Incidental Mutation 'IGL02421:A930011G23Rik'
ID 292658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A930011G23Rik
Ensembl Gene ENSMUSG00000089809
Gene Name RIKEN cDNA A930011G23 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02421
Quality Score
Status
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99377241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 402 (P402L)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect probably damaging
Transcript: ENSMUST00000031276
AA Change: P316L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: P316L

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166484
AA Change: P274L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: P274L

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 damaging
Transcript: ENSMUST00000168092
AA Change: P315L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: P315L

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209346
AA Change: P402L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,672 (GRCm39) F117S probably damaging Het
Acacb A G 5: 114,361,939 (GRCm39) T1394A probably benign Het
Adam19 A G 11: 46,028,380 (GRCm39) N671S probably damaging Het
Akap13 A T 7: 75,367,554 (GRCm39) N1815I possibly damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Ap1g2 G A 14: 55,339,859 (GRCm39) A440V probably damaging Het
Bmt2 G T 6: 13,628,841 (GRCm39) Q281K probably damaging Het
Celsr3 T C 9: 108,717,662 (GRCm39) F2243L probably damaging Het
Cenpb G A 2: 131,021,601 (GRCm39) R66C probably damaging Het
Chl1 A T 6: 103,694,541 (GRCm39) H1121L probably damaging Het
Cpb1 T C 3: 20,306,148 (GRCm39) Y344C probably damaging Het
Cspg5 T A 9: 110,076,460 (GRCm39) probably benign Het
Dnah11 T C 12: 118,150,637 (GRCm39) N374D probably damaging Het
Dnah3 A G 7: 119,550,215 (GRCm39) V3368A possibly damaging Het
Eml4 T C 17: 83,785,321 (GRCm39) S829P probably benign Het
Got2-ps1 T C 5: 138,362,811 (GRCm39) noncoding transcript Het
Hal T C 10: 93,339,335 (GRCm39) C475R probably damaging Het
Mapkbp1 C T 2: 119,850,136 (GRCm39) P806S possibly damaging Het
Mmrn1 A T 6: 60,921,806 (GRCm39) T88S probably benign Het
Napsa A G 7: 44,234,479 (GRCm39) H237R probably damaging Het
Opn5 C T 17: 42,907,446 (GRCm39) probably benign Het
Or1d2 T C 11: 74,256,017 (GRCm39) I174T probably damaging Het
Or4c110 T C 2: 88,831,688 (GRCm39) probably null Het
Or51f2 T C 7: 102,526,966 (GRCm39) I213T probably damaging Het
Or56b2 A G 7: 104,337,740 (GRCm39) N173D probably benign Het
Pira12 T C 7: 3,899,994 (GRCm39) N203D possibly damaging Het
Polb C T 8: 23,130,389 (GRCm39) G179D probably damaging Het
Primpol G T 8: 47,060,830 (GRCm39) probably benign Het
Prom2 T A 2: 127,373,802 (GRCm39) probably null Het
Psmb10 A G 8: 106,664,124 (GRCm39) probably null Het
Ranbp2 T G 10: 58,316,376 (GRCm39) S2365R probably damaging Het
Sgce G A 6: 4,694,187 (GRCm39) probably benign Het
Slc25a34 A G 4: 141,348,753 (GRCm39) V237A probably benign Het
Slc39a2 A T 14: 52,131,329 (GRCm39) T25S probably benign Het
Smarca4 T C 9: 21,550,535 (GRCm39) C423R probably damaging Het
Stt3b G A 9: 115,080,920 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,257,327 (GRCm39) I397F probably damaging Het
Tie1 A G 4: 118,343,591 (GRCm39) V117A probably damaging Het
Tmc3 T C 7: 83,271,952 (GRCm39) F1035L probably benign Het
Trhde T A 10: 114,248,366 (GRCm39) K944N probably damaging Het
Vmn1r54 G A 6: 90,246,133 (GRCm39) A16T probably benign Het
Washc4 T A 10: 83,415,414 (GRCm39) N801K probably damaging Het
Xylt2 A G 11: 94,558,588 (GRCm39) Y523H possibly damaging Het
Znfx1 T C 2: 166,902,000 (GRCm39) R5G 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 99,377,236 (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
R4565:A930011G23Rik UTSW 5 99,375,806 (GRCm39) intron probably benign
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
Posted On 2015-04-16