Incidental Mutation 'R8691:3110082J24Rik'
ID 668361
Institutional Source Beutler Lab
Gene Symbol 3110082J24Rik
Ensembl Gene ENSMUSG00000086815
Gene Name RIKEN cDNA 3110082J24 gene
Synonyms
MMRRC Submission 068545-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.041) question?
Stock # R8691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 30308582-30311084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30310287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 24 (A24E)
Ref Sequence ENSEMBL: ENSMUSP00000142756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000127749] [ENSMUST00000199573]
AlphaFold F6Z6Z2
Predicted Effect probably benign
Transcript: ENSMUST00000058045
SMART Domains Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576

DomainStartEndE-ValueType
Pfam:CABIT 29 337 1.2e-77 PFAM
low complexity region 379 405 N/A INTRINSIC
low complexity region 464 486 N/A INTRINSIC
low complexity region 524 534 N/A INTRINSIC
low complexity region 538 553 N/A INTRINSIC
low complexity region 569 588 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
low complexity region 686 696 N/A INTRINSIC
PDB:2DKZ|A 794 878 3e-30 PDB
Blast:SAM 812 879 6e-35 BLAST
SCOP:d1kw4a_ 816 877 1e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000127749
AA Change: A24E
SMART Domains Protein: ENSMUSP00000131958
Gene: ENSMUSG00000086815
AA Change: A24E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 80 96 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000199573
AA Change: A24E
SMART Domains Protein: ENSMUSP00000142756
Gene: ENSMUSG00000086815
AA Change: A24E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 80 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A G 11: 69,781,003 (GRCm39) L117P probably damaging Het
Actl6b G A 5: 137,565,585 (GRCm39) G394S probably damaging Het
Actr3b G T 5: 26,030,202 (GRCm39) V177F possibly damaging Het
Adamts6 A G 13: 104,450,839 (GRCm39) T341A probably benign Het
Agbl4 G T 4: 111,520,156 (GRCm39) V474F probably benign Het
Atosa A T 9: 74,917,335 (GRCm39) T652S probably benign Het
Bach1 T C 16: 87,516,517 (GRCm39) S353P probably benign Het
C1qtnf9 G A 14: 61,017,141 (GRCm39) D224N probably damaging Het
Camkmt A T 17: 85,421,260 (GRCm39) N121Y probably damaging Het
Card6 A T 15: 5,129,078 (GRCm39) Y773N possibly damaging Het
Cbfa2t2 C A 2: 154,342,403 (GRCm39) P40T possibly damaging Het
Colec10 A C 15: 54,298,420 (GRCm39) E60D probably benign Het
Cspg4 T C 9: 56,800,280 (GRCm39) V1647A probably benign Het
Cyp2d34 A G 15: 82,502,471 (GRCm39) F222L probably benign Het
Dennd1b A T 1: 138,969,774 (GRCm39) I97F possibly damaging Het
Deptor A C 15: 55,083,596 (GRCm39) D388A possibly damaging Het
Dhx40 T C 11: 86,690,419 (GRCm39) K201E possibly damaging Het
Dnah6 G A 6: 73,145,850 (GRCm39) R854C probably damaging Het
Dock9 T C 14: 121,877,517 (GRCm39) I409V possibly damaging Het
Eif1ad16 T G 12: 87,985,278 (GRCm39) K88N probably damaging Het
Esp31 G T 17: 38,955,592 (GRCm39) L78F possibly damaging Het
Fam98c A T 7: 28,852,889 (GRCm39) V48E probably damaging Het
Fcgbpl1 A T 7: 27,853,264 (GRCm39) E1517V possibly damaging Het
Fgfr1 A T 8: 26,052,253 (GRCm39) D193V possibly damaging Het
Furin C T 7: 80,041,775 (GRCm39) probably benign Het
Gm17078 A T 14: 51,848,693 (GRCm39) F15I probably damaging Het
Grid2 G T 6: 63,480,321 (GRCm39) R45L probably damaging Het
Hecw2 A G 1: 53,904,223 (GRCm39) V1175A probably benign Het
Hspa1b T C 17: 35,176,072 (GRCm39) I638V possibly damaging Het
Ighv6-7 A G 12: 114,419,304 (GRCm39) V100A probably benign Het
Itch G T 2: 155,052,478 (GRCm39) E693* probably null Het
Ivl G A 3: 92,478,823 (GRCm39) S414L unknown Het
Kif5b T A 18: 6,225,787 (GRCm39) N160I probably benign Het
Klhl5 A G 5: 65,306,881 (GRCm39) probably benign Het
Lpin1 C T 12: 16,623,660 (GRCm39) probably benign Het
Malsu1 C A 6: 49,052,171 (GRCm39) H130Q probably benign Het
Naip2 A C 13: 100,297,676 (GRCm39) L787V probably damaging Het
Nynrin C T 14: 56,110,106 (GRCm39) R1738W probably damaging Het
Or11g27 A G 14: 50,770,910 (GRCm39) T14A probably benign Het
Or4e1 A T 14: 52,701,358 (GRCm39) I36N possibly damaging Het
Or51d1 C T 7: 102,347,777 (GRCm39) Q111* probably null Het
Or7e176 T A 9: 20,171,747 (GRCm39) S204T probably benign Het
Pclo A G 5: 14,571,706 (GRCm39) T364A unknown Het
Phlda2 A C 7: 143,056,206 (GRCm39) S8A probably benign Het
Pou3f1 G A 4: 124,551,549 (GRCm39) G17E unknown Het
Ppfibp2 A G 7: 107,346,785 (GRCm39) D899G probably damaging Het
Pskh1 T C 8: 106,639,833 (GRCm39) V171A probably damaging Het
Rictor A G 15: 6,816,513 (GRCm39) T1262A probably damaging Het
Rnf41 T C 10: 128,274,077 (GRCm39) V243A probably benign Het
Slc9c1 T A 16: 45,427,182 (GRCm39) N1162K probably benign Het
Spef2 A T 15: 9,602,005 (GRCm39) L1419* probably null Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tnc A G 4: 63,880,313 (GRCm39) C1954R probably damaging Het
Ttll11 T A 2: 35,674,161 (GRCm39) I622F probably damaging Het
Utp25 T C 1: 192,796,110 (GRCm39) E673G probably benign Het
Vmn2r104 A G 17: 20,262,110 (GRCm39) I340T probably damaging Het
Vmn2r110 G T 17: 20,803,404 (GRCm39) D390E probably benign Het
Other mutations in 3110082J24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4518:3110082J24Rik UTSW 5 30,311,006 (GRCm39) splice site probably null
R4783:3110082J24Rik UTSW 5 30,310,198 (GRCm39) nonsense probably null
Z1176:3110082J24Rik UTSW 5 30,310,065 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GATGTGAGCAACGCAGCAATC -3'
(R):5'- AAGCCCCGACTTTTCGCATC -3'

Sequencing Primer
(F):5'- AGCAATCCTGAGTCCGGAC -3'
(R):5'- GACTTTTCGCATCCTCCGC -3'
Posted On 2021-04-30