Incidental Mutation 'IGL02375:1700021F07Rik'
ID291075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700021F07Rik
Ensembl Gene ENSMUSG00000027518
Gene NameRIKEN cDNA 1700021F07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02375
Quality Score
Status
Chromosome2
Chromosomal Location173522586-173528501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 173522703 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 14 (M14V)
Ref Sequence ENSEMBL: ENSMUSP00000029023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029023]
Predicted Effect probably benign
Transcript: ENSMUST00000029023
AA Change: M14V

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029023
Gene: ENSMUSG00000027518
AA Change: M14V

DomainStartEndE-ValueType
Pfam:LLC1 16 134 2.1e-51 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grhl2 T C 15: 37,291,577 V303A probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in 1700021F07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0376:1700021F07Rik UTSW 2 173528327 missense probably benign 0.00
R0925:1700021F07Rik UTSW 2 173526074 missense probably benign 0.01
R1102:1700021F07Rik UTSW 2 173522723 missense probably damaging 1.00
R1319:1700021F07Rik UTSW 2 173527923 missense probably damaging 0.98
R3430:1700021F07Rik UTSW 2 173528273 missense possibly damaging 0.60
R4006:1700021F07Rik UTSW 2 173526087 critical splice donor site probably null
R5663:1700021F07Rik UTSW 2 173527897 missense probably damaging 1.00
R6347:1700021F07Rik UTSW 2 173527915 missense possibly damaging 0.77
R6362:1700021F07Rik UTSW 2 173528174 splice site probably null
R6452:1700021F07Rik UTSW 2 173527907 missense probably benign 0.15
R6453:1700021F07Rik UTSW 2 173528259 missense probably benign 0.28
Posted On2015-04-16