Incidental Mutation 'IGL03139:A930011G23Rik'
ID 410653
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 # IGL03139
Quality Score
Status
Chromosome 5
Chromosomal Location 99445103-99876919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99391067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
AlphaFold Q8JZL7
Predicted Effect probably benign
Transcript: ENSMUST00000031276
AA Change: F11L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: F11L

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166484
AA Change: F11L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: F11L

DomainStartEndE-ValueType
Blast:RasGEFN 33 123 6e-50 BLAST
RasGEF 159 412 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168092
AA Change: F11L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: F11L

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209346
AA Change: F97L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,764,145 (GRCm39) Y928C probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Atxn7 T C 14: 14,052,994 (GRCm38) V144A probably damaging Het
Baiap2l2 T A 15: 79,155,753 (GRCm39) N107I probably damaging Het
Cd180 A G 13: 102,842,924 (GRCm39) K657E probably damaging Het
Cep192 T C 18: 67,961,547 (GRCm39) probably null Het
Cma2 A G 14: 56,211,256 (GRCm39) I183V probably damaging Het
Col18a1 C A 10: 76,949,177 (GRCm39) A112S possibly damaging Het
Ctu2 A G 8: 123,205,446 (GRCm39) D100G possibly damaging Het
Defb29 T C 2: 152,380,812 (GRCm39) K66E probably damaging Het
Dis3l T A 9: 64,219,232 (GRCm39) D566V probably damaging Het
Dtx1 C A 5: 120,832,955 (GRCm39) R161L probably damaging Het
Efcab6 T A 15: 83,836,422 (GRCm39) L436F probably benign Het
Fip1l1 A G 5: 74,731,776 (GRCm39) I254V possibly damaging Het
Gid8 C A 2: 180,356,501 (GRCm39) A46E probably damaging Het
Grm8 G T 6: 27,618,649 (GRCm39) Q398K probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c T C 18: 60,379,221 (GRCm39) V252A probably benign Het
Kcnt1 T C 2: 25,784,480 (GRCm39) probably benign Het
Lrrc8a T C 2: 30,145,683 (GRCm39) S166P probably damaging Het
Map2k6 A T 11: 110,387,299 (GRCm39) probably benign Het
Mmab A G 5: 114,571,405 (GRCm39) L157P probably damaging Het
Mmrn1 A T 6: 60,953,324 (GRCm39) E535V probably damaging Het
Mup4 T C 4: 59,958,482 (GRCm39) probably benign Het
Nup210 A G 6: 90,997,221 (GRCm39) S820P probably benign Het
Or52b4 A G 7: 102,184,517 (GRCm39) K188E possibly damaging Het
Pik3cg T C 12: 32,242,222 (GRCm39) I963V probably damaging Het
Plcg1 T C 2: 160,590,049 (GRCm39) probably null Het
Plscr1 T C 9: 92,148,438 (GRCm39) probably benign Het
Prss36 C T 7: 127,532,783 (GRCm39) G202E probably damaging Het
Psen2 A T 1: 180,068,350 (GRCm39) V101E probably damaging Het
Saxo1 T C 4: 86,405,999 (GRCm39) M67V possibly damaging Het
Sfrp4 G A 13: 19,807,728 (GRCm39) M42I probably damaging Het
Strn3 C A 12: 51,699,633 (GRCm39) probably benign Het
Tgfb1i1 C A 7: 127,848,476 (GRCm39) P197Q possibly damaging Het
Thsd4 A G 9: 59,904,456 (GRCm39) V580A probably benign Het
Tjp1 C A 7: 64,990,182 (GRCm39) probably benign Het
Tprn C T 2: 25,154,066 (GRCm39) A456V probably benign Het
Ttc34 T C 4: 154,945,727 (GRCm39) Y763H probably benign Het
Ttn T C 2: 76,601,507 (GRCm39) T18686A probably benign Het
Uggt2 T A 14: 119,332,722 (GRCm39) T71S probably benign Het
Vmn2r120 T A 17: 57,831,742 (GRCm39) Y349F probably benign Het
Zbtb41 A G 1: 139,351,576 (GRCm39) T230A 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 99,377,241 (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
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