Incidental Mutation 'IGL02422:A930011G23Rik'
ID 292708
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 # IGL02422
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,013,821 (GRCm39) noncoding transcript Het
Aak1 A T 6: 86,959,598 (GRCm39) T846S unknown Het
Adgrl1 A G 8: 84,664,115 (GRCm39) D1149G probably damaging Het
AI661453 C T 17: 47,778,017 (GRCm39) probably benign Het
Ap4b1 T C 3: 103,720,170 (GRCm39) V139A possibly damaging Het
Arhgef16 G A 4: 154,371,522 (GRCm39) R224* probably null Het
Ash1l T A 3: 88,976,386 (GRCm39) probably null Het
Atm A T 9: 53,412,092 (GRCm39) V988D probably damaging Het
C3 T C 17: 57,533,823 (GRCm39) E47G probably damaging Het
Cdkn2aip G A 8: 48,164,534 (GRCm39) S393L probably damaging Het
Cep20 T G 16: 14,118,070 (GRCm39) D150A probably benign Het
Cyp2c68 A C 19: 39,722,896 (GRCm39) N217K probably damaging Het
Dapp1 A T 3: 137,667,260 (GRCm39) S101T probably benign Het
Ddx25 T C 9: 35,462,660 (GRCm39) I242V probably null Het
Dpy19l4 T C 4: 11,265,803 (GRCm39) N715S possibly damaging Het
Dync1h1 A G 12: 110,606,644 (GRCm39) E2511G possibly damaging Het
Gm9839 T A 1: 32,558,943 (GRCm39) probably benign Het
Grn A G 11: 102,327,084 (GRCm39) probably benign Het
Haus5 T C 7: 30,359,571 (GRCm39) T196A possibly damaging Het
Ik A G 18: 36,886,313 (GRCm39) probably null Het
Inpp5d T G 1: 87,635,854 (GRCm39) F473C probably damaging Het
Kif19a C A 11: 114,680,187 (GRCm39) S841R probably damaging Het
Lipn G A 19: 34,046,063 (GRCm39) C12Y probably benign Het
Ltbp4 G T 7: 27,019,097 (GRCm39) P1074Q probably damaging Het
Mfap2 T C 4: 140,741,535 (GRCm39) S65P probably benign Het
Mtbp T C 15: 55,426,439 (GRCm39) F127S possibly damaging Het
Or8k37 A G 2: 86,469,560 (GRCm39) F164S probably damaging Het
Pappa2 T C 1: 158,764,503 (GRCm39) D336G probably damaging Het
Plekhh2 A G 17: 84,871,237 (GRCm39) probably benign Het
Plekhm3 A T 1: 64,961,025 (GRCm39) C410* probably null Het
Ppm1f T A 16: 16,735,580 (GRCm39) H265Q probably damaging Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Rasal3 T C 17: 32,617,947 (GRCm39) T207A probably benign Het
Rnf17 T A 14: 56,719,592 (GRCm39) N947K probably damaging Het
Rpl3l C A 17: 24,952,962 (GRCm39) Y307* probably null Het
Sema4d A G 13: 51,857,124 (GRCm39) S703P probably benign Het
Slc12a7 T C 13: 73,954,280 (GRCm39) M857T probably benign Het
Slc34a3 T C 2: 25,122,275 (GRCm39) D110G probably benign Het
Spata32 A T 11: 103,099,706 (GRCm39) N266K probably benign Het
Spata9 A G 13: 76,141,193 (GRCm39) I147V probably benign Het
Supt16 T C 14: 52,417,000 (GRCm39) Y326C possibly damaging Het
Tpx2 T C 2: 152,715,064 (GRCm39) I95T probably benign Het
Usp17ld T A 7: 102,899,967 (GRCm39) M322L probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I 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 99,377,236 (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
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