Incidental Mutation 'R0569:4930447A16Rik'
ID 46326
Institutional Source Beutler Lab
Gene Symbol 4930447A16Rik
Ensembl Gene ENSMUSG00000022288
Gene Name RIKEN cDNA 4930447A16 gene
Synonyms
MMRRC Submission 038760-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0569 (G1)
Quality Score 181
Status Not validated
Chromosome 15
Chromosomal Location 37425835-37440897 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 37425863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000022897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022897] [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000153775] [ENSMUST00000168992]
AlphaFold Q9D5F6
Predicted Effect probably null
Transcript: ENSMUST00000022897
AA Change: M1T
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: ENSMUST00000123777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151356
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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,621,016 (GRCm39) I572M possibly damaging Het
4930590J08Rik C A 6: 91,919,559 (GRCm39) C739* probably null Het
Adcy1 T A 11: 7,096,514 (GRCm39) V634E probably benign Het
Ankfy1 T A 11: 72,644,434 (GRCm39) H710Q possibly damaging Het
Ankrd60 C T 2: 173,412,859 (GRCm39) V90M probably damaging Het
Asgr2 A T 11: 69,988,703 (GRCm39) Q132L probably benign Het
Cchcr1 T A 17: 35,839,865 (GRCm39) probably null Het
Ces1h T C 8: 94,078,774 (GRCm39) K523E unknown Het
Clec3a G T 8: 115,152,476 (GRCm39) G161C probably damaging Het
Cracr2b G A 7: 141,044,848 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,597,160 (GRCm39) L17F probably damaging Het
Dhx29 T A 13: 113,084,748 (GRCm39) N655K probably benign Het
Dst C A 1: 34,332,508 (GRCm39) L4748I probably damaging Het
Eif2b5 G C 16: 20,321,303 (GRCm39) L285F probably benign Het
Enox1 T A 14: 77,875,117 (GRCm39) D441E probably damaging Het
Fam110a T C 2: 151,812,404 (GRCm39) E122G probably damaging Het
Fam161b T A 12: 84,395,413 (GRCm39) E510V probably damaging Het
Gabrd T C 4: 155,469,880 (GRCm39) Y443C probably damaging Het
Gcn1 T G 5: 115,733,118 (GRCm39) S1052A probably benign Het
Gnptab A G 10: 88,264,419 (GRCm39) E279G possibly damaging Het
Hoxa6 T A 6: 52,185,163 (GRCm39) probably null Het
Ibtk T A 9: 85,590,234 (GRCm39) probably benign Het
Il6ra A T 3: 89,785,149 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,032 (GRCm39) probably benign Het
Kcnk2 A C 1: 189,071,998 (GRCm39) L110R probably damaging Het
Knl1 T A 2: 118,927,916 (GRCm39) V1919D possibly damaging Het
Lrp1b A T 2: 40,779,251 (GRCm39) L2597Q probably benign Het
Magi3 A G 3: 103,923,358 (GRCm39) S1120P probably benign Het
Map3k8 T C 18: 4,349,162 (GRCm39) D52G probably benign Het
Mcat C T 15: 83,433,449 (GRCm39) R198H probably benign Het
Mnd1 A G 3: 84,012,286 (GRCm39) V141A probably benign Het
Morc1 T C 16: 48,407,485 (GRCm39) L667P probably benign Het
Mrps6 A G 16: 91,908,808 (GRCm39) K125E possibly damaging Het
Mst1 T C 9: 107,959,500 (GRCm39) F262S probably damaging Het
Or5j3 T G 2: 86,128,941 (GRCm39) I260M probably damaging Het
Or7e178 T A 9: 20,225,875 (GRCm39) I114F probably damaging Het
Pbsn C G X: 76,897,046 (GRCm39) G15A possibly damaging Het
Pcnx1 T C 12: 82,038,804 (GRCm39) I2023T probably benign Het
Pds5a T G 5: 65,813,744 (GRCm39) N247T probably damaging Het
Peak1 T C 9: 56,167,373 (GRCm39) Y185C probably damaging Het
Phkb T A 8: 86,744,031 (GRCm39) I560N probably damaging Het
Plekhn1 T C 4: 156,309,658 (GRCm39) I160V probably damaging Het
Rabgap1 T G 2: 37,379,729 (GRCm39) probably benign Het
Rdh10 T G 1: 16,199,517 (GRCm39) V241G probably damaging Het
Selenow A T 7: 15,654,042 (GRCm39) C37S probably benign Het
Sema6a A T 18: 47,403,872 (GRCm39) probably null Het
Slc12a3 T C 8: 95,057,153 (GRCm39) probably null Het
Slc22a21 T G 11: 53,842,636 (GRCm39) M498L probably benign Het
Spink5 A T 18: 44,122,486 (GRCm39) N317I probably damaging Het
Srek1 A G 13: 103,885,370 (GRCm39) probably benign Het
Syt11 A G 3: 88,655,230 (GRCm39) V357A probably benign Het
Tcof1 T A 18: 60,962,107 (GRCm39) K707N possibly damaging Het
Tfip11 C T 5: 112,475,960 (GRCm39) R42C probably damaging Het
Trim39 T C 17: 36,574,623 (GRCm39) K260E probably benign Het
Ttn T C 2: 76,553,663 (GRCm39) T22658A possibly damaging Het
Unc45b C T 11: 82,827,638 (GRCm39) probably benign Het
Vmn1r236 A G 17: 21,507,172 (GRCm39) I97V probably benign Het
Vps13c T C 9: 67,881,001 (GRCm39) V657A probably damaging Het
Zkscan2 A G 7: 123,097,898 (GRCm39) V166A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAATGCTATGAGTGTGAGAGGCACC -3'
(R):5'- ACCACAGGCCCTTGTTTGGAGAAG -3'

Sequencing Primer
(F):5'- AGTGTGAGAGGCACCATTTC -3'
(R):5'- GGAGAAGATTACCTCTTTGCCAG -3'
Posted On 2013-06-11