Incidental Mutation 'IGL02639:4930447A16Rik'
ID301656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930447A16Rik
Ensembl Gene ENSMUSG00000022288
Gene NameRIKEN cDNA 4930447A16 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02639
Quality Score
Status
Chromosome15
Chromosomal Location37425554-37440644 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 37429804 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 71 (R71*)
Ref Sequence ENSEMBL: ENSMUSP00000022897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000168992] [ENSMUST00000153775] [ENSMUST00000148652] [ENSMUST00000150453]
Predicted Effect probably null
Transcript: ENSMUST00000022897
AA Change: R71*
Predicted Effect probably benign
Transcript: ENSMUST00000090150
SMART Domains Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116445
SMART Domains Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119730
SMART Domains Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120746
SMART Domains Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151356
Predicted Effect probably benign
Transcript: ENSMUST00000168992
SMART Domains Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153775
SMART Domains Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 174 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148652
SMART Domains Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
Pfam:EF-hand_5 149 163 1.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150453
SMART Domains Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359

DomainStartEndE-ValueType
Pfam:EF-hand_7 3 88 3.9e-8 PFAM
Pfam:EF-hand_8 39 88 8.2e-8 PFAM
Pfam:EF-hand_1 64 88 5e-8 PFAM
Pfam:EF-hand_6 64 88 1.6e-6 PFAM
Pfam:EF-hand_5 65 86 2.5e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cul5 T C 9: 53,655,342 D130G possibly damaging Het
Cyp2j5 T A 4: 96,658,749 Q176L probably benign Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Ddo A G 10: 40,647,737 D241G probably damaging Het
Defa29 A G 8: 21,326,121 C77R possibly damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hells G T 19: 38,938,429 L84F probably damaging Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in 4930447A16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02163:4930447A16Rik APN 15 37439608 intron probably benign
R0569:4930447A16Rik UTSW 15 37425619 start codon destroyed probably null
R1596:4930447A16Rik UTSW 15 37425774 intron probably benign
R1728:4930447A16Rik UTSW 15 37439600 intron probably benign
R1729:4930447A16Rik UTSW 15 37439600 intron probably benign
R1967:4930447A16Rik UTSW 15 37439598 intron probably benign
R2018:4930447A16Rik UTSW 15 37440498 intron probably benign
R4811:4930447A16Rik UTSW 15 37425708 intron probably benign
R5760:4930447A16Rik UTSW 15 37439591 intron probably benign
R6572:4930447A16Rik UTSW 15 37425717 nonsense probably null
R6604:4930447A16Rik UTSW 15 37439579 intron probably benign
Posted On2015-04-16