Incidental Mutation 'IGL02424:A930011G23Rik'
ID 292814
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 # IGL02424
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,880,466 (GRCm39) probably benign Het
Abl1 G A 2: 31,691,144 (GRCm39) V888I probably benign Het
Adcy9 G T 16: 4,106,461 (GRCm39) N884K probably damaging Het
Alyref T C 11: 120,486,133 (GRCm39) N176D probably benign Het
Amtn T C 5: 88,529,456 (GRCm39) probably benign Het
Baz1b T C 5: 135,246,833 (GRCm39) Y761H probably damaging Het
Cckar T A 5: 53,863,770 (GRCm39) T64S possibly damaging Het
Csmd1 A G 8: 16,142,340 (GRCm39) F1521S probably benign Het
Cyp11b1 T C 15: 74,711,085 (GRCm39) T198A probably benign Het
Def8 G T 8: 124,186,387 (GRCm39) L399F possibly damaging Het
Epha7 A T 4: 28,948,790 (GRCm39) probably benign Het
Ets1 T A 9: 32,665,589 (GRCm39) Y181* probably null Het
Fas A T 19: 34,304,434 (GRCm39) M232L probably damaging Het
Fkbp10 T A 11: 100,306,782 (GRCm39) V37E probably damaging Het
Galnt3 A G 2: 65,926,132 (GRCm39) probably null Het
Gdap1 T C 1: 17,231,402 (GRCm39) V249A probably damaging Het
Gm5356 T A 8: 89,913,594 (GRCm39) noncoding transcript Het
Gm7732 A G 17: 21,349,709 (GRCm39) noncoding transcript Het
Gpr3 G T 4: 132,938,405 (GRCm39) A89E probably damaging Het
Kat2a A G 11: 100,601,973 (GRCm39) probably null Het
Kit T G 5: 75,799,766 (GRCm39) D499E probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Med12l T C 3: 59,000,143 (GRCm39) L666P probably benign Het
Mmp2 T G 8: 93,562,635 (GRCm39) C291G probably damaging Het
Neb A G 2: 52,154,203 (GRCm39) Y2303H probably damaging Het
Or14a259 C A 7: 86,012,688 (GRCm39) V286L probably benign Het
Or1d2 T A 11: 74,256,299 (GRCm39) M268K probably benign Het
Or1o2 T C 17: 37,543,263 (GRCm39) probably benign Het
Pde1b T A 15: 103,436,646 (GRCm39) probably benign Het
Prl7a2 A C 13: 27,851,953 (GRCm39) C9G probably null Het
Rabl6 A G 2: 25,477,469 (GRCm39) V327A probably benign Het
Robo2 T A 16: 73,770,189 (GRCm39) I516F possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc35a3 G A 3: 116,488,267 (GRCm39) T140I possibly damaging Het
Slc38a7 A G 8: 96,568,200 (GRCm39) V395A probably damaging Het
Stag3 T A 5: 138,280,247 (GRCm39) C37* probably null Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Strn A G 17: 78,991,780 (GRCm39) S180P probably damaging Het
Sulf1 A G 1: 12,867,064 (GRCm39) T83A probably benign Het
Vmn1r69 T C 7: 10,314,585 (GRCm39) I49V probably benign Het
Vrk2 G A 11: 26,426,564 (GRCm39) P387L probably benign Het
Xdh A T 17: 74,233,565 (GRCm39) M183K probably benign 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 99,377,236 (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