Incidental Mutation 'R7390:4930486L24Rik'
ID 573386
Institutional Source Beutler Lab
Gene Symbol 4930486L24Rik
Ensembl Gene ENSMUSG00000050345
Gene Name RIKEN cDNA 4930486L24 gene
Synonyms
MMRRC Submission 045472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R7390 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 60990426-61012230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60992152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 291 (D291E)
Ref Sequence ENSEMBL: ENSMUSP00000089157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091569
AA Change: D291E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: D291E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Inhibitor_I29 29 88 1e-19 SMART
Pept_C1 114 332 7.93e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225690
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,036,487 (GRCm39) V541I probably benign Het
Adamts15 A T 9: 30,822,404 (GRCm39) probably null Het
Adgrg7 A G 16: 56,553,207 (GRCm39) I630T probably damaging Het
Ahnak A G 19: 8,980,569 (GRCm39) I618V probably benign Het
Amotl2 T A 9: 102,608,889 (GRCm39) V801E probably damaging Het
Ankrd17 T C 5: 90,430,779 (GRCm39) T1002A probably benign Het
Bmp7 C T 2: 172,711,998 (GRCm39) D409N probably damaging Het
Bpifb2 A G 2: 153,731,726 (GRCm39) N293S possibly damaging Het
Ccdc162 A G 10: 41,510,044 (GRCm39) C854R probably benign Het
Ccdc171 A G 4: 83,736,304 (GRCm39) E1225G probably damaging Het
Cep350 T C 1: 155,741,833 (GRCm39) E2146G possibly damaging Het
Ces1a A C 8: 93,771,469 (GRCm39) probably null Het
Cfap45 T G 1: 172,368,925 (GRCm39) D444E probably benign Het
Cfap61 T C 2: 145,843,802 (GRCm39) V296A probably benign Het
Cgnl1 C T 9: 71,552,931 (GRCm39) R1011H probably benign Het
Cops4 C T 5: 100,691,741 (GRCm39) R347C probably damaging Het
D16Ertd472e G T 16: 78,344,576 (GRCm39) D177E probably benign Het
Dcdc2a T C 13: 25,291,600 (GRCm39) V195A possibly damaging Het
Dipk2a A G 9: 94,419,436 (GRCm39) S165P probably damaging Het
Dpagt1 G A 9: 44,243,319 (GRCm39) V285I probably benign Het
Dspp G T 5: 104,323,552 (GRCm39) A232S probably damaging Het
Efcab3 T C 11: 104,615,411 (GRCm39) I726T possibly damaging Het
Ephx2 G A 14: 66,347,904 (GRCm39) Het
Fat1 T C 8: 45,405,511 (GRCm39) V754A possibly damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Gldc A T 19: 30,077,314 (GRCm39) S953T possibly damaging Het
Gm1123 T C 9: 98,893,033 (GRCm39) N315S probably benign Het
Golga2 A G 2: 32,178,202 (GRCm39) E37G Het
Gpr139 T A 7: 118,743,835 (GRCm39) Q250L probably benign Het
Grik3 C T 4: 125,543,532 (GRCm39) R283C probably damaging Het
Haao A C 17: 84,154,081 (GRCm39) V22G probably damaging Het
Hspg2 T A 4: 137,266,490 (GRCm39) F1884I probably damaging Het
Hyal3 G A 9: 107,462,166 (GRCm39) G67S probably damaging Het
Kbtbd3 T A 9: 4,330,424 (GRCm39) I266K probably benign Het
Klhl26 A C 8: 70,905,499 (GRCm39) L137R probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lars1 A G 18: 42,343,083 (GRCm39) probably null Het
Lats1 C T 10: 7,577,859 (GRCm39) Q328* probably null Het
Lingo3 G A 10: 80,670,463 (GRCm39) T489I probably damaging Het
Lmtk2 T C 5: 144,066,261 (GRCm39) V65A possibly damaging Het
Lysmd1 T C 3: 95,045,795 (GRCm39) S211P probably damaging Het
Med15 C T 16: 17,540,626 (GRCm39) S21N unknown Het
Nav1 T C 1: 135,512,656 (GRCm39) T135A probably benign Het
Nt5c1a G C 4: 123,102,272 (GRCm39) R66T probably benign Het
Pclo T C 5: 14,732,024 (GRCm39) Y3509H unknown Het
Pkp4 G A 2: 59,140,484 (GRCm39) G397R possibly damaging Het
Ppp1r21 G A 17: 88,856,958 (GRCm39) A138T probably benign Het
