Incidental Mutation 'IGL02735:A930011G23Rik'
ID 305601
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 # IGL02735
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Cd55b A T 1: 130,316,413 (GRCm39) W379R probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Ptpre A T 7: 135,269,296 (GRCm39) Y246F probably damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Sprtn T A 8: 125,630,126 (GRCm39) V473E probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tal2 T A 4: 53,785,906 (GRCm39) I29N probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Ybey A T 10: 76,304,160 (GRCm39) I14N 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 99,377,236 (GRCm39) missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99,377,241 (GRCm39) missense probably damaging 1.00
IGL02609:A930011G23Rik APN 5 99,381,854 (GRCm39) splice site probably benign
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