Incidental Mutation 'IGL02163:4930447A16Rik'
ID 282550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930447A16Rik
Ensembl Gene ENSMUSG00000022288
Gene Name RIKEN cDNA 4930447A16 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02163
Quality Score
Status
Chromosome 15
Chromosomal Location 37425835-37440897 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 37439852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000153775] [ENSMUST00000150453] [ENSMUST00000168992] [ENSMUST00000148652]
AlphaFold Q9D5F6
Predicted Effect unknown
Transcript: ENSMUST00000022897
AA Change: S117P
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: ENSMUST00000132423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145909
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: 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
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: 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh4 A G 14: 50,011,614 (GRCm39) V31A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cap1 C T 4: 122,756,209 (GRCm39) V396I probably benign Het
Ccdc80 T C 16: 44,916,477 (GRCm39) V411A probably benign Het
Cyp2w1 T A 5: 139,341,920 (GRCm39) M111K probably damaging Het
Dop1b T C 16: 93,559,315 (GRCm39) V687A possibly damaging Het
Fam184a T C 10: 53,523,230 (GRCm39) probably null Het
Fhip1a A G 3: 85,595,859 (GRCm39) F342S possibly damaging Het
Foxred1 A T 9: 35,117,192 (GRCm39) L313H probably damaging Het
Gm38392 G A 3: 88,152,887 (GRCm39) probably benign Het
Kmt2d A T 15: 98,733,109 (GRCm39) probably benign Het
Lrpprc A T 17: 85,060,900 (GRCm39) M591K probably damaging Het
Ncr1 A T 7: 4,344,262 (GRCm39) S217C possibly damaging Het
Or10al7 T C 17: 38,365,641 (GRCm39) H281R probably benign Het
Or1e1 T A 11: 73,245,320 (GRCm39) V247E probably damaging Het
Pds5b T C 5: 150,679,871 (GRCm39) F526L probably benign Het
Plekhh2 A T 17: 84,898,223 (GRCm39) S955C probably benign Het
Prpf19 T A 19: 10,879,800 (GRCm39) S307R probably benign Het
Pwp2 G A 10: 78,014,119 (GRCm39) P456S possibly damaging Het
Rgs8 C A 1: 153,547,511 (GRCm39) T47K possibly damaging Het
Samd9l T A 6: 3,374,246 (GRCm39) N1005I possibly damaging Het
Tmc4 A G 7: 3,669,824 (GRCm39) L20P probably damaging Het
Ttc21a C T 9: 119,779,901 (GRCm39) Q403* probably null Het
Zbtb43 T C 2: 33,343,795 (GRCm39) R477G possibly damaging Het
Other mutations in 4930447A16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02639:4930447A16Rik APN 15 37,430,048 (GRCm39) nonsense probably null
R0569:4930447A16Rik UTSW 15 37,425,863 (GRCm39) start codon destroyed probably null
R1596:4930447A16Rik UTSW 15 37,426,018 (GRCm39) intron probably benign
R1728:4930447A16Rik UTSW 15 37,439,844 (GRCm39) intron probably benign
R1729:4930447A16Rik UTSW 15 37,439,844 (GRCm39) intron probably benign
R1967:4930447A16Rik UTSW 15 37,439,842 (GRCm39) intron probably benign
R2018:4930447A16Rik UTSW 15 37,440,742 (GRCm39) intron probably benign
R4811:4930447A16Rik UTSW 15 37,425,952 (GRCm39) intron probably benign
R5760:4930447A16Rik UTSW 15 37,439,835 (GRCm39) intron probably benign
R6572:4930447A16Rik UTSW 15 37,425,961 (GRCm39) nonsense probably null
R6604:4930447A16Rik UTSW 15 37,439,823 (GRCm39) intron probably benign
R8544:4930447A16Rik UTSW 15 37,425,979 (GRCm39) intron probably benign
Posted On 2015-04-16