Incidental Mutation 'IGL02498:A930011G23Rik'
ID295881
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: 0.101) question?
Stock #IGL02498
Quality Score
Status
Chromosome5
Chromosomal Location99297244-99729065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99229377 bp
ZygosityHeterozygous
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]
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,623,845 T991A probably benign Het
Abcc9 A T 6: 142,671,539 probably null Het
Abcg8 T C 17: 84,683,265 W12R probably benign Het
Ablim1 A T 19: 57,152,319 C155* probably null Het
Adam33 A G 2: 131,053,237 C658R probably damaging Het
Adamts2 A G 11: 50,773,308 H357R possibly damaging Het
Adamts2 G T 11: 50,777,196 K528N probably damaging Het
Arhgef12 G A 9: 42,982,043 P955S probably benign Het
Atp2b2 T A 6: 113,793,854 I365F probably damaging Het
AW112010 T C 19: 11,048,337 noncoding transcript Het
AY358078 T C 14: 51,803,487 S88P probably benign Het
Cdc42bpg T C 19: 6,322,793 L1504S probably benign Het
Dgkg T A 16: 22,548,691 H593L probably damaging Het
Gm10463 T C 5: 32,131,398 probably benign Het
Grm1 A T 10: 10,719,979 L635Q probably damaging Het
Herc4 T C 10: 63,273,465 C160R probably benign Het
Hs6st1 G A 1: 36,103,740 R252H probably damaging Het
Litaf A G 16: 10,966,559 V29A possibly damaging Het
Lmo7 G A 14: 101,807,482 V57I probably benign Het
Loxl4 A T 19: 42,604,973 L253Q probably benign Het
Mon2 C T 10: 123,034,330 V458I probably benign Het
Ncstn G T 1: 172,068,592 F506L probably benign Het
Nedd8 T A 14: 55,663,816 D21V probably damaging Het
Oas1c T C 5: 120,805,526 T183A possibly damaging Het
Pcsk5 A T 19: 17,511,556 Y967N probably damaging Het
Phf2 A G 13: 48,805,239 S936P unknown Het
Pkd1 T C 17: 24,585,779 I3159T possibly damaging Het
Prrt3 C A 6: 113,497,827 V145F possibly damaging Het
Prx T A 7: 27,518,072 V666E probably damaging Het
Rapgef2 C T 3: 79,066,753 V1577M probably damaging Het
Sesn3 T C 9: 14,306,268 probably benign Het
Shoc2 T A 19: 54,027,776 L407* probably null Het
Slc6a12 A G 6: 121,361,070 M435V probably benign Het
Smarcc1 C T 9: 110,190,934 T623I probably damaging Het
Snx14 A G 9: 88,407,464 L245S probably damaging Het
Son T A 16: 91,656,825 M820K probably damaging Het
Sorcs1 T C 19: 50,678,168 T101A probably benign Het
Stoml2 C A 4: 43,031,045 V37L probably benign Het
Syde2 T A 3: 145,998,689 H465Q probably benign Het
Tmem164 T A X: 142,806,048 V40D possibly damaging Het
Trim37 A G 11: 87,185,050 E494G probably benign Het
Triobp A G 15: 78,961,043 D195G probably benign Het
Unc79 G A 12: 103,171,578 V2427M probably damaging Het
Usp27x T C X: 7,373,541 probably benign Het
Vmn2r113 T A 17: 22,958,375 V711D probably damaging Het
Zfp940 T C 7: 29,846,951 T7A probably damaging 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
IGL02473:A930011G23Rik APN 5 99222995 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