Incidental Mutation 'R8327:6330409D20Rik'
ID 644142
Institutional Source Beutler Lab
Gene Symbol 6330409D20Rik
Ensembl Gene ENSMUSG00000009551
Gene Name RIKEN cDNA 6330409D20 gene
Synonyms
MMRRC Submission 067858-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8327 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32622632-32631028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32627623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 111 (Q111L)
Ref Sequence ENSEMBL: ENSMUSP00000009695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009695] [ENSMUST00000074248] [ENSMUST00000113242]
AlphaFold A2AK85
Predicted Effect unknown
Transcript: ENSMUST00000009695
AA Change: Q111L
SMART Domains Protein: ENSMUSP00000009695
Gene: ENSMUSG00000009551
AA Change: Q111L

DomainStartEndE-ValueType
low complexity region 73 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074248
SMART Domains Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 11 18 N/A INTRINSIC
low complexity region 22 43 N/A INTRINSIC
low complexity region 86 98 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
low complexity region 190 207 N/A INTRINSIC
SH2 213 301 7.8e-21 SMART
low complexity region 333 348 N/A INTRINSIC
low complexity region 400 415 N/A INTRINSIC
low complexity region 422 436 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
RasGEF 576 849 8.18e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113242
SMART Domains Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013

DomainStartEndE-ValueType
low complexity region 38 55 N/A INTRINSIC
SH2 61 149 7.8e-21 SMART
low complexity region 181 196 N/A INTRINSIC
low complexity region 248 263 N/A INTRINSIC
low complexity region 270 284 N/A INTRINSIC
low complexity region 322 335 N/A INTRINSIC
RasGEF 424 697 8.18e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,685 (GRCm39) D843V possibly damaging Het
Abcc5 C A 16: 20,241,068 (GRCm39) R39L probably benign Het
Acbd3 C A 1: 180,566,158 (GRCm39) Q284K probably damaging Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Apc2 T G 10: 80,137,764 (GRCm39) D68E probably damaging Het
Apob A T 12: 8,051,015 (GRCm39) I1093F possibly damaging Het
Arid2 T A 15: 96,260,485 (GRCm39) D411E probably damaging Het
Astn1 T A 1: 158,436,850 (GRCm39) Y811N probably damaging Het
Calhm5 A C 10: 33,972,064 (GRCm39) F124V probably damaging Het
Ccdc187 T C 2: 26,170,630 (GRCm39) H616R probably benign Het
Ccdc198 C T 14: 49,470,356 (GRCm39) G197S possibly damaging Het
Clca4b T C 3: 144,627,762 (GRCm39) Y403C possibly damaging Het
Dagla C T 19: 10,228,451 (GRCm39) V656I probably benign Het
Dguok A C 6: 83,464,061 (GRCm39) W166G probably damaging Het
Dlg5 G A 14: 24,196,388 (GRCm39) A1603V probably damaging Het
Fanca G A 8: 124,039,984 (GRCm39) Q138* probably null Het
Fbxl19 T A 7: 127,347,520 (GRCm39) C25* probably null Het
Gm49383 C A 12: 69,243,643 (GRCm39) E79* probably null Het
Lcor C T 19: 41,570,996 (GRCm39) S63L probably damaging Het
Lrp2 T C 2: 69,322,268 (GRCm39) Y1887C probably damaging Het
Mast3 T C 8: 71,232,062 (GRCm39) D1305G probably damaging Het
Mreg C A 1: 72,203,257 (GRCm39) R107L possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Nxpe2 C A 9: 48,231,059 (GRCm39) V437L probably benign Het
Or2t49 T C 11: 58,392,942 (GRCm39) M153V probably benign Het
Or51s1 A T 7: 102,558,926 (GRCm39) I40N probably damaging Het
Or8c13 T C 9: 38,091,186 (GRCm39) E311G possibly damaging Het
Pcdhb5 A C 18: 37,453,953 (GRCm39) K111T probably benign Het
Pi4kb A G 3: 94,906,192 (GRCm39) I580V probably benign Het
Plaat3 T C 19: 7,556,514 (GRCm39) L105P probably benign Het
Rbm15b A G 9: 106,761,646 (GRCm39) S841P probably benign Het
Reep2 A G 18: 34,975,566 (GRCm39) N31S probably damaging Het
Scmh1 C T 4: 120,379,699 (GRCm39) H505Y probably benign Het
Setd1a T A 7: 127,390,669 (GRCm39) L1115H unknown Het
Slc26a3 A G 12: 31,516,430 (GRCm39) D596G possibly damaging Het
Smg5 G T 3: 88,252,714 (GRCm39) A167S probably damaging Het
Supv3l1 T C 10: 62,277,004 (GRCm39) T255A probably damaging Het
Synrg G A 11: 83,899,731 (GRCm39) A568T probably benign Het
Tmem132a G T 19: 10,836,311 (GRCm39) P740T probably benign Het
Tmem181a T C 17: 6,351,680 (GRCm39) L353P probably damaging Het
Tubgcp3 T C 8: 12,704,343 (GRCm39) E242G probably benign Het
Vmn2r77 A T 7: 86,450,680 (GRCm39) T189S probably benign Het
Zfp638 T G 6: 83,905,679 (GRCm39) L44W probably damaging Het
Zfp715 G A 7: 42,947,482 (GRCm39) T826I possibly damaging Het
Zfp865 G A 7: 5,034,058 (GRCm39) S681N probably benign Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in 6330409D20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02073:6330409D20Rik APN 2 32,630,698 (GRCm39) intron probably benign
R1900:6330409D20Rik UTSW 2 32,630,559 (GRCm39) intron probably benign
R5196:6330409D20Rik UTSW 2 32,630,552 (GRCm39) intron probably benign
R6579:6330409D20Rik UTSW 2 32,630,663 (GRCm39) intron probably benign
R7151:6330409D20Rik UTSW 2 32,630,618 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCATCCCGAGTGCTTTCAG -3'
(R):5'- CTCATTATGGTGGCCACTGC -3'

Sequencing Primer
(F):5'- TTCAGACAACTCCATTAGGCAGTGG -3'
(R):5'- CCACTGCAGGGGGACAC -3'
Posted On 2020-09-02