Incidental Mutation 'R5045:4930519P11Rik'
ID 394303
Institutional Source Beutler Lab
Gene Symbol 4930519P11Rik
Ensembl Gene ENSMUSG00000097602
Gene Name RIKEN cDNA 4930519P11 gene
Synonyms
MMRRC Submission 042635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5045 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154453730-154455357 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 154454982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081926] [ENSMUST00000109702] [ENSMUST00000126421] [ENSMUST00000181369]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081926
SMART Domains Protein: ENSMUSP00000080596
Gene: ENSMUSG00000059842

DomainStartEndE-ValueType
ZnF_C2H2 53 73 4.16e1 SMART
low complexity region 96 110 N/A INTRINSIC
low complexity region 154 161 N/A INTRINSIC
low complexity region 177 200 N/A INTRINSIC
ZnF_C2H2 320 342 3.69e-4 SMART
ZnF_C2H2 348 370 1.04e-3 SMART
ZnF_C2H2 442 464 1.45e-2 SMART
ZnF_C2H2 470 494 2.17e-1 SMART
ZnF_C2H2 500 522 2.91e-2 SMART
ZnF_C2H2 537 561 1.23e0 SMART
ZnF_C2H2 563 585 3.58e-2 SMART
ZnF_C2H2 591 613 1.62e0 SMART
ZnF_C2H2 619 641 2.27e-4 SMART
ZnF_C2H2 647 674 7.29e0 SMART
ZnF_C2H2 680 702 5.14e-3 SMART
low complexity region 740 759 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109702
SMART Domains Protein: ENSMUSP00000105324
Gene: ENSMUSG00000059842

DomainStartEndE-ValueType
ZnF_C2H2 53 73 4.16e1 SMART
low complexity region 96 110 N/A INTRINSIC
low complexity region 154 161 N/A INTRINSIC
low complexity region 177 200 N/A INTRINSIC
ZnF_C2H2 313 335 3.69e-4 SMART
ZnF_C2H2 341 363 1.04e-3 SMART
ZnF_C2H2 435 457 1.45e-2 SMART
ZnF_C2H2 463 487 2.17e-1 SMART
ZnF_C2H2 493 515 2.91e-2 SMART
ZnF_C2H2 530 554 1.23e0 SMART
ZnF_C2H2 556 578 3.58e-2 SMART
ZnF_C2H2 584 606 1.62e0 SMART
ZnF_C2H2 612 634 2.27e-4 SMART
ZnF_C2H2 640 667 7.29e0 SMART
ZnF_C2H2 673 695 5.14e-3 SMART
low complexity region 733 752 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126421
Predicted Effect unknown
Transcript: ENSMUST00000181369
AA Change: L126M
SMART Domains Protein: ENSMUSP00000137692
Gene: ENSMUSG00000097602
AA Change: L126M

