Incidental Mutation 'R1596:4930447A16Rik'
ID 175832
Institutional Source Beutler Lab
Gene Symbol 4930447A16Rik
Ensembl Gene ENSMUSG00000022288
Gene Name RIKEN cDNA 4930447A16 gene
Synonyms
MMRRC Submission 039633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1596 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 37425835-37440897 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 37426018 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] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000168992] [ENSMUST00000153775]
AlphaFold Q9D5F6
Predicted Effect unknown
Transcript: ENSMUST00000022897
AA Change: N53D
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 noncoding transcript
Transcript: ENSMUST00000120559
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: ENSMUST00000128804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127335
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
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 87.7%
Validation Efficiency 97% (70/72)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,958,886 (GRCm39) Y745F possibly damaging Het
Abl1 A G 2: 31,680,350 (GRCm39) N316S probably damaging Het
Ackr2 T C 9: 121,738,278 (GRCm39) F218L probably damaging Het
Adam6b T A 12: 113,454,646 (GRCm39) Y488N probably damaging Het
Arhgap10 A G 8: 78,177,326 (GRCm39) I103T possibly damaging Het
Atm A G 9: 53,364,678 (GRCm39) V2669A probably damaging Het
Atp10b A G 11: 43,126,594 (GRCm39) K1117E probably damaging Het
Brinp3 T C 1: 146,390,520 (GRCm39) V22A probably benign Het
Casp8 G T 1: 58,870,833 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,153,930 (GRCm39) K626N possibly damaging Het
Clcn6 T A 4: 148,107,836 (GRCm39) S193C probably damaging Het
Col11a1 C T 3: 113,946,262 (GRCm39) probably benign Het
Csn1s2b T A 5: 87,966,917 (GRCm39) probably benign Het
Cst5 T C 2: 149,247,329 (GRCm39) V15A unknown Het
Cttnbp2 A G 6: 18,408,591 (GRCm39) F1010S probably damaging Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dsg1c A G 18: 20,415,104 (GRCm39) Y667C probably damaging Het
Ep400 A T 5: 110,856,727 (GRCm39) probably benign Het
Fam83c C T 2: 155,672,982 (GRCm39) probably null Het
Fbxw20 C T 9: 109,050,368 (GRCm39) C419Y probably damaging Het
Fgd2 G A 17: 29,595,904 (GRCm39) V521I probably benign Het
Frrs1 A G 3: 116,676,848 (GRCm39) probably benign Het
Gli3 C A 13: 15,900,056 (GRCm39) Q1148K possibly damaging Het
Hdac5 G T 11: 102,095,482 (GRCm39) probably null Het
Ice1 C T 13: 70,753,014 (GRCm39) R1024H possibly damaging Het
Irak3 A T 10: 120,018,451 (GRCm39) I99N probably damaging Het
Klhl31 A G 9: 77,557,356 (GRCm39) D24G probably damaging Het
Lrba C T 3: 86,257,611 (GRCm39) Q1292* probably null Het
Map1a C T 2: 121,120,246 (GRCm39) A44V probably benign Het
Mbd2 T A 18: 70,749,703 (GRCm39) M306K probably damaging Het
Mrc1 C T 2: 14,253,701 (GRCm39) H241Y possibly damaging Het
Mrgprg A G 7: 143,318,431 (GRCm39) F227S possibly damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Ncf4 G A 15: 78,134,637 (GRCm39) E30K probably damaging Het
Nlrp4c C A 7: 6,069,777 (GRCm39) D559E probably benign Het
Nxpe4 T A 9: 48,307,855 (GRCm39) W320R probably damaging Het
Or10a3n T A 7: 108,493,086 (GRCm39) H176L probably damaging Het
Or52n4b T A 7: 108,144,290 (GRCm39) M184K possibly damaging Het
Or6z5 T C 7: 6,477,514 (GRCm39) L135P probably damaging Het
Pdzrn3 A G 6: 101,127,966 (GRCm39) V900A probably benign Het
Prcp T C 7: 92,567,042 (GRCm39) probably benign Het
Prkaa2 A T 4: 104,893,526 (GRCm39) D474E probably damaging Het
Prl3a1 A G 13: 27,443,600 (GRCm39) probably benign Het
Ptpra T A 2: 130,386,872 (GRCm39) Y624N probably damaging Het
Ramp1 T C 1: 91,151,022 (GRCm39) V129A possibly damaging Het
Reep1 G T 6: 71,733,421 (GRCm39) probably null Het
Robo3 C T 9: 37,335,928 (GRCm39) probably null Het
Sapcd2 T A 2: 25,266,422 (GRCm39) I403N probably damaging Het
Sdk2 T A 11: 113,729,435 (GRCm39) probably benign Het
Serpinb3a T C 1: 106,974,904 (GRCm39) M210V probably benign Het
Slc45a3 T A 1: 131,909,267 (GRCm39) I488N probably damaging Het
Tnrc6c C T 11: 117,648,867 (GRCm39) P1513S probably damaging Het
Trank1 T A 9: 111,195,358 (GRCm39) H1127Q possibly damaging Het
Trim67 T C 8: 125,552,878 (GRCm39) V660A probably damaging Het
Ubash3b A G 9: 40,942,793 (GRCm39) I233T probably benign Het
Unkl A G 17: 25,424,707 (GRCm39) R245G probably null Het
Other mutations in 4930447A16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02163:4930447A16Rik APN 15 37,439,852 (GRCm39) intron probably benign
IGL02639:4930447A16Rik APN 15 37,430,048 (GRCm39) nonsense probably null
R0569:4930447A16Rik UTSW 15 37,425,863 (GRCm39) start codon destroyed probably null
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
Predicted Primers PCR Primer
(F):5'- CCTCCCTGTGACATCAAAGCCAATG -3'
(R):5'- GCTTACAGTGGTACAGTGTGGTCAG -3'

Sequencing Primer
(F):5'- TGGAAACCAGGCTCTTCCC -3'
(R):5'- gtacagtgtGGTCAGGCAGAC -3'
Posted On 2014-04-24