Incidental Mutation 'IGL01619:Fam72a'
ID92498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam72a
Ensembl Gene ENSMUSG00000055184
Gene Namefamily with sequence similarity 72, member A
SynonymsP17, 2700049P18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL01619
Quality Score
Status
Chromosome1
Chromosomal Location131527903-131539872 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131533912 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 112 (I112V)
Ref Sequence ENSEMBL: ENSMUSP00000068111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068613]
Predicted Effect probably benign
Transcript: ENSMUST00000068613
AA Change: I112V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000068111
Gene: ENSMUSG00000055184
AA Change: I112V

DomainStartEndE-ValueType
Pfam:FAM72 5 149 3.9e-84 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 T C 15: 36,485,967 T47A possibly damaging Het
Asxl3 T G 18: 22,523,328 V1465G probably damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Celsr3 A T 9: 108,834,557 D1657V probably damaging Het
Cntn6 G A 6: 104,728,374 probably benign Het
Def6 C T 17: 28,207,864 L8F probably damaging Het
Dnah9 T A 11: 65,831,615 K1940* probably null Het
Dock10 A G 1: 80,634,298 probably benign Het
Fam166b G A 4: 43,427,814 T170I possibly damaging Het
Fgl1 A T 8: 41,196,971 W258R probably damaging Het
Ints6l G T X: 56,496,744 probably benign Het
Lifr A T 15: 7,191,162 N1091I probably damaging Het
Mga T C 2: 119,931,828 I1100T possibly damaging Het
Mrpl40 T A 16: 18,872,544 M139L probably benign Het
Myom1 T C 17: 71,044,476 probably benign Het
Olfr164 T A 16: 19,286,159 T195S probably damaging Het
Pcdhb5 T C 18: 37,322,939 F791L probably damaging Het
Prss29 T C 17: 25,321,139 probably null Het
Ranbp2 A G 10: 58,464,078 probably null Het
Serpinb9e A G 13: 33,255,125 K178R probably damaging Het
Shtn1 A G 19: 59,028,169 S233P probably damaging Het
Smpd1 G A 7: 105,555,342 V143M possibly damaging Het
Terb1 G A 8: 104,473,014 H433Y probably benign Het
Traf6 C T 2: 101,690,098 Q164* probably null Het
Trip12 C A 1: 84,814,910 R4L probably damaging Het
Ttn G A 2: 76,863,535 P208S possibly damaging Het
Ube2c T C 2: 164,771,312 I50T probably damaging Het
Uggt1 T C 1: 36,161,694 D1174G probably damaging Het
Vmn2r121 T G X: 124,132,300 M387L probably benign Het
Vmn2r18 T A 5: 151,586,764 N48I probably benign Het
Zc3h15 T C 2: 83,660,173 L217P probably damaging Het
Zyg11a T A 4: 108,205,217 E129V probably damaging Het
Other mutations in Fam72a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0548:Fam72a UTSW 1 131533861 missense probably damaging 1.00
R0943:Fam72a UTSW 1 131528779 missense possibly damaging 0.82
R1037:Fam72a UTSW 1 131533819 missense probably damaging 1.00
R1728:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1728:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1729:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1729:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1730:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1730:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1739:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1739:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1762:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1762:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1783:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1783:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1784:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1784:Fam72a UTSW 1 131538895 missense probably benign 0.00
R1785:Fam72a UTSW 1 131530668 missense probably benign 0.00
R1785:Fam72a UTSW 1 131538895 missense probably benign 0.00
R2508:Fam72a UTSW 1 131528854 critical splice donor site probably null
R6589:Fam72a UTSW 1 131533816 missense probably damaging 1.00
Posted On2013-12-09