Incidental Mutation 'R4565:A930011G23Rik'
ID 343283
Institutional Source Beutler Lab
Gene Symbol A930011G23Rik
Ensembl Gene ENSMUSG00000089809
Gene Name RIKEN cDNA A930011G23 gene
Synonyms
MMRRC Submission 041790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R4565 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 99375806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect probably benign
Transcript: ENSMUST00000031276
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166484
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809

DomainStartEndE-ValueType
Blast:RasGEFN 33 123 6e-50 BLAST
RasGEF 159 412 3.26e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166632
Predicted Effect probably benign
Transcript: ENSMUST00000168092
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209346
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Afg3l1 A T 8: 124,228,608 (GRCm39) K725* probably null Het
Alkbh1 T C 12: 87,478,236 (GRCm39) D225G probably damaging Het
Anxa2 A T 9: 69,397,019 (GRCm39) K241M probably damaging Het
Bptf G A 11: 106,963,836 (GRCm39) T1786M probably damaging Het
Cnst A G 1: 179,432,114 (GRCm39) E208G probably damaging Het
Dcdc2b T C 4: 129,504,778 (GRCm39) T118A probably benign Het
Dhx35 C A 2: 158,691,455 (GRCm39) A646E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnhd1 T A 7: 105,301,163 (GRCm39) D173E possibly damaging Het
Dpy19l1 A T 9: 24,343,684 (GRCm39) L487Q probably null Het
Gtse1 T G 15: 85,759,385 (GRCm39) V631G probably damaging Het
Haspin G A 11: 73,028,445 (GRCm39) L215F probably benign Het
Herc2 T C 7: 55,803,586 (GRCm39) V2207A possibly damaging Het
Jph1 A G 1: 17,074,426 (GRCm39) Y531H possibly damaging Het
Limk2 A G 11: 3,298,634 (GRCm39) I261T probably damaging Het
Oas3 A G 5: 120,909,104 (GRCm39) F281L probably damaging Het
Or2a25 A T 6: 42,888,472 (GRCm39) Q5L probably benign Het
Or7a40 C A 16: 16,491,557 (GRCm39) G96V probably damaging Het
Pcdhb17 A G 18: 37,619,523 (GRCm39) T438A probably benign Het
Pfdn5 T C 15: 102,235,220 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,680 (GRCm39) C158R possibly damaging Het
Rbmxl1 G A 8: 79,232,639 (GRCm39) P235S probably benign Het
Slc9b1 G T 3: 135,088,478 (GRCm39) V280F probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Trpm3 T C 19: 22,965,233 (GRCm39) I1576T probably benign Het
Trpm6 T A 19: 18,803,236 (GRCm39) V893D probably damaging Het
Ttc13 A T 8: 125,408,826 (GRCm39) N583K probably damaging Het
Zfp618 T C 4: 63,039,588 (GRCm39) C396R probably damaging Het
Other mutations in A930011G23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:A930011G23Rik APN 5 99,391,102 (GRCm39) splice site probably null
IGL00536:A930011G23Rik APN 5 99,370,242 (GRCm39) missense probably damaging 1.00
IGL00848:A930011G23Rik APN 5 99,370,237 (GRCm39) missense probably damaging 1.00
IGL01400:A930011G23Rik APN 5 99,390,960 (GRCm39) missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02427:A930011G23Rik APN 5 99,381,829 (GRCm39) missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02473:A930011G23Rik APN 5 99,370,854 (GRCm39) missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02609:A930011G23Rik APN 5 99,381,854 (GRCm39) splice site probably benign
IGL02735:A930011G23Rik APN 5 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02735:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02975:A930011G23Rik APN 5 99,381,784 (GRCm39) missense possibly damaging 0.81
IGL03129:A930011G23Rik APN 5 99,377,238 (GRCm39) missense probably damaging 0.98
IGL03139:A930011G23Rik APN 5 99,391,067 (GRCm39) missense probably benign 0.00
IGL03239:A930011G23Rik APN 5 99,381,835 (GRCm39) missense probably damaging 1.00
IGL03295:A930011G23Rik APN 5 99,390,915 (GRCm39) splice site probably benign
R0011:A930011G23Rik UTSW 5 99,380,213 (GRCm39) missense probably damaging 1.00
R0738:A930011G23Rik UTSW 5 99,388,812 (GRCm39) missense probably benign 0.08
R0840:A930011G23Rik UTSW 5 99,382,547 (GRCm39) missense probably benign 0.00
R1779:A930011G23Rik UTSW 5 99,370,897 (GRCm39) splice site probably benign
R1799:A930011G23Rik UTSW 5 99,382,435 (GRCm39) missense probably benign 0.01
R1992:A930011G23Rik UTSW 5 99,381,784 (GRCm39) missense possibly damaging 0.81
R2054:A930011G23Rik UTSW 5 99,375,914 (GRCm39) missense probably benign 0.01
R2157:A930011G23Rik UTSW 5 99,379,956 (GRCm39) missense probably damaging 0.99
R2184:A930011G23Rik UTSW 5 99,380,228 (GRCm39) missense possibly damaging 0.69
R4930:A930011G23Rik UTSW 5 99,370,263 (GRCm39) missense possibly damaging 0.81
R5065:A930011G23Rik UTSW 5 99,382,432 (GRCm39) missense probably benign 0.18
R5739:A930011G23Rik UTSW 5 99,369,289 (GRCm39) missense probably damaging 1.00
R5806:A930011G23Rik UTSW 5 99,388,731 (GRCm39) missense probably benign 0.05
R8228:A930011G23Rik UTSW 5 99,524,980 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTCACTGCCTGAAGTCCAAC -3'
(R):5'- CATGATCTGGGAAGTTGAGAGC -3'

Sequencing Primer
(F):5'- TGCCTGAAGTCCAACCAACAC -3'
(R):5'- AGAGCTGAATGGTTAATGATGTTCTC -3'
Posted On 2015-09-24