Incidental Mutation 'IGL01601:4930430A15Rik'
ID91767
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: 0.054) question?
Stock #IGL01601
Quality Score
Status
Chromosome2
Chromosomal Location111162061-111229602 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111193478 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 104 (C104S)
Ref Sequence ENSEMBL: ENSMUSP00000117759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000142636]
Predicted Effect unknown
Transcript: ENSMUST00000028577
AA Change: C476S
SMART Domains Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: C476S

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
Predicted Effect unknown
Transcript: ENSMUST00000142636
AA Change: C104S
SMART Domains Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: C104S

DomainStartEndE-ValueType
internal_repeat_1 1 69 7.48e-6 PROSPERO
internal_repeat_1 81 153 7.48e-6 PROSPERO
low complexity region 168 183 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 42,710,049 D628G probably benign Het
Aldh1l1 T A 6: 90,591,841 I708N probably damaging Het
Ank3 T A 10: 70,004,725 F985I possibly damaging Het
Arap2 A G 5: 62,641,342 W1315R probably damaging Het
Arhgef33 C A 17: 80,347,683 Q106K probably damaging Het
Atad5 G A 11: 80,095,517 G477S probably benign Het
Chgb T A 2: 132,793,491 I451K probably benign Het
Cln6 T A 9: 62,846,970 I98N probably damaging Het
Commd1 T C 11: 22,899,981 E234G probably damaging Het
Dock2 C A 11: 34,239,528 probably null Het
Flrt2 T C 12: 95,779,595 S236P probably damaging Het
Garnl3 G A 2: 32,997,689 Q770* probably null Het
Gpr22 C T 12: 31,710,045 probably benign Het
Hmcn1 A T 1: 150,627,413 D3880E probably benign Het
Lgals8 T C 13: 12,456,338 probably benign Het
Mccc1 A G 3: 35,989,952 V214A probably benign Het
Nat8l T C 5: 33,998,465 L155P probably damaging Het
Nckipsd A G 9: 108,813,955 S359G probably benign Het
Pex6 A C 17: 46,723,724 N785T probably damaging Het
Ptprz1 T A 6: 23,000,438 H842Q probably damaging Het
Rhno1 A T 6: 128,358,058 S101T probably damaging Het
Rnf103 T G 6: 71,509,183 V266G probably damaging Het
Slc25a39 T C 11: 102,405,718 D100G probably damaging Het
Sspo T C 6: 48,486,379 L3746P probably benign Het
Svep1 C T 4: 58,084,872 G1822E probably damaging Het
Tbl3 T A 17: 24,702,317 D500V probably damaging Het
Tmc5 T C 7: 118,623,824 probably benign Het
Usp20 C T 2: 31,011,794 R524W probably benign Het
Wnk2 G T 13: 49,076,562 P829T probably damaging Het
Zmiz1 A G 14: 25,581,644 N84S possibly 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
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
IGL02620:4930430A15Rik APN 2 111211625 missense probably benign 0.00
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
R7958:4930430A15Rik UTSW 2 111170325 missense unknown
R8421:4930430A15Rik UTSW 2 111218610 nonsense probably null
Posted On2013-12-09