Incidental Mutation 'R4718:4930519G04Rik'
ID 397214
Institutional Source Beutler Lab
Gene Symbol 4930519G04Rik
Ensembl Gene ENSMUSG00000029564
Gene Name RIKEN cDNA 4930519G04 gene
Synonyms
MMRRC Submission 041985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4718 (G1)
Quality Score 170
Status Not validated
Chromosome 5
Chromosomal Location 114991725-115021941 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 115001615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000031547] [ENSMUST00000134389] [ENSMUST00000201635]
AlphaFold Q9CPT7
Predicted Effect probably null
Transcript: ENSMUST00000031547
SMART Domains Protein: ENSMUSP00000031547
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 88 111 N/A INTRINSIC
low complexity region 173 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112153
SMART Domains Protein: ENSMUSP00000107780
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 88 111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119930
Predicted Effect probably benign
Transcript: ENSMUST00000134389
SMART Domains Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 62 85 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142582
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000142582
SMART Domains Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564

DomainStartEndE-ValueType
coiled coil region 69 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201635
SMART Domains Protein: ENSMUSP00000144054
Gene: ENSMUSG00000107108

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,172,826 (GRCm39) Y147F probably damaging Het
Alg12 A T 15: 88,690,256 (GRCm39) Y413N probably damaging Het
Arrdc3 A T 13: 81,031,986 (GRCm39) Q73L possibly damaging Het
Atp13a5 T C 16: 29,066,922 (GRCm39) K1017E probably damaging Het
Bmal1 A T 7: 112,902,568 (GRCm39) I399F probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Bsph1 T A 7: 13,206,107 (GRCm39) Y47* probably null Het
Crat A T 2: 30,298,176 (GRCm39) Y174* probably null Het
Csmd3 G T 15: 47,561,546 (GRCm39) Y2254* probably null Het
Cyld T A 8: 89,468,933 (GRCm39) I568N probably damaging Het
Dapl1 T C 2: 59,315,072 (GRCm39) V7A probably benign Het
Dhx29 G A 13: 113,083,469 (GRCm39) R508H unknown Het
Dnah9 A G 11: 65,976,299 (GRCm39) I1250T probably benign Het
Dnajb3 C T 1: 88,133,061 (GRCm39) D114N probably benign Het
Dsg1b A G 18: 20,530,986 (GRCm39) N446D probably damaging Het
Dthd1 T A 5: 62,976,136 (GRCm39) V270E probably damaging Het
F2rl3 A C 8: 73,489,536 (GRCm39) R254S possibly damaging Het
Fgfr2 A G 7: 129,863,518 (GRCm39) S24P probably damaging Het
Fpr2 T C 17: 18,113,598 (GRCm39) V198A probably benign Het
Gbp2b G A 3: 142,304,756 (GRCm39) G64D probably damaging Het
Gbp9 T G 5: 105,231,624 (GRCm39) N321H probably damaging Het
Gk2 T A 5: 97,603,725 (GRCm39) Y371F probably benign Het
Gm10382 T C 5: 125,466,462 (GRCm39) probably benign Het
Gpatch3 A G 4: 133,309,855 (GRCm39) D396G probably benign Het
Heatr5a A C 12: 51,962,946 (GRCm39) L985V possibly damaging Het
Homer1 T A 13: 93,528,272 (GRCm39) V269E probably damaging Het
Hspbap1 T C 16: 35,607,692 (GRCm39) V66A probably benign Het
Ighv7-2 A C 12: 113,876,089 (GRCm39) I5M possibly damaging Het
Ints7 T A 1: 191,315,389 (GRCm39) F108Y possibly damaging Het
Itga7 CT CTGGGGATT 10: 128,776,603 (GRCm39) probably null Het
Junb G A 8: 85,705,061 (GRCm39) probably benign Het
Lcp2 A G 11: 34,020,992 (GRCm39) N116S probably benign Het
Lrguk A G 6: 34,006,431 (GRCm39) T14A probably benign Het
Lrrcc1 T A 3: 14,601,092 (GRCm39) H41Q probably damaging Het
Ltb C A 17: 35,414,313 (GRCm39) probably null Het
Mapk7 A G 11: 61,380,080 (GRCm39) S693P possibly damaging Het
Mbd5 A T 2: 49,146,414 (GRCm39) H208L possibly damaging Het
Megf9 A T 4: 70,367,015 (GRCm39) S322R possibly damaging Het
Mgat4c T C 10: 102,224,467 (GRCm39) V227A probably damaging Het
