Incidental Mutation 'IGL03129:A930011G23Rik'
ID 410233
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 # IGL03129
Quality Score
Status
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99377238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 403 (V403A)
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: V317A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: V317A

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166484
AA Change: V275A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: V275A

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: V316A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: V316A

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209346
AA Change: V403A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,221,088 (GRCm39) L298P probably damaging Het
Akap6 A T 12: 53,187,089 (GRCm39) D1501V probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Col6a3 A G 1: 90,749,584 (GRCm39) Y417H probably damaging Het
Csmd1 A G 8: 16,011,521 (GRCm39) F2511L probably damaging Het
Dzip3 T C 16: 48,762,446 (GRCm39) M602V possibly damaging Het
Efna2 G A 10: 80,024,346 (GRCm39) probably null Het
Fzd8 T C 18: 9,214,270 (GRCm39) S451P probably damaging Het
Galntl6 A T 8: 58,880,750 (GRCm39) D134E probably damaging Het
Grid2 T C 6: 64,040,888 (GRCm39) S277P probably damaging Het
Lcn2 A G 2: 32,277,716 (GRCm39) V91A possibly damaging Het
Lrp1b G A 2: 41,202,478 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,866,696 (GRCm39) Y1015F probably benign Het
Mdn1 T A 4: 32,729,994 (GRCm39) C2779S possibly damaging Het
Nlrp10 A T 7: 108,524,118 (GRCm39) F454Y probably damaging Het
Obox5 T A 7: 15,492,684 (GRCm39) L213Q probably damaging Het
Or1o2 T A 17: 37,543,087 (GRCm39) Y58F probably damaging Het
Piezo2 T C 18: 63,248,043 (GRCm39) M486V probably benign Het
Plcg1 A C 2: 160,616,446 (GRCm39) probably null Het
Polr1b G A 2: 128,957,627 (GRCm39) V561I probably benign Het
Polr3c A T 3: 96,626,770 (GRCm39) probably benign Het
Prkg1 T A 19: 30,562,681 (GRCm39) K523* probably null Het
Prss3l T C 6: 41,420,432 (GRCm39) N98S probably benign Het
Sema3b T A 9: 107,476,995 (GRCm39) probably benign Het
Sp9 A G 2: 73,103,865 (GRCm39) T140A probably benign Het
Zfp507 T C 7: 35,493,631 (GRCm39) R471G 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
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 2016-08-02