Incidental Mutation 'R3929:E230025N22Rik'
ID 308659
Institutional Source Beutler Lab
Gene Symbol E230025N22Rik
Ensembl Gene ENSMUSG00000044719
Gene Name Riken cDNA E230025N22 gene
Synonyms EG240216
MMRRC Submission 040824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3929 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 36817976-36828978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36824625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
Ref Sequence ENSEMBL: ENSMUSP00000111346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115682]
AlphaFold G5E8S3
Predicted Effect probably damaging
Transcript: ENSMUST00000115682
AA Change: D112G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719
AA Change: D112G

DomainStartEndE-ValueType
Blast:KISc 1 105 2e-10 BLAST
SCOP:d1bg2__ 1 105 3e-9 SMART
low complexity region 120 130 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
coiled coil region 354 385 N/A INTRINSIC
coiled coil region 433 460 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 A C 3: 152,373,444 (GRCm39) L18R probably damaging Het
Atrx T C X: 104,923,523 (GRCm39) I157V possibly damaging Het
C9 T A 15: 6,496,939 (GRCm39) I212N probably benign Het
Cabin1 T C 10: 75,587,452 (GRCm39) probably null Het
Ccnf A G 17: 24,453,356 (GRCm39) V361A probably damaging Het
Ctps1 T A 4: 120,399,093 (GRCm39) H553L probably benign Het
Dmrta1 C T 4: 89,579,681 (GRCm39) Q214* probably null Het
Frat1 T C 19: 41,819,087 (GRCm39) C161R probably damaging Het
H1f8 A G 6: 115,925,757 (GRCm39) K185E probably benign Het
Itpr2 C A 6: 146,275,857 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,742 (GRCm39) D509G probably benign Het
Muc5ac T C 7: 141,356,629 (GRCm39) V1072A probably benign Het
Nav3 A G 10: 109,520,064 (GRCm39) Y2340H probably damaging Het
Or10ak9 T C 4: 118,726,179 (GRCm39) L66P probably damaging Het
Or2y17 A T 11: 49,231,820 (GRCm39) M154L probably benign Het
Or51a43 C T 7: 103,717,791 (GRCm39) C149Y probably benign Het
Or5be3 T A 2: 86,864,428 (GRCm39) I46F possibly damaging Het
Or6c2 G A 10: 129,362,100 (GRCm39) M1I probably null Het
Prdm10 T C 9: 31,258,432 (GRCm39) I619T probably damaging Het
Rp1 T C 1: 4,422,868 (GRCm39) T71A probably damaging Het
Rpusd4 A G 9: 35,183,876 (GRCm39) I202V probably benign Het
Sin3a A G 9: 57,025,421 (GRCm39) N1089S probably damaging Het
St6gal2 A G 17: 55,803,324 (GRCm39) D353G possibly damaging Het
Stap2 A C 17: 56,310,156 (GRCm39) F50V probably damaging Het
Stkld1 T A 2: 26,830,059 (GRCm39) probably null Het
Tars3 A G 7: 65,333,791 (GRCm39) probably null Het
Tbl1xr1 G C 3: 22,243,932 (GRCm39) D69H probably damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim61 A G 8: 65,465,969 (GRCm39) F431L probably benign Het
Trmo C T 4: 46,382,647 (GRCm39) G150S probably damaging Het
Vmn1r61 A G 7: 5,614,176 (GRCm39) I46T probably benign Het
Vmn2r19 T C 6: 123,292,587 (GRCm39) Y210H probably benign Het
Xrn1 T C 9: 95,870,926 (GRCm39) S584P possibly damaging Het
Other mutations in E230025N22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02328:E230025N22Rik APN 18 36,828,667 (GRCm39) missense probably damaging 1.00
IGL02721:E230025N22Rik APN 18 36,828,664 (GRCm39) missense probably damaging 1.00
R0092:E230025N22Rik UTSW 18 36,822,277 (GRCm39) missense probably damaging 1.00
R0538:E230025N22Rik UTSW 18 36,821,987 (GRCm39) missense probably benign
R1239:E230025N22Rik UTSW 18 36,818,528 (GRCm39) missense probably damaging 0.99
R1442:E230025N22Rik UTSW 18 36,824,462 (GRCm39) splice site probably null
R5679:E230025N22Rik UTSW 18 36,818,435 (GRCm39) missense possibly damaging 0.77
R5997:E230025N22Rik UTSW 18 36,822,161 (GRCm39) missense possibly damaging 0.94
R6394:E230025N22Rik UTSW 18 36,819,839 (GRCm39) missense probably damaging 1.00
R7570:E230025N22Rik UTSW 18 36,828,645 (GRCm39) missense probably benign 0.45
R7914:E230025N22Rik UTSW 18 36,828,605 (GRCm39) missense possibly damaging 0.77
R9025:E230025N22Rik UTSW 18 36,819,890 (GRCm39) missense probably damaging 1.00
R9093:E230025N22Rik UTSW 18 36,821,952 (GRCm39) missense possibly damaging 0.95
R9567:E230025N22Rik UTSW 18 36,820,336 (GRCm39) missense
Z1176:E230025N22Rik UTSW 18 36,828,877 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCAAGCTGAAACTTTCCGAAG -3'
(R):5'- GGCAAAAGTAACCTGAATGCC -3'

Sequencing Primer
(F):5'- CGAAGGACCCCACCCTC -3'
(R):5'- TGAACCTCCTGACATGGATACTGG -3'
Posted On 2015-04-17