Incidental Mutation 'IGL02437:A930011G23Rik'
ID293293
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 #IGL02437
Quality Score
Status
Chromosome5
Chromosomal Location99297244-99729065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 99229382 bp
ZygosityHeterozygous
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]
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I 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
IGL02473:A930011G23Rik APN 5 99222995 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