Pum3 A T 19: 27,401,642 (GRCm39) V136D probably benign Het
Rab11fip3 A T 17: 26,287,126 (GRCm39) D342E possibly damaging Het
Rcvrn T A 11: 67,590,883 (GRCm39) W156R probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Serpina1d T C 12: 103,734,037 (GRCm39) D89G possibly damaging Het
Sgsm3 T A 15: 80,893,021 (GRCm39) V366E possibly damaging Het
Shank3 T G 15: 89,433,515 (GRCm39) L1420R probably benign Het
Sirpb1b A T 3: 15,608,100 (GRCm39) L215* probably null Het
Slc16a13 C T 11: 70,109,797 (GRCm39) V235I probably benign Het
Slc16a14 T C 1: 84,907,187 (GRCm39) D29G probably benign Het
Speer1a T C 5: 11,394,879 (GRCm39) V122A probably benign Het
Spns2 T A 11: 72,347,704 (GRCm39) T329S possibly damaging Het
Sufu G A 19: 46,439,108 (GRCm39) probably null Het
Tll2 A G 19: 41,108,608 (GRCm39) probably null Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Trim42 A C 9: 97,241,182 (GRCm39) N683K probably damaging Het
Trmt5 A G 12: 73,328,394 (GRCm39) S270P probably damaging Het
Vmn1r59 C A 7: 5,456,986 (GRCm39) R258L possibly damaging Het
Vmn2r32 A G 7: 7,482,851 (GRCm39) L41S probably benign Het
Vmn2r93 A T 17: 18,525,329 (GRCm39) E329V probably damaging Het
Ywhae G T 11: 75,655,487 (GRCm39) E253* probably null Het
Other mutations in 4930486L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:4930486L24Rik APN 13 61,002,673 (GRCm39) missense probably benign 0.00
IGL01325:4930486L24Rik APN 13 61,001,347 (GRCm39) missense probably damaging 1.00
IGL02290:4930486L24Rik APN 13 61,001,344 (GRCm39) missense probably damaging 1.00
IGL02861:4930486L24Rik APN 13 61,001,146 (GRCm39) splice site probably benign
PIT4514001:4930486L24Rik UTSW 13 61,001,328 (GRCm39) critical splice donor site probably null
R0110:4930486L24Rik UTSW 13 61,001,320 (GRCm39) splice site probably benign
R1396:4930486L24Rik UTSW 13 61,001,057 (GRCm39) missense probably benign 0.00
R1471:4930486L24Rik UTSW 13 61,001,336 (GRCm39) missense probably damaging 1.00
R1688:4930486L24Rik UTSW 13 61,002,695 (GRCm39) missense probably benign 0.00
R1697:4930486L24Rik UTSW 13 60,992,928 (GRCm39) missense probably damaging 1.00
R3838:4930486L24Rik UTSW 13 60,993,041 (GRCm39) missense probably damaging 1.00
R4714:4930486L24Rik UTSW 13 60,992,132 (GRCm39) missense probably damaging 1.00
R4976:4930486L24Rik UTSW 13 61,001,387 (GRCm39) nonsense probably null
R5072:4930486L24Rik UTSW 13 61,001,414 (GRCm39) missense probably benign 0.00
R5107:4930486L24Rik UTSW 13 61,001,472 (GRCm39) missense possibly damaging 0.62
R5699:4930486L24Rik UTSW 13 61,001,410 (GRCm39) missense possibly damaging 0.92
R6092:4930486L24Rik UTSW 13 61,001,461 (GRCm39) missense probably benign 0.01
R6787:4930486L24Rik UTSW 13 61,000,922 (GRCm39) missense probably benign
R6800:4930486L24Rik UTSW 13 60,992,948 (GRCm39) missense probably damaging 1.00
R7349:4930486L24Rik UTSW 13 60,990,717 (GRCm39) missense possibly damaging 0.52
R7580:4930486L24Rik UTSW 13 60,993,040 (GRCm39) missense probably damaging 0.97
R7589:4930486L24Rik UTSW 13 60,990,747 (GRCm39) missense probably damaging 1.00
R9304:4930486L24Rik UTSW 13 61,001,352 (GRCm39) missense probably damaging 0.98
R9340:4930486L24Rik UTSW 13 61,001,647 (GRCm39) missense probably benign 0.20
R9485:4930486L24Rik UTSW 13 61,001,059 (GRCm39) missense possibly damaging 0.88
R9489:4930486L24Rik UTSW 13 61,002,683 (GRCm39) missense probably damaging 1.00
R9798:4930486L24Rik UTSW 13 61,000,934 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ACCTCTAGGGGATGTAGAGTG -3'
(R):5'- ATGAAGACTCTTGTTCCATCTTACC -3'

Sequencing Primer
(F):5'- GGATGTAGAGTGCTCTCTCTCTC -3'
(R):5'- ACCTTGTGTATGTAATCTCAGTTAAC -3'
Posted On 2019-09-13