Mospd3 G A 5: 137,597,915 (GRCm39) T151M probably benign Het
Mpl A G 4: 118,313,921 (GRCm39) S115P probably benign Het
Myo6 C A 9: 80,153,799 (GRCm39) D258E probably benign Het
N4bp2 G A 5: 65,960,806 (GRCm39) M492I probably damaging Het
Ndst3 G A 3: 123,465,915 (GRCm39) A19V probably benign Het
Nkx2-3 C A 19: 43,601,082 (GRCm39) T48K probably benign Het
Nlrp4f T C 13: 65,342,803 (GRCm39) T281A probably benign Het
Nmur1 A G 1: 86,315,463 (GRCm39) V157A probably damaging Het
Obscn A T 11: 58,912,780 (GRCm39) F6992L probably damaging Het
Ocm G T 5: 143,961,375 (GRCm39) P22Q possibly damaging Het
Or5be3 T C 2: 86,864,239 (GRCm39) T109A probably damaging Het
Osbp2 C A 11: 3,661,793 (GRCm39) C753F probably damaging Het
Pabpc2 A G 18: 39,907,556 (GRCm39) T274A probably benign Het
Pamr1 T A 2: 102,472,681 (GRCm39) I660N probably damaging Het
Papola C T 12: 105,786,707 (GRCm39) T466I possibly damaging Het
Pask T C 1: 93,249,918 (GRCm39) E494G possibly damaging Het
Pck1 A T 2: 172,997,014 (GRCm39) I219F probably damaging Het
Pgm3 T C 9: 86,452,448 (GRCm39) E4G probably benign Het
Pgs1 A G 11: 117,896,709 (GRCm39) H462R probably damaging Het
Phlpp2 T A 8: 110,667,452 (GRCm39) M1327K probably benign Het
Pkhd1 C A 1: 20,151,452 (GRCm39) G3815W probably damaging Het
Plin4 T A 17: 56,413,981 (GRCm39) I215F possibly damaging Het
Plod1 T G 4: 148,000,701 (GRCm39) probably benign Het
Ppfia2 T C 10: 106,694,146 (GRCm39) S707P probably damaging Het
Psmd12 A G 11: 107,377,259 (GRCm39) Q86R probably benign Het
Rasgrf2 C A 13: 92,138,716 (GRCm39) probably null Het
Rictor T C 15: 6,812,641 (GRCm39) S926P possibly damaging Het
Rras2 A T 7: 113,649,584 (GRCm39) I160N probably benign Het
Slc27a6 A T 18: 58,738,138 (GRCm39) Y398F probably benign Het
Speer4f1 A G 5: 17,685,422 (GRCm39) E239G unknown Het
Sppl2c T C 11: 104,079,141 (GRCm39) I647T probably benign Het
Sptan1 A G 2: 29,921,074 (GRCm39) Y2467C probably damaging Het
Sptbn1 G T 11: 30,104,297 (GRCm39) H136N probably damaging Het
Stau2 T C 1: 16,416,269 (GRCm39) probably null Het
Tasor2 A T 13: 3,624,495 (GRCm39) D1818E probably benign Het
Tet1 T A 10: 62,649,591 (GRCm39) I40F probably damaging Het
Tnfaip2 A G 12: 111,412,463 (GRCm39) E288G possibly damaging Het
Trav7-5 T A 14: 53,768,610 (GRCm39) H59Q probably benign Het
Usp53 T C 3: 122,727,631 (GRCm39) I984V probably benign Het
Wdfy4 A G 14: 32,867,273 (GRCm39) I403T probably benign Het
Yars2 T A 16: 16,127,204 (GRCm39) M423K probably benign Het
Zfp292 A T 4: 34,819,521 (GRCm39) V272D possibly damaging Het
Zmynd11 A T 13: 9,739,603 (GRCm39) V478D possibly damaging Het
Other mutations in 4930519G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:4930519G04Rik APN 5 115,017,645 (GRCm39) missense possibly damaging 0.90
IGL03287:4930519G04Rik APN 5 115,008,237 (GRCm39) missense probably damaging 0.99
R0512:4930519G04Rik UTSW 5 115,001,569 (GRCm39) missense probably benign 0.00
R1537:4930519G04Rik UTSW 5 115,008,278 (GRCm39) missense probably benign 0.00
R1563:4930519G04Rik UTSW 5 115,001,569 (GRCm39) missense probably benign 0.00
R2069:4930519G04Rik UTSW 5 115,012,341 (GRCm39) missense probably benign 0.05
R4744:4930519G04Rik UTSW 5 115,017,617 (GRCm39) missense possibly damaging 0.83
R5528:4930519G04Rik UTSW 5 115,012,415 (GRCm39) splice site probably null
R5684:4930519G04Rik UTSW 5 115,017,621 (GRCm39) missense possibly damaging 0.90
R7489:4930519G04Rik UTSW 5 115,017,686 (GRCm39) missense unknown
R7548:4930519G04Rik UTSW 5 115,016,059 (GRCm39) missense possibly damaging 0.46
R7665:4930519G04Rik UTSW 5 115,012,384 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGCACACCGAGGTAACCAAG -3'
(R):5'- TGTAAGTATACAGGAGACCATGTGG -3'

Sequencing Primer
(F):5'- CGAGGTAACCAAGACTCCTAGATAAG -3'
(R):5'- CTCAGTGGTTAAGAGCATTGAC -3'
Posted On 2016-06-28