Incidental Mutation 'IGL03258:Myrip'
ID414729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myrip
Ensembl Gene ENSMUSG00000041794
Gene Namemyosin VIIA and Rab interacting protein
SynonymsA230081N12Rik, Slac2-c
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03258
Quality Score
Status
Chromosome9
Chromosomal Location120301513-120474841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120441352 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 556 (N556S)
Ref Sequence ENSEMBL: ENSMUSP00000046891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048121]
Predicted Effect probably benign
Transcript: ENSMUST00000048121
AA Change: N556S

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: N556S

DomainStartEndE-ValueType
Pfam:FYVE_2 8 125 3.8e-46 PFAM
Pfam:Rab_eff_C 152 856 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,137,561 probably benign Het
Adam1b A G 5: 121,501,384 S533P possibly damaging Het
Akr1c6 G T 13: 4,436,409 G72C probably damaging Het
Carf C T 1: 60,109,229 T28I possibly damaging Het
Cog1 G A 11: 113,655,093 W398* probably null Het
Dmpk A G 7: 19,092,206 probably null Het
Dmxl1 T C 18: 49,920,893 V2534A probably damaging Het
Fam78b A T 1: 167,078,754 T161S probably damaging Het
Fgd6 A T 10: 94,133,353 T1161S probably benign Het
Gpr158 A T 2: 21,825,274 D710V probably damaging Het
H2-Q4 A G 17: 35,380,119 I122V probably benign Het
Ifi211 A T 1: 173,905,532 C188S probably benign Het
Lamc3 A C 2: 31,887,683 S114R probably damaging Het
Lrrc57 C T 2: 120,605,222 A239T probably damaging Het
Mdga1 A G 17: 29,839,913 Y707H probably damaging Het
Ms4a6b T G 19: 11,521,708 L62R probably damaging Het
Mtmr4 A T 11: 87,612,003 H961L possibly damaging Het
Osgep T C 14: 50,917,889 T71A possibly damaging Het
Plin4 T C 17: 56,104,371 T887A probably benign Het
Pwwp2a T A 11: 43,704,565 F186I probably benign Het
Serpina1b G T 12: 103,730,396 S251R probably benign Het
Setd7 T C 3: 51,560,515 probably null Het
Slc24a5 G T 2: 125,080,705 probably null Het
Slc25a17 A G 15: 81,329,042 probably benign Het
Slc5a4a T C 10: 76,150,552 V98A possibly damaging Het
Susd1 A T 4: 59,379,655 I324N possibly damaging Het
Tcaf3 A G 6: 42,589,839 L772P probably damaging Het
Other mutations in Myrip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Myrip APN 9 120388264 missense probably damaging 1.00
IGL02108:Myrip APN 9 120467565 critical splice donor site probably null
IGL02406:Myrip APN 9 120467532 missense probably benign
IGL02876:Myrip APN 9 120432674 missense probably damaging 1.00
IGL03109:Myrip APN 9 120453724 splice site probably null
PIT4581001:Myrip UTSW 9 120467517 missense probably damaging 0.98
R0485:Myrip UTSW 9 120441377 missense probably benign 0.01
R0633:Myrip UTSW 9 120388236 missense probably damaging 1.00
R1489:Myrip UTSW 9 120432529 missense probably damaging 1.00
R1539:Myrip UTSW 9 120424623 missense probably benign 0.00
R1708:Myrip UTSW 9 120464774 missense possibly damaging 0.65
R1817:Myrip UTSW 9 120388162 missense probably damaging 1.00
R1818:Myrip UTSW 9 120388162 missense probably damaging 1.00
R1878:Myrip UTSW 9 120424655 missense probably damaging 0.99
R2484:Myrip UTSW 9 120424619 missense probably benign 0.00
R3237:Myrip UTSW 9 120441407 missense possibly damaging 0.91
R3890:Myrip UTSW 9 120422258 missense probably damaging 1.00
R3912:Myrip UTSW 9 120432616 missense probably benign
R3919:Myrip UTSW 9 120432629 missense probably damaging 1.00
R4125:Myrip UTSW 9 120464698 nonsense probably null
R4126:Myrip UTSW 9 120464698 nonsense probably null
R4128:Myrip UTSW 9 120464698 nonsense probably null
R4435:Myrip UTSW 9 120335614 start gained probably benign
R4599:Myrip UTSW 9 120464784 missense probably damaging 0.97
R5014:Myrip UTSW 9 120422468 missense probably damaging 1.00
R5665:Myrip UTSW 9 120461433 missense probably damaging 1.00
R5814:Myrip UTSW 9 120424668 missense probably benign 0.06
R5849:Myrip UTSW 9 120453693 missense probably damaging 0.99
R5986:Myrip UTSW 9 120461421 missense probably damaging 1.00
R6706:Myrip UTSW 9 120388293 missense possibly damaging 0.93
R7019:Myrip UTSW 9 120422507 missense probably damaging 1.00
R7291:Myrip UTSW 9 120417141 missense probably damaging 0.97
R8204:Myrip UTSW 9 120432979 critical splice donor site probably null
R8557:Myrip UTSW 9 120417186 missense probably benign 0.32
R8853:Myrip UTSW 9 120461421 missense probably damaging 1.00
Z1177:Myrip UTSW 9 120432778 missense probably benign
Z1177:Myrip UTSW 9 120441481 missense probably damaging 1.00
Posted On2016-08-02