Incidental Mutation 'IGL01605:Fam163b'
ID278739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam163b
Ensembl Gene ENSMUSG00000009216
Gene Namefamily with sequence similarity 163, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01605
Quality Score
Status
Chromosome2
Chromosomal Location27110380-27142491 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27112676 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 103 (F103S)
Ref Sequence ENSEMBL: ENSMUSP00000127556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]
Predicted Effect probably benign
Transcript: ENSMUST00000091233
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TSP1 50 106 5.14e-7 SMART
Pfam:ADAM_spacer1 214 331 5.4e-28 PFAM
low complexity region 345 358 N/A INTRINSIC
TSP1 573 629 8.15e-1 SMART
TSP1 631 692 1.85e-2 SMART
TSP1 694 744 4.15e-1 SMART
TSP1 747 796 9.98e-5 SMART
TSP1 803 861 4.95e-2 SMART
TSP1 863 914 2.53e-6 SMART
Pfam:PLAC 922 953 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139633
Predicted Effect probably damaging
Transcript: ENSMUST00000151224
AA Change: F103S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216
AA Change: F103S

DomainStartEndE-ValueType
Pfam:FAM163 1 167 1.2e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169787
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brip1 T A 11: 86,062,004 T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 Y417H probably damaging Het
Chd7 T A 4: 8,833,834 I1196N probably damaging Het
Cyp3a57 T C 5: 145,387,044 F447S probably damaging Het
Dock8 C T 19: 25,089,888 probably benign Het
G0s2 A G 1: 193,272,656 L40P probably damaging Het
Gm2046 A T 12: 87,973,760 noncoding transcript Het
Gucy1b1 C T 3: 82,035,353 R494Q probably benign Het
Hsd17b1 T C 11: 101,078,929 V89A probably damaging Het
Iqcg T C 16: 33,016,978 probably benign Het
Lmo7 T C 14: 101,910,756 probably benign Het
Mmp17 A G 5: 129,601,944 D331G probably benign Het
Mnx1 T C 5: 29,477,593 D228G unknown Het
Msh2 T C 17: 87,696,489 probably benign Het
Pabpc1 A G 15: 36,599,306 Y382H probably benign Het
Prl7b1 A G 13: 27,602,044 S214P possibly damaging Het
Ptk2 C T 15: 73,264,339 probably benign Het
Rbpj-ps3 T C 6: 46,530,091 probably benign Het
Sgsm1 A T 5: 113,285,665 M162K possibly damaging Het
Skint2 A G 4: 112,625,994 T199A probably benign Het
Stim1 A G 7: 102,386,115 D100G possibly damaging Het
Taar5 C T 10: 23,971,064 T120I probably benign Het
Trhde A G 10: 114,787,943 V352A probably benign Het
Ubap2 T A 4: 41,227,237 D160V probably damaging Het
Vmn2r18 A G 5: 151,586,641 V89A possibly damaging Het
Wbp1l A G 19: 46,654,400 D264G possibly damaging Het
Other mutations in Fam163b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Fam163b APN 2 27113585 missense probably damaging 1.00
IGL01602:Fam163b APN 2 27112676 missense probably damaging 0.99
IGL02074:Fam163b APN 2 27113558 missense probably damaging 1.00
IGL02582:Fam163b APN 2 27113558 missense probably damaging 1.00
R0238:Fam163b UTSW 2 27112634 missense probably damaging 1.00
R0238:Fam163b UTSW 2 27112634 missense probably damaging 1.00
R0535:Fam163b UTSW 2 27112766 missense probably benign 0.05
R0611:Fam163b UTSW 2 27113571 missense probably damaging 1.00
R1333:Fam163b UTSW 2 27113647 utr 5 prime probably benign
R1768:Fam163b UTSW 2 27112862 missense possibly damaging 0.86
R2437:Fam163b UTSW 2 27112686 missense probably damaging 1.00
R5096:Fam163b UTSW 2 27112749 missense probably benign 0.00
R6277:Fam163b UTSW 2 27112751 missense probably benign 0.45
R7142:Fam163b UTSW 2 27113555 missense probably damaging 1.00
R7648:Fam163b UTSW 2 27112740 missense probably benign 0.00
R8361:Fam163b UTSW 2 27112638 missense probably benign 0.00
R8363:Fam163b UTSW 2 27112638 missense probably benign 0.00
Posted On2015-04-16