Incidental Mutation 'IGL02357:Gm5145'
ID290564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5145
Ensembl Gene ENSMUSG00000071273
Gene Namepredicted pseudogene 5145
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL02357
Quality Score
Status
Chromosome17
Chromosomal Location20570362-20571198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20570440 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 27 (I27F)
Ref Sequence ENSEMBL: ENSMUSP00000093293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095633] [ENSMUST00000169559]
Predicted Effect probably damaging
Transcript: ENSMUST00000095633
AA Change: I27F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093293
Gene: ENSMUSG00000071273
AA Change: I27F

DomainStartEndE-ValueType
RRM 17 84 5.29e-5 SMART
low complexity region 101 113 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
low complexity region 160 175 N/A INTRINSIC
low complexity region 179 199 N/A INTRINSIC
RRM 207 274 1.55e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169559
SMART Domains Protein: ENSMUSP00000129347
Gene: ENSMUSG00000091259

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:ANF_receptor 83 467 3.1e-33 PFAM
Pfam:NCD3G 510 563 5.2e-22 PFAM
Pfam:7tm_3 594 831 4.2e-51 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Casp9 C A 4: 141,805,472 D226E probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tpgs1 A G 10: 79,675,759 D245G probably benign Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Gm5145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:Gm5145 APN 17 20570440 missense probably damaging 1.00
IGL02587:Gm5145 APN 17 20571190 missense probably damaging 1.00
R3159:Gm5145 UTSW 17 20570893 missense probably benign 0.00
R3885:Gm5145 UTSW 17 20571010 missense probably benign 0.30
R4151:Gm5145 UTSW 17 20571098 missense probably damaging 1.00
R4583:Gm5145 UTSW 17 20570453 missense probably benign 0.02
R4798:Gm5145 UTSW 17 20570548 missense probably damaging 1.00
R7147:Gm5145 UTSW 17 20571061 missense probably damaging 1.00
R7297:Gm5145 UTSW 17 20570731 missense probably benign 0.00
R7627:Gm5145 UTSW 17 20570392 nonsense probably null
R7670:Gm5145 UTSW 17 20570384 missense probably benign 0.09
R7897:Gm5145 UTSW 17 20570705 missense probably benign
R7901:Gm5145 UTSW 17 20570638 missense possibly damaging 0.86
R8336:Gm5145 UTSW 17 20570425 missense probably damaging 1.00
Z1177:Gm5145 UTSW 17 20571052 missense probably damaging 1.00
Posted On2015-04-16