Incidental Mutation 'IGL02350:Gm5145'
ID 289725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5145
Ensembl Gene ENSMUSG00000071273
Gene Name predicted pseudogene 5145
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02350
Quality Score
Status
Chromosome 17
Chromosomal Location 20790631-20791460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20790702 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Gm5145
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02357:Gm5145 APN 17 20,790,702 (GRCm39) missense probably damaging 1.00
IGL02587:Gm5145 APN 17 20,791,452 (GRCm39) missense probably damaging 1.00
R3159:Gm5145 UTSW 17 20,791,155 (GRCm39) missense probably benign 0.00
R3885:Gm5145 UTSW 17 20,791,272 (GRCm39) missense probably benign 0.30
R4151:Gm5145 UTSW 17 20,791,360 (GRCm39) missense probably damaging 1.00
R4583:Gm5145 UTSW 17 20,790,715 (GRCm39) missense probably benign 0.02
R4798:Gm5145 UTSW 17 20,790,810 (GRCm39) missense probably damaging 1.00
R7147:Gm5145 UTSW 17 20,791,323 (GRCm39) missense probably damaging 1.00
R7297:Gm5145 UTSW 17 20,790,993 (GRCm39) missense probably benign 0.00
R7627:Gm5145 UTSW 17 20,790,654 (GRCm39) nonsense probably null
R7670:Gm5145 UTSW 17 20,790,646 (GRCm39) missense probably benign 0.09
R7897:Gm5145 UTSW 17 20,790,967 (GRCm39) missense probably benign
R7901:Gm5145 UTSW 17 20,790,900 (GRCm39) missense possibly damaging 0.86
R8336:Gm5145 UTSW 17 20,790,687 (GRCm39) missense probably damaging 1.00
R8492:Gm5145 UTSW 17 20,790,681 (GRCm39) missense probably damaging 1.00
R9030:Gm5145 UTSW 17 20,791,270 (GRCm39) missense probably benign 0.41
R9053:Gm5145 UTSW 17 20,791,194 (GRCm39) missense probably damaging 1.00
R9362:Gm5145 UTSW 17 20,791,342 (GRCm39) missense probably damaging 0.99
Z1177:Gm5145 UTSW 17 20,791,314 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16