Incidental Mutation 'IGL02696:D930048N14Rik'
ID 303915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene Name RIKEN cDNA D930048N14 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02696
Quality Score
Status
Chromosome 11
Chromosomal Location 51541781-51548508 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 51544821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001080] [ENSMUST00000064493] [ENSMUST00000117859] [ENSMUST00000142721] [ENSMUST00000156835]
AlphaFold A2AA67
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: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in D930048N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:D930048N14Rik APN 11 51,544,610 (GRCm39) unclassified probably benign
IGL01347:D930048N14Rik APN 11 51,545,615 (GRCm39) unclassified probably benign
IGL01419:D930048N14Rik APN 11 51,545,603 (GRCm39) unclassified probably benign
R0513:D930048N14Rik UTSW 11 51,545,755 (GRCm39) unclassified probably benign
R1465:D930048N14Rik UTSW 11 51,545,740 (GRCm39) unclassified probably benign
R1465:D930048N14Rik UTSW 11 51,545,740 (GRCm39) unclassified probably benign
R1649:D930048N14Rik UTSW 11 51,545,663 (GRCm39) unclassified probably benign
R1852:D930048N14Rik UTSW 11 51,544,692 (GRCm39) unclassified probably benign
R3421:D930048N14Rik UTSW 11 51,545,785 (GRCm39) makesense probably null
R3422:D930048N14Rik UTSW 11 51,545,785 (GRCm39) makesense probably null
R4210:D930048N14Rik UTSW 11 51,545,632 (GRCm39) unclassified probably benign
R5701:D930048N14Rik UTSW 11 51,544,556 (GRCm39) splice site probably null
R6656:D930048N14Rik UTSW 11 51,544,576 (GRCm39) unclassified probably benign
R8431:D930048N14Rik UTSW 11 51,541,946 (GRCm39) frame shift probably null
R8505:D930048N14Rik UTSW 11 51,541,946 (GRCm39) frame shift probably null
R8758:D930048N14Rik UTSW 11 51,544,568 (GRCm39) missense unknown
R9061:D930048N14Rik UTSW 11 51,545,734 (GRCm39) missense unknown
R9164:D930048N14Rik UTSW 11 51,545,609 (GRCm39) missense unknown
Posted On 2015-04-16