Incidental Mutation 'IGL02359:Gm17018'
ID290401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm17018
Ensembl Gene ENSMUSG00000041035
Gene Namepredicted gene 17018
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.391) question?
Stock #IGL02359
Quality Score
Status
Chromosome19
Chromosomal Location45560615-45579763 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45577054 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 156 (A156S)
Ref Sequence ENSEMBL: ENSMUSP00000045683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046869] [ENSMUST00000047057] [ENSMUST00000160003] [ENSMUST00000160018] [ENSMUST00000160438] [ENSMUST00000162433] [ENSMUST00000162879]
Predicted Effect probably benign
Transcript: ENSMUST00000046869
SMART Domains Protein: ENSMUSP00000036505
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
FBOX 29 69 1.47e-2 SMART
WD40 150 187 3.45e-1 SMART
WD40 189 226 2.24e-2 SMART
WD40 232 274 8.91e-1 SMART
WD40 277 318 5.52e0 SMART
WD40 323 363 1.67e-1 SMART
Blast:WD40 366 406 1e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000047057
AA Change: A156S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035
AA Change: A156S

DomainStartEndE-ValueType
Pfam:DPCD 6 195 4.5e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160003
SMART Domains Protein: ENSMUSP00000124604
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-20 BLAST
SCOP:d1fwxa2 8 62 4e-7 SMART
Blast:WD40 39 79 1e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160018
SMART Domains Protein: ENSMUSP00000125641
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 8e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160438
SMART Domains Protein: ENSMUSP00000125136
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
WD40 52 93 5.52e0 SMART
WD40 98 138 1.67e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161373
Predicted Effect probably benign
Transcript: ENSMUST00000162433
SMART Domains Protein: ENSMUSP00000124998
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 5e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 109 3e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162879
SMART Domains Protein: ENSMUSP00000124675
Gene: ENSMUSG00000040913

DomainStartEndE-ValueType
Blast:WD40 1 21 4e-7 BLAST
WD40 26 66 1.67e-1 SMART
Blast:WD40 69 102 8e-9 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cep55 T A 19: 38,069,868 I303N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Egflam T C 15: 7,234,225 N748S probably benign Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Gm17018
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Gm17018 APN 19 45577030 missense probably benign
IGL02352:Gm17018 APN 19 45577054 missense probably benign 0.01
R0308:Gm17018 UTSW 19 45577006 missense probably damaging 0.99
R6195:Gm17018 UTSW 19 45577019 missense probably damaging 1.00
R7254:Gm17018 UTSW 19 45577034 missense probably benign 0.03
R7348:Gm17018 UTSW 19 45572466 missense probably damaging 1.00
Posted On2015-04-16