Incidental Mutation 'IGL02620:4930430A15Rik'
ID300812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930430A15Rik
Ensembl Gene ENSMUSG00000027157
Gene NameRIKEN cDNA 4930430A15 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02620
Quality Score
Status
Chromosome2
Chromosomal Location111162061-111229602 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 111211625 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 322 (V322I)
Ref Sequence ENSEMBL: ENSMUSP00000028577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577]
Predicted Effect probably benign
Transcript: ENSMUST00000028577
AA Change: V322I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V322I

DomainStartEndE-ValueType
ANK 78 107 1.61e-4 SMART
ANK 111 140 3.6e-2 SMART
ANK 144 173 4.89e-4 SMART
ANK 177 206 4.03e-5 SMART
ANK 210 239 8.72e-1 SMART
Blast:ANK 243 272 4e-12 BLAST
low complexity region 460 472 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,035,945 V4174A possibly damaging Het
Abcc12 A T 8: 86,505,314 probably null Het
Ccdc150 T A 1: 54,263,545 L108* probably null Het
Cdon C T 9: 35,452,799 T71I probably benign Het
Chdh T C 14: 30,031,139 W2R probably damaging Het
Ckap5 T G 2: 91,606,369 L1605V probably benign Het
Cluh C T 11: 74,665,067 Q819* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cwc27 C A 13: 104,802,206 probably benign Het
Elk4 C A 1: 132,018,371 A329D probably benign Het
Fbxo40 T C 16: 36,966,080 H709R probably benign Het
Flna A G X: 74,229,976 probably benign Het
Gm20390 G T 11: 93,952,856 R173S possibly damaging Het
Grip2 G T 6: 91,778,606 D592E possibly damaging Het
H2-T24 T G 17: 36,017,291 N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 probably benign Het
Ighv2-2 T A 12: 113,588,292 T109S possibly damaging Het
Ipo11 T C 13: 106,876,281 probably null Het
Kcnh8 T C 17: 52,898,497 M540T probably damaging Het
Kifc3 A G 8: 95,109,954 S82P probably damaging Het
Map4k5 T C 12: 69,892,702 Y20C probably benign Het
Milr1 C A 11: 106,754,918 S95R probably damaging Het
Mtnr1b A C 9: 15,874,321 V47G possibly damaging Het
Olfr2 T A 7: 107,001,618 K81* probably null Het
Phactr2 T C 10: 13,291,888 R100G probably damaging Het
Ppargc1b A G 18: 61,298,739 Y997H probably damaging Het
Pramel3 A G X: 135,310,409 M397V probably benign Het
Ptprz1 A G 6: 22,959,740 K79E probably damaging Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Raf1 A T 6: 115,632,887 probably benign Het
Rptor T C 11: 119,780,587 L292P probably benign Het
Slc25a45 A G 19: 5,884,526 D174G probably damaging Het
Tbcd C T 11: 121,461,255 T146M probably damaging Het
Zfp458 T A 13: 67,257,994 H127L probably damaging Het
Other mutations in 4930430A15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:4930430A15Rik APN 2 111220762 missense probably damaging 0.98
IGL01403:4930430A15Rik APN 2 111229170 unclassified probably benign
IGL01431:4930430A15Rik APN 2 111225395 unclassified probably benign
IGL01601:4930430A15Rik APN 2 111193478 missense unknown
IGL01649:4930430A15Rik APN 2 111214576 splice site probably benign
IGL02355:4930430A15Rik APN 2 111211651 splice site probably benign
IGL02362:4930430A15Rik APN 2 111211651 splice site probably benign
IGL02485:4930430A15Rik APN 2 111228325 missense probably damaging 0.97
IGL03156:4930430A15Rik APN 2 111200412 missense possibly damaging 0.90
IGL02980:4930430A15Rik UTSW 2 111164473 missense unknown
R0577:4930430A15Rik UTSW 2 111194349 missense probably benign 0.27
R0638:4930430A15Rik UTSW 2 111200418 missense probably damaging 0.96
R0645:4930430A15Rik UTSW 2 111214583 critical splice donor site probably null
R0671:4930430A15Rik UTSW 2 111204137 missense possibly damaging 0.93
R0829:4930430A15Rik UTSW 2 111198105 missense possibly damaging 0.92
R1464:4930430A15Rik UTSW 2 111225403 critical splice donor site probably null
R1464:4930430A15Rik UTSW 2 111225403 critical splice donor site probably null
R1486:4930430A15Rik UTSW 2 111200358 missense possibly damaging 0.84
R1509:4930430A15Rik UTSW 2 111218627 missense probably benign
R1672:4930430A15Rik UTSW 2 111220774 missense probably benign 0.00
R2073:4930430A15Rik UTSW 2 111200418 missense probably damaging 0.96
R2074:4930430A15Rik UTSW 2 111200418 missense probably damaging 0.96
R2075:4930430A15Rik UTSW 2 111200418 missense probably damaging 0.96
R2899:4930430A15Rik UTSW 2 111220670 splice site probably benign
R2965:4930430A15Rik UTSW 2 111204019 missense possibly damaging 0.61
R3110:4930430A15Rik UTSW 2 111228054 missense probably damaging 1.00
R3112:4930430A15Rik UTSW 2 111228054 missense probably damaging 1.00
R4489:4930430A15Rik UTSW 2 111220702 missense probably benign 0.31
R4821:4930430A15Rik UTSW 2 111204145 critical splice acceptor site probably null
R4925:4930430A15Rik UTSW 2 111218616 missense probably benign 0.41
R5045:4930430A15Rik UTSW 2 111193459 missense unknown
R5057:4930430A15Rik UTSW 2 111225421 missense probably benign 0.12
R5128:4930430A15Rik UTSW 2 111164329 nonsense probably null
R5250:4930430A15Rik UTSW 2 111228077 missense possibly damaging 0.87
R5333:4930430A15Rik UTSW 2 111194337 missense possibly damaging 0.92
R5376:4930430A15Rik UTSW 2 111215599 missense probably benign 0.44
R5677:4930430A15Rik UTSW 2 111211565 missense probably benign
R5722:4930430A15Rik UTSW 2 111204123 missense probably benign
R5735:4930430A15Rik UTSW 2 111225492 nonsense probably null
R6170:4930430A15Rik UTSW 2 111227948 missense probably benign 0.03
R6366:4930430A15Rik UTSW 2 111169592 critical splice donor site probably null
R6496:4930430A15Rik UTSW 2 111164472 missense unknown
R6654:4930430A15Rik UTSW 2 111171884 missense unknown
R6983:4930430A15Rik UTSW 2 111228250 critical splice donor site probably null
R7371:4930430A15Rik UTSW 2 111193481 missense unknown
Posted On2015-04-16