Incidental Mutation 'IGL02498:A930011G23Rik'
ID 295881
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 # IGL02498
Quality Score
Status
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99377236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 404 (S404P)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000031276
AA Change: S318P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: S318P

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166484
AA Change: S276P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: S276P

DomainStartEndE-ValueType
Blast:RasGEFN 33 123 6e-50 BLAST
RasGEF 159 412 3.26e-68 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166632
Predicted Effect possibly damaging
Transcript: ENSMUST00000168092
AA Change: S317P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: S317P

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209346
AA Change: S404P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,617,265 (GRCm39) probably null Het
Abcg8 T C 17: 84,990,693 (GRCm39) W12R probably benign Het
Ablim1 A T 19: 57,140,751 (GRCm39) C155* probably null Het
Adam33 A G 2: 130,895,157 (GRCm39) C658R probably damaging Het
Adamts2 A G 11: 50,664,135 (GRCm39) H357R possibly damaging Het
Adamts2 G T 11: 50,668,023 (GRCm39) K528N probably damaging Het
Arhgef12 G A 9: 42,893,339 (GRCm39) P955S probably benign Het
Atp2b2 T A 6: 113,770,815 (GRCm39) I365F probably damaging Het
AW112010 T C 19: 11,025,701 (GRCm39) noncoding transcript Het
AY358078 T C 14: 52,040,944 (GRCm39) S88P probably benign Het
Cdc42bpg T C 19: 6,372,823 (GRCm39) L1504S probably benign Het
Cracdl T C 1: 37,662,926 (GRCm39) T991A probably benign Het
Dgkg T A 16: 22,367,441 (GRCm39) H593L probably damaging Het
Gm10463 T C 5: 32,288,742 (GRCm39) probably benign Het
Grm1 A T 10: 10,595,723 (GRCm39) L635Q probably damaging Het
Herc4 T C 10: 63,109,244 (GRCm39) C160R probably benign Het
Hs6st1 G A 1: 36,142,821 (GRCm39) R252H probably damaging Het
Litaf A G 16: 10,784,423 (GRCm39) V29A possibly damaging Het
Lmo7 G A 14: 102,044,918 (GRCm39) V57I probably benign Het
Loxl4 A T 19: 42,593,412 (GRCm39) L253Q probably benign Het
Mon2 C T 10: 122,870,235 (GRCm39) V458I probably benign Het
Ncstn G T 1: 171,896,159 (GRCm39) F506L probably benign Het
Nedd8 T A 14: 55,901,273 (GRCm39) D21V probably damaging Het
Oas1c T C 5: 120,943,591 (GRCm39) T183A possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Phf2 A G 13: 48,958,715 (GRCm39) S936P unknown Het
Pkd1 T C 17: 24,804,753 (GRCm39) I3159T possibly damaging Het
Prrt3 C A 6: 113,474,788 (GRCm39) V145F possibly damaging Het
Prx T A 7: 27,217,497 (GRCm39) V666E probably damaging Het
Rapgef2 C T 3: 78,974,060 (GRCm39) V1577M probably damaging Het
Sesn3 T C 9: 14,217,564 (GRCm39) probably benign Het
Shoc2 T A 19: 54,016,207 (GRCm39) L407* probably null Het
Slc6a12 A G 6: 121,338,029 (GRCm39) M435V probably benign Het
Smarcc1 C T 9: 110,020,002 (GRCm39) T623I probably damaging Het
Snx14 A G 9: 88,289,517 (GRCm39) L245S probably damaging Het
Son T A 16: 91,453,713 (GRCm39) M820K probably damaging Het
Sorcs1 T C 19: 50,666,606 (GRCm39) T101A probably benign Het
Stoml2 C A 4: 43,031,045 (GRCm39) V37L probably benign Het
Syde2 T A 3: 145,704,444 (GRCm39) H465Q probably benign Het
Tmem164 T A X: 141,589,044 (GRCm39) V40D possibly damaging Het
Trim37 A G 11: 87,075,876 (GRCm39) E494G probably benign Het
Triobp A G 15: 78,845,243 (GRCm39) D195G probably benign Het
Unc79 G A 12: 103,137,837 (GRCm39) V2427M probably damaging Het
Usp27x T C X: 7,239,780 (GRCm39) probably benign Het
Vmn2r113 T A 17: 23,177,349 (GRCm39) V711D probably damaging Het
Zfp940 T C 7: 29,546,376 (GRCm39) T7A 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
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