11 102885298 unclassified probably benign
R2259:Fam187a UTSW 11 102885298 unclassified probably benign
R2424:Fam187a UTSW 11 102885954 missense probably damaging 1.00
R3753:Fam187a UTSW 11 102885849 missense probably benign 0.00
R4206:Fam187a UTSW 11 102886212 missense probably damaging 0.97
R5176:Fam187a UTSW 11 102886464 missense probably damaging 0.99
R6011:Fam187a UTSW 11 102885441 missense probably damaging 1.00
R6520:Fam187a UTSW 11 102885875 missense possibly damaging 0.52
R6683:Fam187a UTSW 11 102886189 missense probably damaging 1.00
R7309:Fam187a UTSW 11 102886006 missense probably damaging 1.00
R7605:Fam187a UTSW 11 102886048 missense possibly damaging 0.58
R8352:Fam187a UTSW 11 102886574 nonsense probably null
Posted On2015-04-16