Incidental Mutation 'IGL02696:D930048N14Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene NameRIKEN cDNA D930048N14 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02696
Quality Score
Chromosomal Location51650954-51657681 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 51653994 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]
Predicted Effect probably benign
Transcript: ENSMUST00000001080
SMART Domains Protein: ENSMUSP00000001080
Gene: ENSMUSG00000001053

low complexity region 176 207 N/A INTRINSIC
low complexity region 232 249 N/A INTRINSIC
coiled coil region 295 334 N/A INTRINSIC
Pfam:Fez1 359 442 2.3e-21 PFAM
Pfam:Fez1 433 519 4e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000064493
AA Change: V124D
SMART Domains Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: V124D

low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117859
SMART Domains Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563

low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142721
Predicted Effect probably benign
Transcript: ENSMUST00000156835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably damaging Het
Other mutations in D930048N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:D930048N14Rik APN 11 51653783 unclassified probably benign
IGL01347:D930048N14Rik APN 11 51654788 unclassified probably benign
IGL01419:D930048N14Rik APN 11 51654776 unclassified probably benign
R0513:D930048N14Rik UTSW 11 51654928 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1465:D930048N14Rik UTSW 11 51654913 unclassified probably benign
R1649:D930048N14Rik UTSW 11 51654836 unclassified probably benign
R1852:D930048N14Rik UTSW 11 51653865 unclassified probably benign
R3421:D930048N14Rik UTSW 11 51654958 makesense probably null
R3422:D930048N14Rik UTSW 11 51654958 makesense probably null
R4210:D930048N14Rik UTSW 11 51654805 unclassified probably benign
R5701:D930048N14Rik UTSW 11 51653729 splice site probably null
R6656:D930048N14Rik UTSW 11 51653749 unclassified probably benign
Posted On2015-04-16