Incidental Mutation 'IGL02424:4930579F01Rik'
ID292847
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930579F01Rik
Ensembl Gene ENSMUSG00000012042
Gene NameRIKEN cDNA 4930579F01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02424
Quality Score
Status
Chromosome3
Chromosomal Location138164078-138193825 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 138174705 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]
Predicted Effect probably benign
Transcript: ENSMUST00000012186
SMART Domains Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042

DomainStartEndE-ValueType
Pfam:SPATIAL 17 201 1.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199293
SMART Domains Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042

DomainStartEndE-ValueType
Pfam:SPATIAL 1 76 9.6e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abl1 G A 2: 31,801,132 V888I probably benign Het
Adcy9 G T 16: 4,288,597 N884K probably damaging Het
Alyref T C 11: 120,595,307 N176D probably benign Het
Amtn T C 5: 88,381,597 probably benign Het
Baz1b T C 5: 135,217,979 Y761H probably damaging Het
Cckar T A 5: 53,706,428 T64S possibly damaging Het
Csmd1 A G 8: 16,092,326 F1521S probably benign Het
Cyp11b1 T C 15: 74,839,236 T198A probably benign Het
Def8 G T 8: 123,459,648 L399F possibly damaging Het
Epha7 A T 4: 28,948,790 probably benign Het
Ets1 T A 9: 32,754,293 Y181* probably null Het
Fas A T 19: 34,327,034 M232L probably damaging Het
Fkbp10 T A 11: 100,415,956 V37E probably damaging Het
Galnt3 A G 2: 66,095,788 probably null Het
Gdap1 T C 1: 17,161,178 V249A probably damaging Het
Gm5356 T A 8: 89,186,966 noncoding transcript Het
Gm7732 A G 17: 21,129,447 noncoding transcript Het
Gpr3 G T 4: 133,211,094 A89E probably damaging Het
Kat2a A G 11: 100,711,147 probably null Het
Kit T G 5: 75,639,106 D499E probably benign Het
Kmt2a C T 9: 44,824,635 probably benign Het
Med12l T C 3: 59,092,722 L666P probably benign Het
Mmp2 T G 8: 92,836,007 C291G probably damaging Het
Neb A G 2: 52,264,191 Y2303H probably damaging Het
Olfr305 C A 7: 86,363,480 V286L probably benign Het
Olfr412 T A 11: 74,365,473 M268K probably benign Het
Olfr97 T C 17: 37,232,372 probably benign Het
Pde1b T A 15: 103,528,219 probably benign Het
Prl7a2 A C 13: 27,667,970 C9G probably null Het
Rabl6 A G 2: 25,587,457 V327A probably benign Het
Robo2 T A 16: 73,973,301 I516F possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc35a3 G A 3: 116,694,618 T140I possibly damaging Het
Slc38a7 A G 8: 95,841,572 V395A probably damaging Het
Stag3 T C 5: 138,291,366 L266P probably damaging Het
Stag3 T A 5: 138,281,985 C37* probably null Het
Strn A G 17: 78,684,351 S180P probably damaging Het
Sulf1 A G 1: 12,796,840 T83A probably benign Het
Vmn1r69 T C 7: 10,580,658 I49V probably benign Het
Vrk2 G A 11: 26,476,564 P387L probably benign Het
Xdh A T 17: 73,926,570 M183K probably benign Het
Other mutations in 4930579F01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:4930579F01Rik APN 3 138186198 intron probably benign
IGL02121:4930579F01Rik APN 3 138164373 missense possibly damaging 0.93
R0008:4930579F01Rik UTSW 3 138176585 missense possibly damaging 0.67
R0008:4930579F01Rik UTSW 3 138176585 missense possibly damaging 0.67
R0373:4930579F01Rik UTSW 3 138173582 missense probably damaging 0.96
R1082:4930579F01Rik UTSW 3 138173571 missense possibly damaging 0.95
R1163:4930579F01Rik UTSW 3 138176510 missense probably damaging 1.00
R1538:4930579F01Rik UTSW 3 138183756 missense probably damaging 1.00
R2151:4930579F01Rik UTSW 3 138176456 critical splice donor site probably null
R2364:4930579F01Rik UTSW 3 138165823 missense probably benign 0.00
R3978:4930579F01Rik UTSW 3 138183674 missense probably benign 0.01
R4108:4930579F01Rik UTSW 3 138183670 missense probably benign 0.14
R5812:4930579F01Rik UTSW 3 138176538 missense probably damaging 1.00
R5960:4930579F01Rik UTSW 3 138183767 missense possibly damaging 0.58
R6329:4930579F01Rik UTSW 3 138173696 missense probably damaging 1.00
R6599:4930579F01Rik UTSW 3 138176489 missense probably benign 0.00
R6862:4930579F01Rik UTSW 3 138186188 intron probably benign
R6897:4930579F01Rik UTSW 3 138183773 missense possibly damaging 0.85
Posted On2015-04-16