Incidental Mutation 'IGL02074:Fam163b'
ID185929
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 #IGL02074
Quality Score
Status
Chromosome2
Chromosomal Location27110380-27142491 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27113558 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 28 (C28Y)
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: C28Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216
AA Change: C28Y

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Ankrd33b C A 15: 31,297,661 V317F probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Cnot6 T C 11: 49,689,243 H74R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Nexmif A T X: 104,087,891 M140K probably damaging Het
Olfr543 G T 7: 102,477,472 H133N probably benign Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ttr T C 18: 20,666,523 V46A probably benign Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P probably 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
IGL01605:Fam163b APN 2 27112676 missense probably damaging 0.99
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
Posted On2014-05-07