Incidental Mutation 'R6656:D930048N14Rik'
ID 526632
Institutional Source Beutler Lab
Gene Symbol D930048N14Rik
Ensembl Gene ENSMUSG00000052563
Gene Name RIKEN cDNA D930048N14 gene
Synonyms
MMRRC Submission 044777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6656 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 51541781-51548508 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 51544576 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: D82E
SMART Domains Protein: ENSMUSP00000069562
Gene: ENSMUSG00000052563
AA Change: D82E

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000117859
AA Change: D82E
SMART Domains Protein: ENSMUSP00000113687
Gene: ENSMUSG00000052563
AA Change: D82E

DomainStartEndE-ValueType
low complexity region 35 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142721
Predicted Effect probably benign
Transcript: ENSMUST00000156835
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.8%
Validation Efficiency 97% (35/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,581,078 (GRCm39) N1708S probably benign Het
Ahnak2 C T 12: 112,748,991 (GRCm39) M285I probably benign Het
Angptl1 A T 1: 156,684,806 (GRCm39) D325V probably damaging Het
Anln A T 9: 22,262,298 (GRCm39) V931E probably damaging Het
Ascc3 C T 10: 50,526,021 (GRCm39) R578* probably null Het
B3galnt2 C T 13: 14,150,161 (GRCm39) A168V probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cd22 T C 7: 30,577,182 (GRCm39) I42V probably benign Het
Cyp2b19 C T 7: 26,466,280 (GRCm39) T361I probably benign Het
Ehf T C 2: 103,113,928 (GRCm39) N23S probably damaging Het
Eif2ak3 T A 6: 70,860,699 (GRCm39) I425N probably damaging Het
Fbxo4 C T 15: 4,005,305 (GRCm39) V192M probably damaging Het
Gm21190 T C 5: 15,730,849 (GRCm39) Q169R possibly damaging Het
Gngt1 A G 6: 3,994,246 (GRCm39) D8G possibly damaging Het
Ift140 T C 17: 25,251,147 (GRCm39) L31P probably damaging Het
Keg1 C T 19: 12,686,994 (GRCm39) Q8* probably null Het
Lama3 T A 18: 12,682,283 (GRCm39) M1083K possibly damaging Het
Lrp1b A T 2: 40,527,876 (GRCm39) Y68* probably null Het
Lyz3 A G 10: 117,071,534 (GRCm39) V115A probably benign Het
Mctp1 A T 13: 77,178,055 (GRCm39) K947N probably damaging Het
Muc5ac A G 7: 141,357,065 (GRCm39) Y1113C probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Npas2 T G 1: 39,401,029 (GRCm39) S798A unknown Het
Or13a21 G T 7: 139,999,517 (GRCm39) H56Q probably damaging Het
Orc2 A G 1: 58,532,818 (GRCm39) probably null Het
Parpbp T C 10: 87,946,175 (GRCm39) T415A probably benign Het
Pcdha3 T C 18: 37,080,875 (GRCm39) V539A probably benign Het
Piwil4 T C 9: 14,621,230 (GRCm39) E601G probably damaging Het
Pramel51 A T 12: 88,142,763 (GRCm39) L285Q possibly damaging Het
Ptpn3 T A 4: 57,205,905 (GRCm39) I696F probably damaging Het
Sec63 C T 10: 42,692,379 (GRCm39) Q617* probably null Het
Sgip1 C A 4: 102,762,765 (GRCm39) probably benign Het
Sirpd T C 3: 15,385,558 (GRCm39) T115A probably damaging Het
Tktl2 T C 8: 66,965,381 (GRCm39) V313A probably benign Het
Tmem63b C A 17: 45,978,634 (GRCm39) R325L probably benign Het
Ttn C T 2: 76,539,700 (GRCm39) G34429R 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
IGL02696:D930048N14Rik APN 11 51,544,821 (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
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
Predicted Primers PCR Primer
(F):5'- TTGCCTACACGTATGCCTGG -3'
(R):5'- TTGCAAACATAGAAGGGGATCC -3'

Sequencing Primer
(F):5'- GTAAGCAGTGTTCCTAACCACTGAG -3'
(R):5'- CAAACATAGAAGGGGATCCAGGAAG -3'
Posted On 2018-07-23