Incidental Mutation 'IGL02473:A930011G23Rik'
ID294812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A930011G23Rik
Ensembl Gene ENSMUSG00000089809
Gene NameRIKEN cDNA A930011G23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02473
Quality Score
Status
Chromosome5
Chromosomal Location99297244-99729065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99222995 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 468 (Y468C)
Ref Sequence ENSEMBL: ENSMUSP00000147997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]
Predicted Effect probably damaging
Transcript: ENSMUST00000031276
AA Change: Y382C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: Y382C

DomainStartEndE-ValueType
RasGEFN 33 157 5.22e-4 SMART
RasGEF 201 454 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166484
AA Change: Y340C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: Y340C

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: Y381C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: Y381C

DomainStartEndE-ValueType
RasGEFN 33 157 2.8e-4 SMART
RasGEF 200 453 3.26e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209346
AA Change: Y468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,388,098 probably benign Het
9030624G23Rik A G 12: 24,044,852 F106S probably benign Het
Abcd3 T C 3: 121,769,244 T515A possibly damaging Het
Acrbp A G 6: 125,054,698 T321A probably benign Het
Aldh2 T C 5: 121,572,078 Y398C probably damaging Het
Baz2b T A 2: 59,960,063 D602V probably benign Het
Ccdc105 A T 10: 78,750,594 S208T probably benign Het
Ccdc191 T C 16: 43,956,894 V714A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn2 A G 1: 132,518,331 L839P probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a16 T C 5: 145,440,494 I428V possibly damaging Het
Dnah7b A T 1: 46,234,193 T2494S probably damaging Het
Dnaja3 T A 16: 4,701,240 Y348* probably null Het
Dnajb3 C A 1: 88,205,382 E99D probably benign Het
Igf2bp3 A G 6: 49,094,229 F411L probably benign Het
L3mbtl4 A T 17: 68,559,777 Y337F possibly damaging Het
Lias A G 5: 65,405,402 T258A possibly damaging Het
Lipk T A 19: 34,039,148 C254S probably damaging Het
Map4k1 T C 7: 28,999,872 L596S probably damaging Het
Mdga2 T C 12: 66,550,611 E703G possibly damaging Het
Mreg A G 1: 72,162,336 Y166H probably damaging Het
Olfr1272 T C 2: 90,281,696 K293R probably null Het
Olfr38 A G 6: 42,762,706 Y218C probably damaging Het
Pcgf2 A G 11: 97,691,921 probably benign Het
Prdm15 T C 16: 97,837,605 probably null Het
Rnf111 A G 9: 70,440,858 V810A probably damaging Het
Rpl23a-ps1 A T 1: 45,981,791 noncoding transcript Het
Smc3 C A 19: 53,636,448 A779E probably benign Het
Smtn C T 11: 3,532,463 G140D probably damaging Het
Son T C 16: 91,658,795 S1477P probably damaging Het
Strn T C 17: 78,684,293 D20G possibly damaging Het
Tnxb T C 17: 34,717,762 L2798P probably damaging Het
Ttn A C 2: 76,945,552 N1715K probably damaging Het
Vps33a A T 5: 123,569,571 I111N probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan4d A T 7: 11,162,409 C345S probably benign Het
Other mutations in A930011G23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:A930011G23Rik APN 5 99243243 unclassified probably null
IGL00536:A930011G23Rik APN 5 99222383 missense probably damaging 1.00
IGL00848:A930011G23Rik APN 5 99222378 missense probably damaging 1.00
IGL01400:A930011G23Rik APN 5 99243101 missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02421:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02422:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02423:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02424:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02427:A930011G23Rik APN 5 99233970 missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02437:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02498:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02499:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02537:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02609:A930011G23Rik APN 5 99233995 splice site probably benign
IGL02735:A930011G23Rik APN 5 99229377 missense probably damaging 1.00
IGL02735:A930011G23Rik APN 5 99229382 missense probably damaging 1.00
IGL02975:A930011G23Rik APN 5 99233925 missense possibly damaging 0.81
IGL03129:A930011G23Rik APN 5 99229379 missense probably damaging 0.98
IGL03139:A930011G23Rik APN 5 99243208 missense probably benign 0.00
IGL03239:A930011G23Rik APN 5 99233976 missense probably damaging 1.00
IGL03295:A930011G23Rik APN 5 99243056 splice site probably benign
R0011:A930011G23Rik UTSW 5 99232354 missense probably damaging 1.00
R0738:A930011G23Rik UTSW 5 99240953 missense probably benign 0.08
R0840:A930011G23Rik UTSW 5 99234688 missense probably benign 0.00
R1779:A930011G23Rik UTSW 5 99223038 splice site probably benign
R1799:A930011G23Rik UTSW 5 99234576 missense probably benign 0.01
R1992:A930011G23Rik UTSW 5 99233925 missense possibly damaging 0.81
R2054:A930011G23Rik UTSW 5 99228055 missense probably benign 0.01
R2157:A930011G23Rik UTSW 5 99232097 missense probably damaging 0.99
R2184:A930011G23Rik UTSW 5 99232369 missense possibly damaging 0.69
R4565:A930011G23Rik UTSW 5 99227947 intron probably benign
R4930:A930011G23Rik UTSW 5 99222404 missense possibly damaging 0.81
R5065:A930011G23Rik UTSW 5 99234573 missense probably benign 0.18
R5739:A930011G23Rik UTSW 5 99221430 missense probably damaging 1.00
R5806:A930011G23Rik UTSW 5 99240872 missense probably benign 0.05
Posted On2015-04-16