Incidental Mutation 'IGL02696:D930048N14Rik'
ID303915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene NameRIKEN cDNA D930048N14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02696
Quality Score
Status
Chromosome11
Chromosomal Location51650954-51657681 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 51653994 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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