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
low complexity region 40 67 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,530,327 (GRCm39) probably benign Het
2210408I21Rik A G 13: 77,415,927 (GRCm39) probably null Het
Adgrb3 T A 1: 25,113,860 (GRCm39) H1189L probably damaging Het
Arhgap24 A G 5: 103,039,743 (GRCm39) I227V possibly damaging Het
Arhgap29 C A 3: 121,796,244 (GRCm39) N445K probably benign Het
Atp13a3 T C 16: 30,158,694 (GRCm39) H811R probably benign Het
Cd2ap T C 17: 43,118,851 (GRCm39) N529S probably benign Het
Cdh20 T A 1: 110,026,080 (GRCm39) S439T probably benign Het
Ces3a G T 8: 105,777,248 (GRCm39) probably null Het
Cftr T A 6: 18,230,080 (GRCm39) N408K probably benign Het
Chil5 T C 3: 105,931,456 (GRCm39) N136S possibly damaging Het
Col20a1 A G 2: 180,648,638 (GRCm39) D933G probably damaging Het
Crh A T 3: 19,748,153 (GRCm39) L163* probably null Het
Ctps1 A C 4: 120,410,075 (GRCm39) probably null Het
Cyb5d2 A G 11: 72,686,401 (GRCm39) V63A probably damaging Het
Cyp2d11 T A 15: 82,275,272 (GRCm39) probably null Het
Dclk3 A T 9: 111,296,856 (GRCm39) E133D probably damaging Het
Dhrs9 A G 2: 69,223,339 (GRCm39) D29G probably benign Het
Disp2 G A 2: 118,622,543 (GRCm39) E1092K probably benign Het
Enpp3 A G 10: 24,652,665 (GRCm39) I764T probably damaging Het
Epm2aip1 C A 9: 111,102,427 (GRCm39) R467S possibly damaging Het
Fam20a T C 11: 109,568,711 (GRCm39) I272V probably benign Het
Fgb T C 3: 82,950,680 (GRCm39) Y358C probably damaging Het
Gm11596 A T 11: 99,683,695 (GRCm39) S142T unknown Het
Golga4 A G 9: 118,394,724 (GRCm39) T9A probably benign Het
Hmcn2 C T 2: 31,299,093 (GRCm39) P2813L probably damaging Het
Ighv1-9 C T 12: 114,547,440 (GRCm39) G34R probably damaging Het
Kalrn A C 16: 34,134,722 (GRCm39) Y353* probably null Het
Klrk1 T C 6: 129,594,466 (GRCm39) Y42C probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mbtd1 T C 11: 93,822,641 (GRCm39) Y484H probably benign Het
Mki67 T C 7: 135,309,633 (GRCm39) R273G possibly damaging Het
Myh11 A T 16: 14,057,391 (GRCm39) L308* probably null Het
Nacc2 G A 2: 25,980,150 (GRCm39) probably null Het
Nadsyn1 A G 7: 143,360,706 (GRCm39) L354P probably damaging Het
Ntrk3 T A 7: 78,110,172 (GRCm39) Q354L probably benign Het
Or10ag58 A T 2: 87,265,490 (GRCm39) I220L probably damaging Het
Or52r1c G A 7: 102,735,664 (GRCm39) G308E probably benign Het
Phactr3 T C 2: 177,973,412 (GRCm39) I470T probably damaging Het
Pkd1l3 C T 8: 110,349,787 (GRCm39) P211S unknown Het
Potefam1 T A 2: 111,023,804 (GRCm39) Q110L unknown Het
Prickle2 T C 6: 92,353,375 (GRCm39) D753G probably damaging Het
Prr12 A G 7: 44,699,318 (GRCm39) probably benign Het
Psd3 T C 8: 68,166,477 (GRCm39) E917G probably damaging Het
Rgsl1 T A 1: 153,697,268 (GRCm39) K551* probably null Het
Stag3 T C 5: 138,302,740 (GRCm39) L1033P probably damaging Het
Tcaf3 T A 6: 42,570,618 (GRCm39) Q378L possibly damaging Het
Tdpoz8 G T 3: 92,981,524 (GRCm39) D181Y probably damaging Het
Tespa1 A T 10: 130,197,904 (GRCm39) K309* probably null Het
Trim69 A G 2: 122,004,727 (GRCm39) T275A probably benign Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Ugt2a2 A T 5: 87,622,751 (GRCm39) F72L probably damaging Het
Vmn2r59 A T 7: 41,695,496 (GRCm39) D305E possibly damaging Het
Vmn2r71 A G 7: 85,273,597 (GRCm39) I804V probably benign Het
Zfy2 T C Y: 2,107,159 (GRCm39) K492E possibly damaging Het
Zkscan1 A G 5: 138,099,182 (GRCm39) H375R probably damaging Het
Other mutations in 4930519P11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4895:4930519P11Rik UTSW 2 154,454,990 (GRCm39) unclassified probably benign
R5045:4930519P11Rik UTSW 2 154,454,950 (GRCm39) nonsense probably null
R7171:4930519P11Rik UTSW 2 154,454,897 (GRCm39) missense unknown
R7773:4930519P11Rik UTSW 2 154,455,107 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCACAGTCGAGAGGTGTGTG -3'
(R):5'- CAAGCATTGTGAGAACCGCG -3'

Sequencing Primer
(F):5'- TGTGAATGGGAATGGAGGTCC -3'
(R):5'- TGCCCCGGAAACAGCTTG -3'
Posted On 2016-06-15