Incidental Mutation 'RF019:3110021N24Rik'
ID 603729
Institutional Source Beutler Lab
Gene Symbol 3110021N24Rik
Ensembl Gene ENSMUSG00000094958
Gene Name RIKEN cDNA 3110021N24 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # RF019 (G1)
Quality Score 214.462
Status Not validated
Chromosome 4
Chromosomal Location 108576846-108639101 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGCGCGGCCGGG to AG at 108637827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106657] [ENSMUST00000106658] [ENSMUST00000178992]
AlphaFold J3QMN2
Predicted Effect probably benign
Transcript: ENSMUST00000106657
SMART Domains Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557

DomainStartEndE-ValueType
low complexity region 230 243 N/A INTRINSIC
low complexity region 471 487 N/A INTRINSIC
low complexity region 578 587 N/A INTRINSIC
Blast:FYVE 590 618 7e-6 BLAST
FYVE 663 731 2.38e-26 SMART
Pfam:SARA 745 783 1.3e-22 PFAM
Pfam:DUF3480 1020 1372 1e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106658
SMART Domains Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557

DomainStartEndE-ValueType
low complexity region 230 243 N/A INTRINSIC
low complexity region 471 487 N/A INTRINSIC
low complexity region 578 587 N/A INTRINSIC
Blast:FYVE 590 618 8e-6 BLAST
FYVE 663 731 2.38e-26 SMART
Pfam:DUF3480 960 1313 5.5e-189 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000178992
SMART Domains Protein: ENSMUSP00000136370
Gene: ENSMUSG00000094958

DomainStartEndE-ValueType
low complexity region 54 74 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 114 148 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 86% (36/42)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,784,429 (GRCm39) S43P probably benign Het
Ankrd11 A G 8: 123,623,373 (GRCm39) V294A probably damaging Het
Ciita T A 16: 10,324,611 (GRCm39) I181N probably damaging Het
Col6a1 T C 10: 76,547,449 (GRCm39) M675V unknown Het
Colec11 A G 12: 28,662,882 (GRCm39) V62A probably benign Het
Eif3i T C 4: 129,494,258 (GRCm39) T14A probably damaging Het
Filip1l A G 16: 57,391,004 (GRCm39) T531A probably benign Het
Fscb GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT 12: 64,519,370 (GRCm39) probably benign Het
Garre1 A G 7: 33,939,974 (GRCm39) F918L probably damaging Het
Gpr89 T C 3: 96,812,509 (GRCm39) I11V probably benign Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Hivep3 T C 4: 119,955,467 (GRCm39) V1261A probably benign Het
Itgad C A 7: 127,791,380 (GRCm39) H751N probably benign Het
Krtap28-10 CCACAGCCACAGCCA CCACAGCCACAGCCAACACAGCCACAGCCA 1: 83,019,990 (GRCm39) probably benign Het
L1td1 A G 4: 98,625,061 (GRCm39) K419E not run Het
Mast4 GGTGGTGGTGG GGTGGTGGTGGTGGTGG 13: 102,872,815 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,252,289 (GRCm39) W534R probably damaging Het
Myo9a T C 9: 59,829,055 (GRCm39) V2387A probably benign Het
Ncapg C A 5: 45,856,198 (GRCm39) P949Q probably benign Het
Nuggc T C 14: 65,885,713 (GRCm39) F796S probably damaging Het
Otol1 A T 3: 69,925,933 (GRCm39) E36V probably benign Het
Pkhd1l1 TT TTTTTTTTTAT 15: 44,421,903 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,203,423 (GRCm39) I1095T possibly damaging Het
Reep1 C CCGCG 6: 71,684,953 (GRCm39) probably null Het
Smarca2 GCAGCA GCAGCAACAGCA 19: 26,608,401 (GRCm39) probably benign Het
Tcf20 T C 15: 82,735,794 (GRCm39) I1886V probably benign Het
Txnrd1 T G 10: 82,720,934 (GRCm39) probably null Het
Unc5b A G 10: 60,618,962 (GRCm39) V60A probably damaging Het
Vmn1r45 A T 6: 89,910,091 (GRCm39) V293E probably damaging Het
Zfhx4 T A 3: 5,468,327 (GRCm39) D2853E probably benign Het
Zfp108 G T 7: 23,961,032 (GRCm39) R541L probably benign Het
Other mutations in 3110021N24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R9094:3110021N24Rik UTSW 4 108,637,744 (GRCm39) missense unknown
RF058:3110021N24Rik UTSW 4 108,637,826 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- AGCCCGATCTTCACGTACC -3'
(R):5'- AAAAGGTGCTGGGGTCTGAC -3'

Sequencing Primer
(F):5'- GATCTTCACGTACCCGGCC -3'
(R):5'- GTTCCCTGCCGCTCGTG -3'
Posted On 2019-12-04